Lactase persistence and dairying on the surface seem to be a simple and compelling example of gene-culture coevolution in humans. And yet there are patterns that confound the simplistic story. I appreciate that @Maddy_Bleasdale et al discuss some of those. nature.com/articles/s4146… Illustration showing allele frequencies associated with lact
Several aspects of lactase persistence genetics are not being covered well by press accounts of this paper. Journalists have gone with a pretty simple "counterintuitive lede", i.e., people were drinking milk before lactase persistence mutations were common.
A look at the great frequency maps in the paper is enough to remind folks of the reality that most lactase persistence-associated alleles *still* aren't very common. They have frequency maxima of 2-5% today and are highly localized. Frequency clines of lactase persistence-associated alleles i
A complication is that when different mutations with similar effects exist within a local population, selection eventually becomes less effective on any one of them alone. Lots of overlap in these distributions (and we can include the 13910 C>T variant introduced from Eurasia).
It's tough to assess presence/absence of low frequency variants with aDNA, which has small sample size. As the paper points out, so far with n~100, only one archaeological individual had one of the alleles. But the skeletal sample doesn't match up well with the current hotspots.
Understanding the joint dynamics of the five alleles would be amazing, and the lack of them in archaeological samples makes it seem this might be in reach with sequencing of large samples in the areas where the mutations are common today.
But to be honest, while it's a great evolution question, we should be focusing on aspects of it that make a difference to future research participants. The archaeology and calculus work is valuable because it builds connections across cultural and genealogical histories.

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More from @johnhawks

27 Jan
A lot of problems in science come down to whether larger amounts of noisy data are better or worse than smaller amounts of high-precision data. Of course, in paleoanthropology we usually are faced with small amounts of noisy data.
Our problems are that paleoanthropologists make up for shortfalls in data by carting in models and assumptions. These take on a life of their own, so much that even new discoveries that provide high-precision data cannot make a dent in most people's research direction.
I'm reading very carefully today an article by @Keilmesser and Marlize Lombard, which presents a very conventional view that large-brained hominins must have made MSA toolkits and smaller-brained hominins could not have done so. It's a thoughtful paper, but I'm unpersuaded.
Read 8 tweets
6 Oct 20
Most people have around a chromosome's worth of DNA from Neandertals, spread in small pieces across all 46 chromosomes.
Or, if you're of male sex, 45 out of 46 of them.
For western Eurasian peoples, the average amount of Neandertal DNA across the genome is around 120 megabases. Eastern Eurasian peoples have a bit more. Chromosome 13 is 114 Mb and 12 is 133 Mb.
Read 5 tweets
3 Oct 20
I'll be making a tabulation of Neandertal specimens that have yielded molecular (DNA, proteomic) sequence information. I know there are more than 30 but I'd like to get an actual count and link photos where possible. This will take a while, and I'll add to this thread as I go.
The first mtDNA fragments published from any Neandertal specimen were from the humerus of the Neandertal 1 skeleton, from the Kleine Feldhofer Grotte near Mettmann, Germany. The partial skeleton was recovered in 1856. Sequencing by Matthias Krings et al. doi.org/10.1016/S0092-… Figure from Krings et al. 1...
Ralf Schmitz and Jürgen Thissen relocated sediments from the Kleine Feldhofer Grotte, excavating in 1997 and 2000. They found new bone fragments that refit the Neandertal 1 skeleton and a humerus fragment (NN 1) that must represent a second individual. doi.org/10.1073/pnas.1…
Read 26 tweets
27 Sep 20
Sometime between 370-150,000 years ago Neandertals got a Y chromosome from a more modern-like source population. This ultimately spread throughout all later Neandertal populations from which anyone has sampled DNA. Map of Europe and western Asia, showing range of Neandertal
The Neandertals and Denisovans originated from a common source population with African ancestors of modern humans sometime between 600 and 700,000 years ago. Population model of Neandertal Y chromosome introgression fr
This means that Neandertals and their Y chromosome donor population had begun to differentiate from each other between 230,000 and 600,000 years before this Y chromosome introgression happened. Neanderthal artist rendering at the Neanderthal Museum, Germ
Read 8 tweets
24 Sep 20
Love to see this new work from @fleventy5 @jfkelso @maxplanckpress outlining Neandertal and Denisovan Y chromosomes. New evidence of genetic mixture of Neandertals and third population closer to today's people. @ScienceMagazine
science.sciencemag.org/content/369/65… Population model for Neande...
I strongly hesitate to use the term "modern humans" in this context. The Y chromosome of Neandertals is from a Y clade that is extinct today, outside the range of present-day Y variation. What we don't know is where that Y clade fit into our structured ancestral populations.
Both the Y chromosome (~250ka) and mtDNA (~200ka) of modern humans have MRCA younger than the time we think that today's populations of modern people began to differentiate (~300ka). Of course, any of these dates could be wrong...
Read 8 tweets
19 Sep 20
Generally, human chromosomes are numbered in order of length. Chromosome 1 is the longest, then 2, and so on. Most people know the sex chromosomes are exceptions; X is longer than 8, Y shorter than 20. Fewer know that chromosome 20 is longer than 19. And 22 is longer than 21. Human karyotype illustratio...
In the 1950s and 1960s, there was a lot of diversity in how different research groups numbered human chromosomes. Length was an obvious criterion, but to reliably sort karyotypes, scientists had to rely on additional characteristics including centromere position and arm lengths. Chromosome numbers from Lej...
The human genetics community worked to standardize the nomenclature of chromosomes in the 1960s, settling on today's numbers, before methods of measuring chromosome length were precise enough to accurately rank relative lengths of the shortest chromosomes.
Read 5 tweets

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