In Science this week, a multi-institute research team links Neanderthal-derived DNA with diseases in modern-day humans including ones affecting the immune system, the skin, and mood. Previous studies have suggested that Neanderthals and anatomically modern humans interbred, while others have identified Neanderthal genetic variants in the modern human genome. By comparing a recent genome-wide map of Neanderthal haplotypes with health records of 28,000 adults of European ancestry, the researchers uncovered about 135,000 Neandertal SNPs in modern-day humans. Additional analysis showed that Neanderthal alleles were significantly correlated with the risk for 12 traits including depression, myocardial infarction, and blood disorders. The investigators suggest that the alleles may have provided some benefit to early modern human populations, but became detrimental later on. GenomeWeb has more on this here.
Also in Science, a group from the University of Rochester reviews the state of research around two types of transposable elements — long interspersed elements (LINEs) and short interspersed elements (SINEs), both of which transpose via an RNA intermediate. The researchers discuss how these two retrotransposons have expanded in eukaryotic genomes and influence genome evolution, and examine recent data indicating that LINEs and SINEs regulate gene expression by affecting chromatin structure, gene transcription, pre-mRNA processing, or aspects of mRNA metabolism.