In this week's Science, researchers from the University of Washington report on a new technique for analyzing parts of the Neandertal genome using genetic data from modern-day humans. The team identified DNA sequences from these hominids that remain in present-day non-African humans, comparing them with the genomes of modern people from Europe and East Asia. They discovered that about 20 percent of the Neandertal genome has survived in modern populations, with large portions of Neandertal sequences absent. However, they also found sections of the modern genome with more Neandertal DNA than was expected, suggesting that these sequences offered adaptive advantage.
GenomeWeb Daily News has more on this and a related Nature paper here.
Also in Science, a team from the University of California, San Diego, and elsewhere describe the creation of a map of mutations that cause hereditary neurodegenerative disorders known as hereditary spastic paraplegias (HSPs). Using whole-exome sequencing in combination with network analysis, the scientists identified 18 previously unknown putative HSP genes and validated nearly all of them functionally or genetically. Additionally, the work uncovered a host of further candidate genes, of which three were mutated in people participating in the study. In a related perspective article, a researcher from the National Institute on Aging examines the study and the combination of genetics and functional analyses. " This study clearly adds another dimension to our understanding of HSP," NIA's Andrew Singleton writes. "With this knowledge, we can turn toward fulfilling the ultimate promise of genetics: translating this understanding into etiology-based therapies"