Unknown Hominin Genome
Krause J, Fu Q, Good JM, et al. (2010). The complete mitochondrial DNA genome of an unknown hominin from southern Siberia. Nature. E-pub.
Krause and colleagues report the complete mitochondrial DNA genome sequence of an unknown hominin. The researchers write that they retrieved the mtDNA from a bone that was excavated in 2008 from Denisova Cave in the Altai Mountains, and that it represents a "hitherto unknown type of hominin mtDNA that shares a common ancestor with anatomically modern human and Neandertal mtDNAs about one million years ago." The researchers suggest that the Denisova hominin lived closely in time and geographical proximity with Neandertals as well as modern humans.
CNVs and Common Diseases
Wellcome Trust Case Control Consortium. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. (464) 713-720.
Investigators at the WTCCC report their genome-wide association study of 3,432 distinct polymorphic CNVs in a cohort of approximately 19,000 individuals. Their replications confirmed three loci where CNVs were associated with diseases: one for Crohn's disease; another for Crohn's, rheumatoid arthritis, and type 1 diabetes; and the third for type 2 diabetes. The authors write that these loci had previously been identified in SNP studies and that common CNVs appear to be "well tagged by SNPs." This suggests that CNVs that can be typed on existing platforms and "are unlikely to contribute greatly to the genetic basis of common human diseases," they say.
Isolation of N-terminal Peptides
Wildes D and Wells JA. (2010). Sampling the N-terminal proteome of human blood. PNAS. (107) 4561-4566.
In this paper, Wildes and Wells present their method to label and isolate N-terminal peptides from human plasma and serum, which "dramatically reduces the complexity of the sample by eliminating internal peptides." They write that, with their method, it is possible to "identify substrates from specific proteases with the exogenous addition of the protease along with N-terminal isolation and quantitative mass spectrometry."
Human Heart Enhancers
Narlikar L, Sakabe NJ, Blanski AA, et al. (2010). -Genome-wide discovery of human heart -enhancers. Genome Research. (20) 381-392.
This paper reports a method for the genome-wide discovery of human heart enhancer factors. In it, the authors describe a "strategy to systematically identify tissue-specific cis-regulatory elements that share combinations of sequence motifs." Using heart development as a model, the team was able to distinguish heart enhancers from a pool of random, non-coding sequences. The authors suggest that their results support the existence of cis-regulatory codes that dictate tissue-specific transcription in mammalian genomes.