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Sunday Spinelessness – Peripatus!!! David Winter Aug 15

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I really like Te Ara, the online New Zealand encyclopedia. I can’t begin to tell you how many of my posts here have been made better by the information and the illustrations at that website. Two events last week have made me like Te Ara even more. First, it now includes an article written by my Dad; and second the folks behind Te Ara’s twitter account replaced their profile picture with a peripatus (Onychophoran). Peripatus might just be the most wonderful animals that there are – nocturnal predators that crawl through leaf litter killing their prey after immobilising them with glue shot from their heads while still managing to look cute. They’ve also been the subject of some woolly evolutionary thinking, and New Zealand’s peripatus are the centre of one of country’s most interesting evolutionary debates. So, in honour of Te Ara’s fine taste in profile pictures, today’s post is all about our peripatus

Onychophora
Peripatoides sp. image is CC 2.0 from Flickr user Bruno C. Vellutni

I should probably start with the name. So called “walking worms” or “velvet worms” like the Perpatoides above all belong to the phylum Onychophora (the name refers to the claws on the end of each of those legs). In New Zealand we invariably call our species”peripatus” despite the fact that none of them have ever been considered to be part of the tropical genus Peripatus. I can’t quite work out how the name peripatus took hold in the public understanding of these creatures, but it hardly matters as long as we all know what we’re talking about. In fact, using peripatus as a common name in English makes for a nice congruence, since that name comes from Latin meaning “to walk about” and the Maori name for these creatures, ngaokeoke derives from the verb “to crawl”. And it’s fun to say (Stephen Jay Gould claimed he’d never written about onychophorans without mentioning how much he liked to hear the word peripatus).

As I mentioned above, peripatus spend their lives in leaf litter and rotting logs. A couple of years ago I spent a fair amount of my summer walking through forests pulling apart rotting logs looking for certain species of springtails. The springtails we were looking for were few and far between, so you did a lot more searching than finding, but looking through rotting logs always throws up interesting creatures. I couldn’t count the number of spiders, bizarre harvestmen, smart little native cockroaches, beetles, centipedes, millipedes and snails I found. But I remember each of the three times I encountered a peripatus. There is something very special about running into one of these creatures in their natural habitat, as they crawl away on legs almost identical to the ones that supported their (marine) ancestors 500 million years ago. But peripatus are more than “living fossils” (actually, nothing’s a living fossil, every creature on earth has been evolving for 3.8 billion years) almost everything about these animals is amazing.Their fleshy little legs work without a skeleton (inside our out) because their body is inflated with an incompressible liquid that muscles can work against, they shoot glue across (relatively) large distances to immobilse their prey, they have pretty complex brains and (among Australian species at least) complex social behaviours and for all their lack of morphological diversity they have a great variety of reproductive strategies. Most species are ovoviviparous, which means the young develop in eggs which are retained in the female where they hatch a little while before they are born. A few New Zealand an Australian species lay eggs which are supplied with yolk and left alone and others have gone in the other direction and taken eggs out the equation by giving birth to live young nourished by a placenta. All that and they remain, in the words of PsiWavefront “[really quite] adorable”

A plush peripatus from Weird Bug Lady’s amazing Etsy shop

Peripatus have also fueled some slightly wonky evolutionary thinking, including perhaps the single stupidest idea to be published in a scientific journal – that insects like butterflies and wasps and beetles which have caterpillar-like larvae are the result of ancient hybridisation between caterpillar-like onychophorans and some flying insect. I don’t think that idea is likely to become widespread but it’s almost impossible to read about peripatus without coming across the idea that they form a “missing link” between the arthropods (animals with jointed limbs and exoskeletons like spiders, insects and crustaceans) and the annelids (earthworms, leeches and their relatives). There is probably no term that annoys me more than “missing link” – its continued use betrays the way we’ve failed to include what we know about evolution in the way we think about biology. By now we should know that links belong in chains and species belong in trees. More specifically, the term missing link comes from a theological idea called the Great Chain of Being or Scala Naturae which was meant to relate all of Creation in a giant hierarchy from God, who set it all in place, on down to mud with angels, kings, men, women (occasionally in that order) animals and plants filling the gaps. When natural historians brought up in the age of the Great Chain turned their eyes on the biological world they looked for creatures that could fill up the spaces, smoothly linking the “high” and the “low” animals. In that light you might see the stumpy little legs of onychophorans as filling the space between annelids (with segments but never true legs) and arthropods (with segments and specialised limbs associated with particular segments). Something like this:

But ever since Darwin we’ve known that animals weren’t created to fill a spot in a hierarchy. Rather, they’ve arisen in a branching pattern, with new lineages forming from the repeated splitting of older ones. Modern species aren’t links in an evolutionary chain, they are tips in an evolutionary tree. In this way evolution is actually a process that creates gaps – once a lineage splits each of the daughter lineages are free to evolve away from each. If anything the mixture of “worm-like” and “arthropod-like” character in peripatus might be evidence for shared ancestory between these groups (ie, all these groups descend from a segmented ancestor not shared by the un-segmented animals like molluscs) which would help us to understand the order in which those character evolved:

In the tree above the Onychophorans aren’t a link between arthropods and annelids, they are their own group with some degree of shared ancestory with each other group. As it happens, when you look at more characters (especially the nervous system, embryonic development and DNA) the apparent relationship between annelids and peripatus breaks down. The “worm-like” properties of the onychophorans are likely down to each group independently arriving at the same solution to problems arising from life as a tubular invertebrate or the maintenance of traits found in the ancestor of all animals and since modified in most lineages but not these ones. Here’s how we’d relate the four groups we’ve been looking at above given what we know today (”spiral cleavage” is a pattern of embryonic development shared by most lophotrochozoan animals):

On top of being a biological marvels, New Zealand’s peripatus might be able to tell us about our county’s geology. In fact, our peripatus might just be the only animals keeping New Zealand above water during the Oligicene. New Zealand got its geological start about 85 million years ago when the land that makes up our mini-continent split away from the super-continent Gondwana and for a long time it was considered likely that most of flora and fauna were on board when the split happened. That geological event and it’s biological ramifications have become something of a creation myth for New Zealanders, it suits our image as a a rugged and unique country forging its own way through the world. It just happens to be wrong. Or at least, it’s become increasingly clear that most of our flora and fauna are relatively recent arrivals (having been blown or rafted to our litltle islands) and some geologists have suggested the whole of New Zealand may have been underwater in the “Oligicence drowning” about 23 million years ago, an event that would have extinguished any Gondwanan refugees. Our peripatus form part of the debate because their relatives are found in Australia, South America and Africa – all formerly part of Gondwana – and as such provide us with the means to test the idea that our peripatus have been in New Zealand since New Zealand existed. Earlier this year Julia Allwood and colleagues presented a molecular clock study focusing on New Zealand and Australian onychophoran species. The molecular clock doesn’t tick as smoothly as a wristwatch, so good dating studies like Allwood et al’s almost always include large error bars. Nevertheless, they found that the oldest split between Australian and New Zealand genera was between 24.5 and 136.7 million years, with a point estimate just under 80 million years. It’s not quite and open and shut case, but it’s probably enough to make our peripatus the best candidate for a Gondwanan relict in New Zealand.

The trees and the chain use the following images:
Snail from Hadi Fooladi, Leech from PhatController, Onychophoran from Ant Boy and springtail from Cornell Mushroom Blog. All are licensed under Creative Commons 2.0 license (as is everything here that isn’t credited to someone else)

Allwood and colleagues’ paper is

Allwood, J., Gleeson, D., Mayer, G., Daniels, S., Beggs, J., & Buckley, T. (2010). Support for vicariant origins of the New Zealand Onychophora Journal of Biogeography, 37 (4), 669-681 DOI: 10.1111/j.1365-2699.2009.02233.x

If some of us have Neanderthal genes, are Neanderthals us? David Winter Jun 08

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I got a little bit starry eyed writing about the Neanderthal genome the other day. I chose to retrace the arc of scientific progress that links the initial description of Neanderthal man as something different than modern humans to the point reached last month, where we are able to tag some of those differences to a single gene. Most of the news stories about the Neanderthal genome focused not on the genes that made us different from them, but a small percentage of the genome that reinforced the continuity been them and us. Genetic evidence that Neanderthals interbred with the ancestors of some modern humans. The revelation of these ancient assignations has caused some quite sensible people to say some quite silly things about what species are and what Neanderthals were. So, perhaps I can compliment my slightly hazy earlier piece with a more hardheaded take on why Neanderthals remain a species unto themselves.

Let’s start with the evidence that Neanderthals interbred with the ancestors of modern humans. Modern humans (Homo sapiens) arose in Africa about two hundred thousand years ago, all modern human populations outside of Africa descend from a relatively small number of migrants who left that continent between eighty and fifty thousand years ago. When those migrants first left Africa and entered the Middle East they would have met other humans. The ancestors of the Neanderthal had moved out of Africa and established themselves in Europe and Central Asia thousands of years before. Until now we haven’t known which of the four ‘F’s (fighting, fleeing, feeding or reproduction) followed that first contact, the Neanderthal genome has given us a clue.

When you compare individual DNA bases that are variable within modern human genomes to the corresponding sequences in the Neanderthal genome you find that non-African sequences match the Neanderthal sequence slightly (but significantly) more often than African sequences do. It’s possible that this pattern is an artifact of our poor sampling of African genomic diversity (that observant nerd Christie does a good job of explaining how here) but for the sake of argument let’s take it for granted that his pattern is the result of ancient interbreeding. The authors of the paper describing the Neanderthal genome estimate people with no recent African ancestry inherited between one and four percent of their genome from Neanderthals. That number is the same for Papuan and East Asian populations as it is for Europeans despite Neanderthals having lived alongside Europeans for thousands of years, suggesting any interbreeding that contributed to modern human genomes was limited to that first period of contact.

This is where the problems start. Having heard the news that Neanderthals and some of our ancestors might have once swapped genes some people remember that nice easy test of species-status from high-school biology. Something like “if two animals can interbreed then they’re part the same species.” So, are we Neanderthals; or are Neanderthals us? No. In fact, the Neanderthal genome serves to highlight some the mistakes we commonly make when start trying to define species.

Biologists have spent a lot of time arguing about just what a species is and how can delimit species from the creatures that we study, too often we’ve forgotten that those are two different arguments. DeLene from Wild Muse has a thoughtful overview of some of the factors that contribute to the “species problem” in her review of Jody Hey’s book on the same topic. You should read her piece because the species problem really is a fascinating philosophical question, but I think most of the fights that erupt around competing definitions of species come from a failure to understand that defining species and organising critters into species are two different tasks. We’ve been studying speciation, the process by which new species arise, for a while now and we’ve developed a pretty good idea of how it works. Two populations stop interbreeding with each other, during that period of “reproductive isolation” genetic changes in one population can’t effect the other so natural selection and random changes (called genetic drift) change each population independently. Species are populations which are on independent evolutionary trajectories.

Reproductive isolation drives the independence that is at the heart of what species are, but it’s not the sine qua non of a species. James Mallet from University College London has made a special study of hybridisation, and he reckons 10% of animal species and a whopping 25% of plants interbreed with other species from time to time. As molecular tools have been applied to non-model organisms it’s become increasingly clear that the “species barrier” is more porous than we’d thought, and species can maintain their independence even in the face of the occasional injection of genes from other species.(If you’re interested in the wider question, I’ve written a bit on the species problem here. The short version is we should see competing “species concepts” as operational tools that might be used to help delimit species, but not as definitions).

Now, think about the results from Neanderthal genome. Most sequences in that genome are separated from their human counterpart by a split that happened over five hundred thousand years ago. There is pretty good evidence that Neanderthals and the ancestors of non-Africans interbred when they met each other in the Middle East about four hundred and fifty thousand years after that initial split. That gene flow had the potential to homogenise the two populations into one, but it didn’t. Each lineage maintained its identity. For the twenty or so thousand years that Neanderthals continued to exist they retained identifiable morphological traits. There are fossils in Europe that some argue show a mixture of characters, but any interbreeding in that continent left no mark on modern European genomes, which have no more Neanderthal DNA than Papuan and Chinese genomes do. At the same time, the authors didn’t detect any flow of modern human genes into Neanderthal genomes (so it’s not a case of of modern humans swamping Neanderthal populations and erasing any trace of genetic admixture in the process). The available evidence seems to point o Neanderthals and modern humans as separately evolving populations, and a little bit of gene flow between them wasn’t enough to upset that pattern.

I should stress, by saying H. neanderthalensis and H. sapiens are different species we aren’t saying very much about how different Neanderthals were from us. Species are not defined by a degree of difference, or an essence that was missing in Neanderthals but is present in us, they’re just another human population that was moving in a different direction (and eventually extinction). If some of us do have Neanderthal genes, then it only goes to show how fuzzy the line between our species and the rest of the biological world is.

Green RE, and many, many others (2010). A draft sequence of the Neandertal genome. Science (New York, N.Y.), 328 (5979), 710-22 PMID: 20448178

James Mallet’s bit on the frequency of hybridisation is taken form here:

Mallet, J. (2005). Hybridization as an invasion of the genome Trends in Ecology & Evolution, 20 (5), 229-237 DOI: 10.1016/j.tree.2005.02.010

The ideas about species and species delimitation presented above are pretty similar to Kevin de Quieroz’s take:

De Queiroz, K. (2007). Species Concepts and Species Delimitation Systematic Biology, 56 (6), 879-886 DOI: 10.1080/10635150701701083

Living up to our name David Winter May 28

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Homo sapiens means “wise man”. Sometimes it’s hard to think that Linnaeus was right in honouring our species with that name. We’re the reason the earth is going through its sixth great extinction; people are still routinely killed for belonging the wrong race, religion or sexuality and the prospect of taking action on climate change makes a significant proportion of the population behave like children. So it’s nice to be reminded every now and again about the sorts things our species can do when we put our minds to it. I’ve been trying to find time to write a proper post about the Neanderthal genome, but here’s something to think about on a rainy Friday afternoon.


Neanderthal 1, the first human fossil to be described

In 1857 an anatomist and a school teacher, Hermann Schaffhausen and Johann Fuhlrott, described a set of bones that had been discovered in a limestone quarry in what was then called the neanderthal region of Germany. Amazingly, the neanderthal region was named after Joachim Neander whose own name translates as “new man”. A new man was exactly what Schaffhausen and Fuhlrott saw in the bones that they described. They were at once human and something “other” Chief among the characters that set the neanderthal samples apart from modern humans was the thick brow ridge that we now think of as characteristic of primitive humans. Thanks to these differences the school teacher and the anatomist concluded that the neanderthal samples were human but something quite different than modern Europeans.

“Neanderthal Man” was the first pre-human fossil to be described. At the time science had no convincing mechanism by which species might change over time and no idea of how organisms passed on traits to their offspring. Within in a couple of years Darwin had published The Origin and Mendel his Experiments on Plant Hybridization (which was promptly ignored, and only cited three times in 30 years). In time scientists discovered more human fossils; Neanderthal man showed up all over Europe and took the name H. neanderthalensis, Euguen Dobois uncovered H. erectus in Asia and host of anthropologists have since added characters like the Turkana boy, H. habilis, Ardi and a whole cast of Australopithecines to our family tree.

The science of heredity moved on too. In the 20th century geneticists, especially Hugo deVries, rediscovered Mendel’s work and set about building a particulate theory of inheritance. TH Morgan showed that genes resided on chromosomes, Fisher, Wright Haldane and others synthesized Mendelian genetics with Darwin’s ideas on evolution, MacLeod and McCarty showed that DNA (a chemical initially identified by Miescher) contained genetic information (though no one believed them until Hershey and Chase demonstrated it again) and, of course, Watson and Crick showed us what DNA looked like thanks to Rosalind Franklin’s x-rays. It took a little over 20 years to get from Watson and Crick’s double helix to first complete virus genome and another 30 to scale the 5 orders of magnitude in size between that one and the human genome.

Last month, scientists published a first draft of the Neanderthal genome. 60% of the genetic make up of species of human that has been extinct for thirty thousand years. Thanks to the work of all those scientists listed above, and countless others who go unremembered, we now have a pretty good idea about the genetic basis of the thick brow ridge that convinved Schaffhausen and Fuhlrott than neanderthal man something different than other humans. The Runx2 gene is in a region of the genome that has been selected for in the H. sapiens lineage. We know from the work of yet more scientists that Runx2 is one of the most important genes regulating bone growth in humans and is associated with malformations of the skull. It’s no great stretch to imagine that our species lost the brow ridge that that we associate with primitive humans thanks to changes in the expression pattern of Runx2.

It some ways that’s a trivial piece of information, we’ve known for a long time that most morphological change is likely due to changes in the expression pattern of development genes. But isn’t it wonderful to think that in the span of two human lifetimes we’ve moved from knowing nothing of our species’ history to the point that we are developing hypothesis on the molecular basis of the changes that made us different from the host of human species we’ve since discovered.

Does a forty thousand year old finger point to another human species? David Winter Mar 26

ResearchBlogging.org

DNA extracted from a 40 000 year old finger bone found in a cave in Siberia might be evidence for a previously unrecognized human species. Or it might not be. The bone, which comes from what New Zealanders call a “little finger”, Americans call a”pinky” and paleo-anthropologists call the “distal manual phalanx of the fifth digit”, was found in the Denisova cave, in a region of Siberia from which remains of members of both our own species (Homo sapiens) and Neanderthals (H. neanderthalensis) have previously been found. The mitochondrial DNA (mtDNA) sequences generated from the finger bone are distinct from both modern human sequences and from previously published neanderthal sequences, but inferring species boundaries is a tricky business and the mtDNA sequences are not, in and of themselves, proof that the finger belonged to a member of a third human species.

Here’s the big figure from the paper, which was presented by Johannes Krause and colleagues in Nature yesterday. It’s a phylogenetic tree which relates the little finger’s mtDNA to H. sapiens and H. neanderthalensis sequences (click to see a high-resolution version):

The Denisnova sequence is red, Neanderthal sequences are in blue and modern humans are grey. So, the Denisova mtDNA forms a distinct lineage that isn’t represented in modern humans or in previously published Neanderthal sequences. By using the tree as the basis for molecular dating the researchers were able to estimate that Denisova lineage separated from other human mitochondrial lineages between 0.78 and 1.3 million years ago. The temporal context the molecular dating adds to the phylogenetic tree helps to us understand where this new mitochondrial lineage might fit into humanity’s family tree.

I’ve said before that most of our species’ history was played out in Africa, and, in fact, the same is true when we step up a taxonomic level and look at our genus. All the human species that have been found outside of Africa descend from migrants that moved out of that continent at some stage. Here’s a schematic representing some of the species in the wider human family tree and the timing of the migrations that moved them out of Africa.

How does the new evidence presented by Krausse et al. fit into that scheme? Perhaps the simplest interpretation is the the Denisova lineage represents a new species. The estimated age of the Denisova lineage makes it too young to have been carried out of Africa by the first wave of H. erectus migrants to leave Africa and apparently too old to have been inherited from the migrants that went on to form the Neanderthal lineage. If the Denisova sequence is something new then we’ll have to update our family tree, adding a new branch and a fourth migration out of Africa.

John Hawks thinks we should hold off on updating the family tree too qucikly. The Desinova specimen might be a Neanderthal. At first glance the tree presented by Krausse et al. seems to dispel that possibility since previously identified Neanderthal sequences are more closely related to modern human sequences than the new linaeage, but that tree is based entirely on mtDNA. The mitochondrial genome is inherited as if it was a single gene. We can often use trees estimated from a single gene (”gene trees”) as a proxy for species-level relationships (”species trees”) but, in fact, every gene in a population has its own history and there there are scenarios that can push a given gene tree away from underlying species tree. Perhaps the easiest way to visualise how you’d end up with mitochondrial lineages that diverged millions of years ago within a single species is to think about genetic lineages moving through a population while speciation happens. New species form when populations stop sharing genes with each other, in the diagram below the big black triangle represents a barrier to gene flow. What happens if multiple different gene lineages are present in the ancestral population at the time that this gene flow stops? Usually, given enough time, each species will “sort” into specific gene lineages that descend from just one of the lineages in the ancestral population, but it’s also possible for one (or both) species to maintain multiple lineages for some time. Such “incomplete lineage sorting” makes gene trees bad proxies for species trees and it’s just possible that something like this has happened in Neanderthals:

Perhaps by moving to the very Easterm edge of the Neanderthals range we’ve sampled for the first time a lineage that existed in that species for the whole time it was in Europe. Maybe, and Hawks surely knows a lot more about paleobiology than I do, but I don’t really buy it. It’s certainly possible for a species to harbour deeply divergent mitochondrial lineages, but the time it takes for gene-lineages to sort within a species is relative to the effect population size of that species. Neanderthals probably had a relatively small effective population size (and mtDNA definitely does, since only females pass it on and then in only one copy) making the retention of multiple lineages over hundreds of thousands of years seem like a long shot. As Hawkes argues, strong geographic structure in Neanderthal populations might have aided the retention of divergent genetic lineages against those odds, maybe the Denisova mitochondrial lineage was extinct in Western Europe but common in Central Asia? It’s possible, but I wouldn’t bet on it.

Finally, the Denisova sample might be our first look at H. erectus DNA. H. erectus remains have been recovered from China so it seems possible they were in Siberia too. As I’ve said, the molecular dating of the Denisova lineage probably makes it too young to be a descendant of the first wave of migration form Afirca (though, of course, there is some uncertainty associated with that dating), but it might be evidence of genetic exchange between African and the H. erectus diaspora. As we’ve come to understand the origin of our species we’ve realised that the simple “Out of Africa” model is just that, a model, and the true pattern is more complex. H. sapiens really did have its start in Africa and it really did push out into the rest of the world in the last 50 000 years or so, but during that expansion populations have continued to exchange genes. There’s no reason to believe that that H. erectus could not have done the same, perhaps the main thrust of the H. erectus expansion was 1.6-2 million years ago but genes continued to flow in and out of Africa for sometime after that.

So, there are three possibilities for the Denisova sample:

  1. It could be a new species,
  2. It could be an ancient mitochondrial lineage retained in eastern Neanderthal populations but lost elsewhere
  3. It could be the first H. erectus sequence.

We’ll need more genes (Krausse et al. report they are working on sequencing genes from the nuclear genome) or more complete specimens to know for sure but I’ll throw caution to the wind and say I think the first scenario to be the most likely and the second the least probable (remembering of course, that I’m not an anthropologist and these are pretty subjective estimates!). Perhaps I’m displaying some biases because I also think numbers one and three would be the cooler results. If either of those scenarios are true then we can add a third human species (alongside the Neanderthals and the ‘Hobbit’ H. floresiensis) that modern humans might have interacted with – it’s just so fascinating to imagine our ancestors living alongside other human species and how differently the world might have turned out if those other species had survived the few thousand years that separate us.

You should read Carl Zimmer’s post on the paper, he’s compiling expert opinions as they come to him. There’s also some more qualified comments via The Independent who made up for their poor news article on the story by having Chris Stringer from the Natural History Museum write a piece on it.
Krause, J., Fu, Q., Good, J., Viola, B., Shunkov, M., Derevianko, A., & Pääbo, S. (2010). The complete mitochondrial DNA genome of an unknown hominin from southern Siberia Nature DOI: 10.1038/nature08976

Does a forty thousand year old finger point to another human species? David Winter Mar 26

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ResearchBlogging.org

DNA extracted from a 40 000 year old finger bone found in a cave in Siberia might be evidence for a previously unrecognized human species. Or it might not be. The bone, which comes from what New Zealanders call a “little finger”, Americans call a”pinky” and paleo-anthropologists call the “distal manual phalanx of the fifth digit”, was found in the Denisova cave, in a region of Siberia from which remains of members of both our own species (Homo sapiens) and Neanderthals (H. neanderthalensis) have previously been found. The mitochondrial DNA (mtDNA) sequences generated from the finger bone are distinct from both modern human sequences and from previously published neanderthal sequences, but inferring species boundaries is a tricky business and the mtDNA sequences are not, in and of themselves, proof that the finger belonged to a member of a third human species.

Here’s the big figure from the paper, which was presented by Johannes Krause and colleagues in Nature yesterday. It’s a phylogenetic tree which relates the little finger’s mtDNA to H. sapiens and H. neanderthalensis sequences (click to see a high-resolution version):

The Denisnova sequence is red, Neanderthal sequences are in blue and modern humans are grey. So, the Denisova mtDNA forms a distinct lineage that isn’t represented in modern humans or in previously published Neanderthal sequences. By using the tree as the basis for molecular dating the researchers were able to estimate that Denisova lineage separated from other human mitochondrial lineages between 0.78 and 1.3 million years ago. The temporal context the molecular dating adds to the phylogenetic tree helps to us understand where this new mitochondrial lineage might fit into humanity’s family tree.

I’ve said before that most of our species’ history was played out in Africa, and, in fact, the same is true when we step up a taxonomic level and look at our genus. All the human species that have been found outside of Africa descend from migrants that moved out of that continent at some stage. Here’s a schematic representing some of the species in the wider human family tree and the timing of the migrations that moved them out of Africa.

How does the new evidence presented by Krausse et al. fit into that scheme? Perhaps the simplest interpretation is the the Denisova lineage represents a new species. The estimated age of the Denisova lineage makes it too young to have been carried out of Africa by the first wave of H. erectus migrants to leave Africa and apparently too old to have been inherited from the migrants that went on to form the Neanderthal lineage. If the Denisova sequence is something new then we’ll have to update our family tree, adding a new branch and a fourth migration out of Africa.

John Hawks thinks we should hold off on updating the family tree too qucikly. The Desinova specimen might be a Neanderthal. At first glance the tree presented by Krausse et al. seems to dispel that possibility since previously identified Neanderthal sequences are more closely related to modern human sequences than the new linaeage, but that tree is based entirely on mtDNA. The mitochondrial genome is inherited as if it was a single gene. We can often use trees estimated from a single gene (”gene trees”) as a proxy for species-level relationships (”species trees”) but, in fact, every gene in a population has its own history and there there are scenarios that can push a given gene tree away from underlying species tree. Perhaps the easiest way to visualise how you’d end up with mitochondrial lineages that diverged millions of years ago within a single species is to think about genetic lineages moving through a population while speciation happens. New species form when populations stop sharing genes with each other, in the diagram below the big black triangle represents a barrier to gene flow. What happens if multiple different gene lineages are present in the ancestral population at the time that this gene flow stops? Usually, given enough time, each species will “sort” into specific gene lineages that descend from just one of the lineages in the ancestral population, but it’s also possible for one (or both) species to maintain multiple lineages for some time. Such “incomplete lineage sorting” makes gene trees bad proxies for species trees and it’s just possible that something like this has happened in Neanderthals:

Perhaps by moving to the very Easterm edge of the Neanderthals range we’ve sampled for the first time a lineage that existed in that species for the whole time it was in Europe. Maybe, and Hawks surely knows a lot more about paleobiology than I do, but I don’t really buy it. It’s certainly possible for a species to harbour deeply divergent mitochondrial lineages, but the time it takes for gene-lineages to sort within a species is relative to the effect population size of that species. Neanderthals probably had a relatively small effective population size (and mtDNA definitely does, since only females pass it on and then in only one copy) making the retention of multiple lineages over hundreds of thousands of years seem like a long shot. As Hawkes argues, strong geographic structure in Neanderthal populations might have aided the retention of divergent genetic lineages against those odds, maybe the Denisova mitochondrial lineage was extinct in Western Europe but common in Central Asia? It’s possible, but I wouldn’t bet on it.

Finally, the Denisova sample might be our first look at H. erectus DNA. H. erectus remains have been recovered from China so it seems possible they were in Siberia too. As I’ve said, the molecular dating of the Denisova lineage probably makes it too young to be a descendant of the first wave of migration form Afirca (though, of course, there is some uncertainty associated with that dating), but it might be evidence of genetic exchange between African and the H. erectus diaspora. As we’ve come to understand the origin of our species we’ve realised that the simple “Out of Africa” model is just that, a model, and the true pattern is more complex. H. sapiens really did have its start in Africa and it really did push out into the rest of the world in the last 50 000 years or so, but during that expansion populations have continued to exchange genes. There’s no reason to believe that that H. erectus could not have done the same, perhaps the main thrust of the H. erectus expansion was 1.6-2 million years ago but genes continued to flow in and out of Africa for sometime after that.

So, there are three possibilities for the Denisova sample:

  1. It could be a new species,
  2. It could be an ancient mitochondrial lineage retained in eastern Neanderthal populations but lost elsewhere
  3. It could be the first H. erectus sequence.

We’ll need more genes (Krausse et al. report they are working on sequencing genes from the nuclear genome) or more complete specimens to know for sure but I’ll throw caution to the wind and say I think the first scenario to be the most likely and the second the least probable (remembering of course, that I’m not an anthropologist and these are pretty subjective estimates!). Perhaps I’m displaying some biases because I also think numbers one and three would be the cooler results. If either of those scenarios are true then we can add a third human species (alongside the Neanderthals and the ‘Hobbit’ H. floresiensis) that modern humans might have interacted with – it’s just so fascinating to imagine our ancestors living alongside other human species and how differently the world might have turned out if those other species had survived the few thousand years that separate us.

You should read Carl Zimmer’s post on the paper, he’s compiling expert opinions as they come to him. There’s also some more qualified comments via The Independent who made up for their poor news article on the story by having Chris Stringer from the Natural History Museum write a piece on it.
Krause, J., Fu, Q., Good, J., Viola, B., Shunkov, M., Derevianko, A., & Pääbo, S. (2010). The complete mitochondrial DNA genome of an unknown hominin from southern Siberia Nature DOI: 10.1038/nature08976

Lawrence Krauss on a bad day David Winter Mar 17

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Dunedin got to see Lawrence Krauss on a good day and a bad day this week, but that’s not to say one of his presentations was better than the other. Yesterday the award winning physicist and scientific communicator revealed to his audience that his outlook on life changes from day to day. On good days he can revel in the wonder of a universe that could come to know itself due to a series of accidents that started 10-31 seconds after the big bang and allowed the creation of first matter then atoms, stars and planets and finally astronomers. On bad days he despairs at the lack of scientific thinking in journalism and politics and thinks these problems, and the anti-scientific forces that fuel them, will probably prevent us from doing anything meaningful about climate change.

Krauss’ awe inspiring story of an atom’s journey from the birth of the universe to its death will gain nothing from my retelling it. If you weren’t able to see it then you’l be glad to know his talk was a précis of his excellent book ATOM: An Odyssey from the Big Bang to Life on Earth…and Beyond and covers similar ground to this recored lecture. Perhaps I’m a masochist and a pessimist, but I’m going to skip the awe inspiring story to focus on what Lawrence Krauss thinks about on a bad day. His talk on “Science, Non-Science and Nonsense” described the sources of scientific confusion in society and the tactics used by those groups that seek to take advantage of it.

Krauss argued that the goal of science education and science communication should be to make sure everyone develops a functioning bullshit filter. He didn’t express his thesis quite as bluntly as that, but his core idea is that spreading a scientific mindset would allow us to short circuit needless debates (is global warming real?) and let us get on to the important ones (what are we going to do about it?). He used a neat example to illustrate how this sort of scientific common sense could stop nutty ideas before they get started. UFO enthusiasts often cite the ability of the lights they observe to perform right angle turns at speed as evidence of their otherworldliness. In fact, Krauss pointed out, common sense should tell us that these apparently amazing maneuvers are evidence that the lights in question are not being emitted by a massive object moving through the sky. The only way to turn at a right angle is to stop then change direction, for a UFO to do all its slowing down and stopping so quickly a human observer couldn’t perceive it would generate G-forces with a strength about 2000 times greater than earth’s gravity. And quite a mess.

If the evidence used by UFO junkies is so silly then why do continue prosper? Why aren’t people already filtering this sort of nonsense? The standard of scientific reporting in the media certainly has a lot to answer for. Krauss cited the normal concerns, a fractionated media market means viewers can choose a source of news that confirms their biases and the innate need of journalists to present balance is misplaced in science stories when, in almost every case, one side is wrong and we usually know which side that is. He also mentioned something I hadn’t thought about before. According to Krauss, part of the problem with science coverage in mainstream reporting is that journalists don’t feel qualified to make scientific pronouncements. Writers and broadcasters are happy to make bold statements on politics, financial markets and sports but will shy away from even a scientifically uncontroversial statement like “evolution is a fact.”

Scientific understanding might not be helped by meek journalists and the false equality of balance but most journalists aren’t setting out to deliberately mislead the public on science. Unfortunately, there are forces at work that are doing just that. Krauss had a tonne of examples from the culture wars in his native USA to draw on but he also took the time reminded us of our home grown cranks, citing the New Zealand Climate “Science” Coalition and Ray Comfort (The Apologist’s Nightmare ) as evidence we aren’t immune to anti-science in New Zealand. As you’d expect Krauss exposed just how vacuous the claims of intelligent design creationism and the objections of climate change denialists are, but he also attempted to deconstruct the PR strategies each group use. Both campaigns seek to take advantage of the public’s sense of fairness and journalists’ willingness to provide balance to any point of view. The Discovery Institute would have you believe their goal is simply to get their science a fair hearing in the classroom. But they don’t have a science. For normal science, theories only make it into the school curriculum after they’ve been proposed, tested, retested and confirmed. The ID crowd don’t want fair treatment, they want special treatment, to avoid that boring scientific process and start in the classroom!

Krauss could hardly have known this, but our own climate cranks play the same game. I hate to make an example of this article because the author usually covers science well, nevertheless it highlights the point. In an effort to provide balance to a story on how the IPCC might be made better the author contacted Vincent Gray for comment, here’s the paragraph

Wellington scientist and climate change sceptic Vincent Gray said the researchers were continually coming up with “new models” but they were still “fiddling the figures” and were unlikely to restore public confidence in their work until their projections were proven

That sounds pretty fair doesn’t it? Climate scientists can run their model forward in time and if their projections match observations we’ll take action. Actually, it’s absurd. As Krauss emphasised in his talk, the evidence for climate change doesn’t only come from models, we have tonnes of data that tell us the earth is warming and the seas are rising. Combine those data with the fact recent temperature records are within the uncertainties of the IPCC’s projections and sea levels are near to the upper bound of those projections and Gray’s sound bite seem less fair.

Krauss had more problems than solutions in his hour long presentation. In fact, it’s a testament to the passion he has for his science and skill he has as a scientific communicator that he managed make a talk made almost entirely of depressing facts seem invigorating. The only ray of hope Krauss offered us was that when people’s backs are to the wall they abandon their their preconceptions and to turn to science. In 2003 George W. Bush said that he believed “both sides” of the “evolution debate” should be taught in schools. In 2005 Bush was faced with the prospect of Avian flu becoming able infect humans. Confronted with threat of a flu pandemic the Bush administration dispensed with its evolutionary agnosticism and planned for the possibility of genetic mutations allowing viruses to pass from human to human. That sort of infectivity requires conformational changes in surface proteins which create a new function, exactly the sort of phenomenon the ID crowd think is so improbable as to be effectively impossible.

Krauss will be presenting something very similar to his Dunedin talk in Auckland next week. I’d encourage anyone who has the chance to get out and seem him, he’s a very chrasmatic and interesting speaker. You might even ask the question I really wish I did now- how are we going to fix all these problems?

Nucleotide diversity – what two new African genomes mean David Winter Feb 26

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ResearchBlogging.org

If you wanted evidence that we live in a post-genomic age you would need to look no further than the headlines in the science section of the newspaper last week. A man dubbed Inuk who lived and died in Greenland 4 000 years ago had dry earwax and might have gone bald if he lived long enough, Tutankhamun was inbred and had a cleft palate and Desmond Tutu has had his whole genome sequenced. What about the science behind the hook? Ed Yong has the the story of Inuk (whose genes tell us about migrations into and out of North America). I’ll leave it the reader to imagine what the broader significance of Titankhamun’s illnesses might be but the publication by Stephan Schuster and colleagues of complete genomes from Desmond Tutu and !Gubi, a Khoisan tribal elder, is an important step in our understanding of human genomic diversity.

As I’ve said before there really is no such thing as the human genome. There are millions of differences between individual genomes and we are each born with about 150 new muations. In an age in which we can sequence assemble and analyse entire genomes in two years understanding the breadth of human genetic diversity is at last an achievable goal and if you want to understand human diversity then you need to look to where we came from. Trace any family tree back far enough and you will end up in Africa and, in fact, most of human history was played out entirely in that continent. Modern humans arose in Africa about 250 000 years ago and only spread out to Europe and the rest of the world in the last 60 000 years, displacing Homo erectus in the process. The migrants that founded the modern European, Asian and American populations would have carried with them only fraction of humanity’s genetic diversity when they left Africa but untill recently genomics has focused on those populations. Until last week the two African genome sequences available to researchers were both from Yoruban volunteers to the hapmap project. Although those sequences are very useful they represent only one tip in the deeply branching tree of humanity

Summary of human genetic diversity redrawn from Campbell and Tishkoff (2008) doi:10.1146/annurev.genom.9.081307.164258 . Numbers in brackets are the number of complete genome sequences from each region available before last week.

To broaden our understanding of African genomes Schuster et al looked to the South of the continent and at two people in particular. !Gubi is a Khoisan (or bushman), a member of a one of the earliest diverging groups within the humanity while Desmond Tutu hails for various Bantu peoples. The results taken from theses genomes along with lower density sequencing and genotyping of other Bantu and Khoisan volunteers reinforces just how much genetic diversity exists within Afirca. By using a method called principle component analysis to reduce a the correlations among millions of single base pair differences (single nucleotide polymorphisms or SNPs) to a smaller set of uncorrelated vectors you can see patterns in the genetic diversity of groups. Applying this method to West African (Bantu and Yoruba), Khoisan and European populations reveals the comparative genetic homogeneity within Europeans and that the difference between the two African groups is comparable to that between either of them an Europeans.

All in all Schuster et al found 1.3 million SNPs that hadn’t been previously identified. Those new polymorphisms will be a boon to researchers searching for a genetic basis to, for instance, HIV restiance in Africa or African-American’s increased risk to type 2 diabetes. Just as interesting as the new SNPs is the discovery of others that have already been associated with diseases even though Desmond Tutu and !Gubi are healthy 80 year olds. A couple of scientists quoted in dispatches seem to think these genomes will act as quality control, allowing researchers to ‘clean up’ polymorphisms incorrectly associated with dieseases in other studies but it seems at least as likely that something more complex is going on. The selective, or health, value of a gene can only be measured against the environment it is expressed in and the rest of the genome is absolutely part of that environment. It’s entirely possible for a gene to be associated with Wolman disease amongst Europeans but to be of no consequence to busman thanks to the different genetic background against which it expressed.

Uncovering the genetic basis of these diseases and untangling the complex genetic interactions that underly populations’ risk to disease still lies in the future but this study also tells us something about our past. Most Khoisan are nomadic hunter-gathers and their ancestors have been for thousands of years, by comparing their sequences to those from agricultural societies you can see the evolutionary impacts of that change in lifestyle. Some malaria resistance genes, scars from humanities long battle with that disease that was amplified when agriculture lead to increased population density, are absent from the Khoisan sequences as are genes for digesting lactose as adults. Though those primitive characters have been retained by the Khoisan they are no more an ‘ancient’ or primitive people than the tuatara is a ‘living fossil’. In fact, there are a large number of bases in which European sequences are identical to the corresponding chimpanzee sequence while the Khoisan sequences diverge – lots of those changes will have been fixed at random but the fact some of them are in genes that are likely target of selection (especially perception of taste and smells and immune responses) suggests they may also have adaptive consequences.

The paper is available to under a creative commons license here and if you feel suitably qualified you can play with their data which has been released on the Galaxy framework.

Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J, Alkan C, Kidd JM, Sun Y, Drautz DI, Bouffard P, Muzny DM, Reid JG, Nazareth LV, Wang Q, Burhans R, Riemer C, Wittekindt NE, Moorjani P, Tindall EA, Danko CG, Teo WS, Buboltz AM, Zhang Z, Ma Q, Oosthuysen A, Steenkamp AW, Oostuisen H, Venter P, Gajewski J, Zhang Y, Pugh BF, Makova KD, Nekrutenko A, Mardis ER, Patterson N, Pringle TH, Chiaromonte F, Mullikin JC, Eichler EE, Hardison RC, Gibbs RA, Harkins TT, & Hayes VM (2010). Complete Khoisan and Bantu genomes from southern Africa. Nature, 463 (7283), 943-7 PMID: 20164927

Charles Darwin and the Origin of Spouses David Winter Feb 12

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Happy Darwin Day everyone! Today would have been Charles Darwin’s 201st birthday so around the world geeks are celebrating, churches are standing up to creationism and at least a few biologists are trying to eat their way through the tree of life. With Darwin Day falling so close to Valentines Day I thought it might be fun to forget about Darwin’s science just for a few minutes and look at his attitude to love and marriage.

No one has ever accused Darwin about making a rush to judgement about any topic. Just as he spent years poring over the minutest detail of barnacle anatomy before he published The Origin he gave the topic of marriage careful consideration before singing on. In fact, preserved in his notebooks we have a record of the deliberations he undertook. Sometime in 1838 Darwin turned to a new page in his notes and drew a line down the middle, he added the headings “Marry” and “Not Marry” to either side of the line an proceeded to list the pros and cons of either decision. You can see the notebook here but below (presented without comment) is a transcript :

Marry

  • Children — (if it Please God)
  • Constant companion, (& friend in old age) who will feel interested in one
  • Object to be beloved & played with —better than a dog anyhow.
  • Home, & someone to take care of house
  • Charms of music & female chit-chat.
  • These things good for one’s health.
  • Forced to visit & receive relations but terrible loss of time.

Not Marry

  • No children, (no second life), no one to care for one in old age.
  • What is the use of working ‘in’ without sympathy from near & dear friends—who are near & dear friends to the old, except relatives
  • Freedom to go where one liked — choice of Society & little of it.
  • Conversation of clever men at clubs
  • Not forced to visit relatives, & to bend in every trifle.
  • To have the expense & anxiety of children
  • Perhaps quarelling
  • Loss of time.
  • Cannot read in the Evenings
  • Fatness & idleness
  • Anxiety & responsibility
  • Less money for books &c
  • If many children forced to gain one’s bread. (But then it is very bad for ones health to work too much)
  • Perhaps my wife wont like London; then the sentence is banishment & degradation into indolent, idle fool

On the “marry” side of the page Darwin makes his conclusion:

  • My God, it is intolerable to think of spending ones whole life, like a neuter bee, working, working, & nothing after all.
  • No, no won’t do. — Imagine living all one’s day solitarily in smoky dirty London House.
  • Only picture to yourself a nice soft wife on a sofa with good fire, & books & music perhaps — Compare this vision with the dingy reality of Grt. Marlbro’ St.
Darwin made his list a year before his engagement to his cousin Emma Wedgwood and it seems from their letters to each other and their personal diaries that Charles’ “nice soft wife” more than made up for the money he didn’t get to spend on books. There is a movie out at the moment which apparently makes much of the religious divide between the Darwins. Emma was certainly a devout Unitarian (apparently she made the children turn their heads during the Nicene Creed and their local Anglican church!) who worried that Charles’ skepticism of religion would prevent them from being joined in Heaven. Religion was a sticking point for the Darwins but they reached a sort of detente on the topic epitomised by one of Emma’s letters to Charles during their engagement:

When I am with you I think all melancholy thoughts keep out of my head but since you are gone some sad ones have forced themselves in, of fear that our opinions on the most important subject should differ widely. My reason tells me that honest & conscientious doubts cannot be a sin, but I feel it would be a painful void between us. I thank you from my heart for your openness with me & I should dread the feeling that you were concealing your opinions from the fear of giving me pain.

Did the Moa’s ancestor fly to New Zealand? David Winter Feb 04

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New Zealanders often think of our unique biota as a sort of time capsule – a glimpse at lifeforms that have long since been extinguished in other parts of the world. New Zealand has been apart from the rest of the world for 85 million years. At that time the land that makes up our mini-continent split from the super-continent Gondwana, opening up the Tasman Sea and moving northward . A land apart from the rest of the world. Until recently most scientists have thought that the subset of the Gondwanan flora and fauna that set sail on that proto-New Zealand was likewise on its own evolutionary trajectory -insulated from biological happenings in the rest of the world. The idea of the New Zealand biota as a group of refugees from an ancient ecosystem hanging onto “Moa’s Ark” has become part of the New Zealand psyche.

In recent years Moa’s Ark has sprung more than a few leaks. Icons of our Gondwanan heritage like Nothofagus beech trees have been shown to be recent arrivals. Geologists have suggested the whole continent submerged 20 million years ago, drowning any refugees still on board, and now new research suggests even the most unlikely of immigrants – the giant, flightless moa – may have arrived in New Zealand well after we left Gondwana.

The group of birds to which the moa belonged, the ratites, have long fascinated evolutionary biologists. All the ratites are flightless (though, as we’ll see they are related to the quail-like tinamous which can fly passably well) and all the major landmasses that had their start in Gondwana had at least one ratite species before humans arrived on the scene. Africa has ostriches, South America the rhea, Australians have emus and cassowary, Madagascar had the Elepahant bird and New Zealand lost the moa but retains the kiwi. The far flung distribution of the ratites and their apparent lack of ability to disperse between continents has led to them being put forward as a classic example of an idea called vicariance biogeography in which the evolutionary history of a group is driven by the geological history of the land on which they live.

For vicariance biogeographers the evolution of the ratites was driven by the movement of the continents. The ancestor of all modern ratites was a flightless bird living in Gondwana and as each new continent split and rifted away from the super continent it took with it a population of ratites which adapted to the ecological changes brought on by their continent’s journey: cassowaries in the Wet Tropics of Australia, ostriches on the African Savannah, rhea on the Pampas. It’s certainly a nice story, but science has a way of ruining nice stories. The role of vicariance of evolution in the ratites was put to the test once we became able to use molecular evidence to reconstruct the relationships between species. If the geologically driven sketch of ratite evolution I presented above is right then the pattern of branching we find among ratites from different continents should match the order in which we know the continents broke up, something like this:

In 2001 Alan Cooper and colleagues sequenced the entire mitochondrial genome (some 12 000 bases of DNA) from representatives of each of the extant ratites and, remarkably, two species of moa. The long, careful process of retrieving DNA sequences from sub-fossil bones deserves a post of its own but for the sake of this article we only need to know what Cooper et al found when they used that DNA to recover the the relationships between ratite species.

The species in bold text above don’t fit the pattern that we’d expect from geology alone. If ratite relationships simply reflected the Gondwanan breakup we’d expect to see ostriches grouping with rheas (and apart from the other ratites). New Zealand’s two ratite orders are even more surprising, the kiwi lineage is more closely related to the Australian ratites than it is to the moa species. When combined with a molecular clock analysis Cooper et al. concluded that modern kiwis are the descendants of ancient immigrants hailing from either Australia or islands in the Lord Howe Rise (which have since submerged). In order to explain that trans-tasman dispersal the authors reached for the last resort of the desperate biogeographer and invoked a land bridge for which there is little geological evidence. In fact, as we’ll see it now seems more likely that the ancestors of the kiwi and the moa flew to New Zealand.

Even with the mitochondrial phylogeny of the group published there was considerable room for uncertainty in how the ratites related to each other. The underlying shape of ratite tree makes it particularly difficult to accurately recover with phylogenetic methods. When we use DNA sequences to estimate a phylogenetic tree we need to find species that share mutations that have accrued during the evolution of the group we’re looking at. The branches that relate the different ratite species are relatively short, so there was little time for mutations that set related groups apart from more distantly related ones to accrue. Even worse, the branches that reach to the modern species (the tips of the tree) are very long meaning there has been a lot of time to any mutations that did accrue in those critical short branches to be overwritten*. There are three approaches to dealing with this problem – sequence more genes (since each unlinked gene acts as a separate witness to the evolution of the group), sequence more samples (especially if doing so breaks up a long branch) or use a better model for the way mutations accrue in the genes you are studying. People have tried all three methods to get a better look at ratite evolution. Last year a group centred around the Field Museum in Chicago published a mutli-gene phylogeny of all birds that contained a big surprise for ratite evolution- the most recent common ancestor of all ratites flew.

As long as the ratites grouped together in a phylogeny it was reasonable to assume that they all inherited their flightlessness from the common ancestor of the group. The Field Museum study found that, in fact, the flying tinomous fit right in the middle of the flightless ratites. So, either the most recent common ancestor of the ratites and the tinamous flew and ratite lineages have subsequently lost that ability at least three times or that ancestor was grounded and the tinamous have rediscovered flight. In vertebrates the evolution of true flight has happened three times (in bats, pterosaurs and birds) while there are hundreds of examples of birds that have given up on flying. Moreover, a group of flying birds that are prone to flightlessness is hardly anything new – at least 30 species of rail (including our own weka and takahe) have taken to life on the ground. Given the ways the odds are stacked towards losing flight it seems probable the common ancestor that relates tinamous and ratites flew. The Field Museum study didn’t include any moa species and didn’t attempt any molecular dating so it’s hard to see just how the ancestors of the kiwi and the moa made it to New Zealand

A new study (I knew I’d get to it eventually) published in Systematic Biology throws some light on the New Zealand ratite story. Matt Philips and a team of researchers from the Alan Wilson Centre at Massey University took another look at the mitochondrial dataset used in Cooper et al’s 2001 study by adding more kiwi species and using models of DNA evolution that avoid some of the pitfalls of the ratite phylogeny’s difficult shape. The new ratite tree and a molecular clock analysis based on that tree confirm the idea of multiple loses of flight in the ratites and add a new finding – the closest living relatives of our giant moa are the quail-like tinamous:

So what does the new understanding of ratite relationships mean for our ideas about the origins of New Zealand’s ratites? The molecular clock doesn’t quite tick with the regularity of a stopwatch, so there is a good deal more uncertainty in the timing of the events presented above than the precisely defined nodes suggest. Still, even with the uncertainty of molecular dating taken on board we can safely say that both the New Zealand ratite lineages departed from their closest relatives after the Tasman Sea opened up.

The revelation that the tinamous are the moa’s closest living relatives suggests that the moa had ancestors that could fly. So, it seems the first proto-moa to arrive in New Zealand flew, or more likely was blown, here from Antarctica. Antarctica? It still seems amazing to me but 30 million years ago Antartica was still attached to South America and, without the circumpolar current to isolate from the world, was a relatively verdant continent. We know from fossils that Antarctica supported southern beech forests (still found in Chile, New Zealand and Australia) and marsupial mammals (strangely absent in New Zealand but still present in Australia and South America) so it’s no great stretch to propose the representatives of another Gondwanan group lived there. Antarctica certainly seems like a more likely jumping off point for dispersing proto-moa than South America, but either way it certainly seems they made it here under their own power.

The mode of dispersal for the kiwi’s ancestor is a little less clear. As we’ve seen we can be quite sure that they arrived in New Zealand after the Tasman Sea opened up and there is really no good evidence that there was ever a land-bridge across that sea. We can probably rule out walking. If we disregard the problem of dispersal for a second the simplest way to explain the distribution of flightlessness on the Phillips et al phylogeny is with a single loss of flight in an ancestor shared by kiwis and the Australian ratites. Under that scenario the kiwi would, presumably, have had to raft to New Zealand. Alternatively, given that we’ve seen the ratites seem to have an inbuilt propensity to becoming flightless we might imagine that the common ancestor shared by the kiwi and the Australian ratites could fly and each lineage has since lost that ability. In this case the kiwi could simply have flown from Australia to New Zealand (a journey that storms frequently inflict on Australian birds today). Without sufficiently old ratite fossils from either country it’s hard to choose one scenario over the other.Long range dispersal by rafting is probably an important force in biogeography but if I was forced to make a bet I’d put my money on ancient flying kiwis.

The radical rethink of ratite evolution that a decade of molecular phylogenetics has forced on us raises a lot of interesting questions. What it is it about the ratite body plan, development or behaviour that makes them so prone to flightlessness? Is that repeated loss of flight, and consequent lack of pressure to keep their weight down, enough to explain the trend towards gigantism? The authors of the most recent paper suggest both trends might be explained by ratites on each continent filling the ecological niches left by the extinction of the dinosaurs. The dates on their tree are certainly consistent with the idea that each ratite lineage independently took to the ground 65 million years ago but without more fossils and more precise dates for each split it’s very hard to test the idea further. I’m sure the story of ratite evolution has more surprises for us to uncover.

*

Outrageously geeky aside: these sorts of phylogenetic trees can even fall into the terrifying Felsenstein Zone in which the confidence with which you estimate the wrong tree increases as you throw more data at it.

Links to the primary literature are provided below but you should also check out Simon Collins excellent piece in the Herald and Mike Dickison, who got his PhD studying giant flightless birds and wrote about the idea that ratites flew to New Zealand way back in 2007.

Cooper A, Lalueza-Fox C, Anderson S, Rambaut A, Austin J, & Ward R (2001). Complete mitochondrial genome sequences of two extinct moas clarify ratite evolution. Nature, 409 (6821), 704-7 PMID: 11217857

Harshman, J., Braun, E., Braun, M., Huddleston, C., Bowie, R., Chojnowski, J., Hackett, S., Han, K., Kimball, R., Marks, B., Miglia, K., Moore, W., Reddy, S., Sheldon, F., Steadman, D., Steppan, S., Witt, C., & Yuri, T. (2008). Phylogenomic evidence for multiple losses of flight in ratite birds Proceedings of the National Academy of Sciences, 105 (36), 13462-13467 DOI: 10.1073/pnas.0803242105

Phillips, M., Gibb, G., Crimp, E., & Penny, D. (2009). Tinamous and Moa Flock Together: Mitochondrial Genome Sequence Analysis Reveals Independent Losses of Flight among Ratites Systematic Biology, 59 (1), 90-107 DOI: 10.1093/sysbio/syp079

The why of the Y-Chromosome’s amazing evolutionary rate David Winter Jan 15

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There is something faintly pathetic about the Y-chromosome when its lined up with its peers in a karyotype. Each of the 22 numbered chromosomes pair off with a near identical partner just their size while the Y has to shape up to the X which has more than twice as much DNA and 25 times as many functional genes.

The puny Y-chromosome only looks worse when you realise that mammalian sex chromosomes weren’t always so mismatched. 160 million years ago the X and Y were just another pair of chromosomes, albeit the pair that the carried the sex determining gene SRY. Over time the chromosome that went on to become the Y stopped swapping genes with its partner, allowing it to maintain a suite of genes that are beneficial in male bodies but not in females. It’s the lack of genetic recombination that sent the Y into its decline. Genes on any other chromosome can be swaped between pairs, meaning over many generations individual gene copies (called alleles) are exposed to natural selection independently of alleles either side of them. The same process doesn’t apply to alleles on the Y-chromosome. Since the Y is always passed on as a single unit natural selection acts on the whole thing – a broken gene might make it into the next generation because it is attached to beneficial mutations. The efficiency of natural selection is further reduced in the Y-chromosome because it has a relatively small effective population size (less that one quarter of that for normal chromosomes since only males carry the Y and then in only one copy and even then a larger number of males than females don’t contribute to the next generation) which makes genetic drift a strong force.

What we’ve known about the Y-chromosome’s past has has shaped out ideas about what it is now and what it will become. Until quite recently the Y was seen as more or less a derelict chromosome, a few broken remnants of the genes still found on the X and a couple of male-specific genes hanging on the the sex determining gene SRY. People have even go so far as to extrapolate the Y’s long slow decline to a future time at which the Y will simply disappear. The first clue that the Y-chromosome might be a little more resilient than that came in 2003. The publication of the complete sequence of the human Y-chromosome revealed more than fossils from the Y’s more substantial ancestor. There are plenty of those so called “X-degenerate” segments but most of the active genes in the Y are in large repetitive runs of DNA called the “ampliconic regions”. The genes in these regions are mainly made of DNA sequences unique to the Y chromosome and are expressed only in the testes – suggesting the Y has been making its own genes at the same time that its been losing the X-degenerate ones.

Untill this week it has been hard to test the idea of a regenerating Y-chromosome in an evolutionary framework. Those large repeated runs of DNA are very hard to sequence (the standard metaphor is putting together a jigsaw puzzle made entirely of sky) so we haven’t had another Y-chromosome sequence to compare ours with. Now, thanks to Jeniffer Hughes and colleagues, we do and the result it stunning. Not only has the Y-chromosome been making genes, it’s been making them at an outrageous rate. Thirty percent of our Y-chromosome sequences have no counterpart in the chimpanzee. As the authors say that’s the sort of divergence you’d expect to see between humans and chickens, which are separated by 310 million years of evolution not humans and chimps which only split 6 million years ago!

It’s evident that, far from being in the tail end of an inexorable decline, the Y-chromosome is evolving a good deal more quickly than the rest of the genome. So, the burning question is what is behind that evolutionary rate? There is probably no single answer to that question but it’s safe to assume it results from some of the unique features of the Y-chromosome; a lack of genetic recombination, the presence of those large repetitive sections of DNA and the preponderance of male specific genes.

It’s usually a good idea when trying to explain an evolutionary phenomenon to think of explanations that don’t invoke natural selection as the main driver as a sort of null hypothesis against which to test other ideas. In this case the increased fixation of new genes on the Y-chromosome might simply reflect an increased rate of production of new genes. Those highly repetitive sections of the Y-chromosome are the perfect substrate for a process called ectopic gene conversion in which a Y-chromosome can recombine with itself and as a result duplicate streches of DNA. We know from human studies that a process like this has made wide scale structural changes in the last 100 000 years and it might be enough to explain the Y’s unusual gene production.

I think it’s very likely that natural selection also plays a role in the number of of those new genes that become fixed in the human and especially the chimp lineage. Most of the active genes on the Y-chromosome are expressed in the testes and involved in sperm production. Chimpanzees are highly polygynous polygynandrous [Thanks to Harvest Bird for pulling me up on this,], in most cases a female will mate with each of several dominant males in a troop, and a result sperm competition is an important level of selection. Although humans aren’t as polygamous as chimps (and likely haven’t been in our recent history) it’s clear that fertility selection is still an important force and we know for sure that mutations in the Y-chromosome can lead to infertility so, again, the fate of new genes on the Y-chromosome are likely to be driven by selection.

Both the adaptive and non-adaptive explanations above might will be influenced by the lack of recombination in the Y-chromosome. The reduction in the efficiency of natural selection described above will stop very slightly deleterious mutations from being driven to extinction which might mean new genes that would be selected against on any other chromosome become fixed on the Y. This phenomenon can be enhanced when it is coupled with selection producing a ’selective sweep’. If a new beneficial mutation, perhaps associated with sperm competition or fertitily selection, pops up in on a chromosome with a bunch of other mutations that whole thing will be selected for and driven to fixation which has the potential to make for large scale changes quickly.

It is likely that the amazing evolutionary rate of the Y-chromosome is a result of some combination of all these factors but it should be possible to disentangle at least some of their contributions. If sperm competition is a major driver of Y-chromosome evolution then it follows that animals that go in for purely monogamous relationships will have comparatively low rates. Evolution has furnished us a natural experiment to test this idea, all gibbon species form pair bonds and are highly monogamous. We could test the sperm production hypothesis by sequencing the Y-chromosome of two gibbon species and calculating the rate of evolution of a Y-chromosome in a monogamous species. .Although I’m happy to present the test of this idea I’m not going to line up to do it, those repetitive sections of DNA make sequencing Y-chromosome so hard that it took 13 years to do the human one and 8 to finish the chimp one.

Hughes, J., Skaletsky, H., Pyntikova, T., Graves, T., van Daalen, S., Minx, P., Fulton, R., McGrath, S., Locke, D., Friedman, C., Trask, B., Mardis, E., Warren, W., Repping, S., Rozen, S., Wilson, R., & Page, D. (2010). Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content Nature DOI: 10.1038/nature08700

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