This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Friday, January 31, 2020

Week 3: The Human Genome - Africans carry surprising amount of Neanderthal DNA






As members of Homo sapiens spread from Africa into Eurasia some 70,000 years ago, they met and mingled with Neanderthals. Researchers knew that later back-migrations of Europeans had introduced a bit of Neanderthal DNA into African populations, but previous work suggested it was a just a smidgen. In contrast, modern Europeans and East Asians apparently inherited about 2% of their DNA from Neanderthals
Previous efforts simply assumed that Africans largely lacked Neanderthal DNA. The researchers found that African individuals on average had significantly more Neanderthal DNA than previously thought—about 17 megabases (Mb) worth, or 0.3% of their genome. They also found signs that a handful of Neanderthal genes may have been selected for after they entered Africans’ genomes, including genes that boost immune function and protect against ultraviolet radiation.
The best fit model for where Africans got all this Neanderthal DNA suggests about half of it came when Europeans—who had Neanderthal DNA from previous matings—migrated back to Africa in the past 20,000 years. The model suggests the rest of the DNA shared by Africans and the Altai Neanderthal might not be Neanderthal at all: Instead, it may be DNA from early modern humans that was simply retained in both Africans and Eurasians—and was picked up by Neanderthals, perhaps when moderns made a failed migration from Africa to the Middle East more than 100,000 years ago.

Thursday, January 30, 2020

Adding Diversity to the Human Genome: GenomeAsia 100K Project


Genomic datasets have been criticized for lack of diversity due to an overabundance of European samples compared to non-European samples. The GenomeAsia 100K project was established to help expand current knowledge of genetic diversity, especially as it pertains to Asian populations. The pilot project aims to produce and analyze a dataset of whole genome sequences for 1,739 individuals across 64 different countries. Sampled individuals came from countries such as India, South Korea, Pakistan, Malaysia, and the Philippines, with particular emphasis on populations that have been relatively underrepresented in other projects.

Population genetics studies using this dataset have determined subpopulation split times as well as analyzed differing degrees of Denisovan admixture within south and southeast Asian populations. In the medical field, research suggests that the dataset has promising potential for expanding current knowledge of variants causing genetic-related diseases. For example, 2 unique variants were identified in PMS2--a gene coding for a protein involved in DNA repair--that may link to a higher predisposition for developing cancer. Continued contributions from the GenomeAsia 100K project will hopefully improve our efforts to understand more about human genetic diversity and ability of genomics to inform social, historical, and medical questions.

Audrey Tjahjadi

Link to the original article: https://www.nature.com/articles/s41586-019-1793-z.pdf
Link to the project website: https://genomeasia100k.org/