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.
Winners in Medicine
Elizabeth Blackburn, Carol Greider, and Jack Szostak won the 2009 Nobel Prize in medicine for their work on telomeres, reports the Associated Press. In the 1970s, Blackburn identified repeating segments at the ends of DNA in Tetrahymena while Szostak found that single-stranded DNA was rapidly degraded in yeast. Blackburn and Szostak then collaborated on a project, finding that the Tetrahymena DNA protected the single-stranded DNA from degradation in yeast. In 1984, Blackburn and Greider, her graduate student, discovered telomerase. The Nobel citation lauds these researchers for their contribution to the study of aging, cancer, and other diseases. "The discoveries by Blackburn, Greider and Szostak have added a new dimension to our understanding of the cell, shed light on disease mechanisms, and stimulated the development of potential new therapies," it says.
Blackburn was also the Daily Scan poll favorite. She led the pack with 43 percent of the vote. She was followed by her co-laureate Szostak who garnered 25 percent of the vote.