Recorded: 29 May 2003
Oh it’s just my list of things to talk about. Oh so there was, another topic is population genetics, human genetics. I’ve been for 15 years, my office is next door to office of Luca Cavalli-Sforza who is sort of one of the granddads of the molecular approaches to study human population genetics. He’s been doing this for a long, long time. Luca’s I think in his mid-80s. He’s finally going to retire this year. And he’s been very active. I got interested in understanding human population migrations and how we’re related to each other and how we’re not related to each other.
So about a year ago, I coordinated a group, an effort with actually six laboratories, my laboratory and Greg Barsh and his group at Stanford, Luca Cavalli-Sforza, Mark Feldman, and Wah Tan, five of us actually. Wah Tan is a professor at Stanford as well. And we got together and took 51 populations that are around the world. These were from a collection that Luca started many years ago, working with other labs as well, called the Human Genome Diversity Panel. And these 51 populations are an average of 20 individuals from each one that were unrelated to each other. And we genotyped those on 650,000 SNPs; at the time that was about the highest we could go. And then analyze the data to see where they were similar and where they were different. And we learned just tremendous… It really was just a treasure of information. Because the level of depth that we went in terms of the SNPs was higher than it ever had been.
But also just looking worldwide was, made it very interesting. So we learned a lot of interesting things. And that’s gotten me very interested in population genetics. So we’re going to try to expand that project to other populations. One of the things we learned in addition to seeing how groups are related to each other, we looked at not only genotypes of individual SNPs, but analyzed the data for copy number variation as well, ’cause you can use genotyping to do that. And we find regions of the genome that are changed dramatically, meaning big segments that are either duplicated or deleted. And the likelihood of some of those being functional are much higher than single SNPs just because your chances of hitting a gene or a functional region are much higher. And we’re just analyzing the data for this but learning some very interesting patterns.
I think it’s so exciting to see changes in individuals or in populations that look like they might be due to selection for instance, depending on when the group arrived in a particular region and what kind of pressures they were under. We’ve done some of this Greg Barsh and Wah Tan’s lab to look even at the phenotypes, not just saying that the people from particular regions of the world but actually looking at some of the phenotypes in the individuals. So I think this is an area that the technology…ah, the field needs to catch up with the technology now. Because the degree to which we can look at population genetics, and maybe even epigenetics I think is enabled by these new technologies.
Population geneticists typically were not really technology driven, and so they would look at a few markers. And I mean I think that it’s a little overwhelming, actually. Luca was completely overwhelmed by the amount of data we’re generating compared to the way that it’s been done before. I mean think about this – we genotyped 650,000 SNPs. We actually have gone back to genotype another 350 to get additional copy number information from the Human Genome Diversity Panel. But imagine maybe two or three or five years from now, we’ll just sequence all of those DNAs. And not just learn, you know the polymorphisms that are common, but really get down to the detail, molecular detail throughout the entire genome, of where the rearrangements are occurring, what the mutation rates are functional variance, new mutations that are new and rare mutations that probably have functional consequence, et cetera.
That really, really is changing and should change the field of population genetics. And that’s human; same is going on and should be going on in flys and every other organism ‘cause we learn a huge amount from them as well. And certainly there’s some of that going on now and I think there’ll be a lot more.
Richard Myers, biochemist and geneticist, is currently Director of the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama.
Following his undergraduate degree in biochemistry from the University of Alabama (B.S., 1977), Dr. Myers earned his Ph.D. in Biochemistry from the University of California at Berkeley (1982) with Robert Tjian. His postdoctoral work was performed at Harvard University with Tom Maniatis. In 1986 he joined the faculty of the University of California at San Francisco, and remained there until 1993 when he moved to Stanford University School of Medicine. He had been Professor and Chair of the Department of Genetics and Director of the Stanford Human Genome Center until July 2008 when he was named to his current position.
Dr. Myers is a member of numerous committees concerned with human genetic diseases and the Human Genome Project including the Genome Resources and Sequencing Prioritization Panel (GRASPP) and is Chair of the Genome Research Review Committee of the National Human Genome Research Institute of the National Institutes of Health. He is also a member of the Biology and Biotechnology Program Advisory Committee of the U.S. Department of Energy. Dr. Myers has received numerous awards including the Pritzker Foundation Award (2002), the Darden Lecture Award from the University of Alabama (2002), the Wills Foundation Award (1986-2001) and was a Searle Scholar (1987-1990).
Myers was involved in every human genome meeting at Cold Spring Harbor Laboratory and has attended CSHL symposia since 1986.