Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Ancient DNA Online
Svante Pääbo and his colleagues at the Max Planck Institute for Evolutionary Anthropology posted a free high-res version of the Denisovan genome online to allow other researchers to use the sequence in their work, reports ScienceInsider's Ann Gibbons. In 2010, Pääbo and his team sequenced the finger bone of a Denisovan girl found in a Siberian cave. "In January … Pääbo was at a meeting in Sweden when he realized that researchers in other labs were poring over year-old sequence data that was far less complete than what his colleagues had obtained in the lab in the past year using sensitive, new methods to sequence ancient DNA," Gibbons says. "The team has now sequenced every position in her genome an average of 30 times, using DNA extracted from less than 10 milligrams of the finger bone of the ancient girl. This 30x coverage provides more detailed information than the 1.9-fold coverage the team published in Nature in late December 2010." Pääbo tells Gibbons that he hopes that giving the higher-resolution sequence away to other researchers will make it possible to create a complete catalogue of all the evolutionary changes that occurred when modern humans diverged from the Denisovans.