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This Week in Science: Jan 14, 2011

In Science Translational Medicine this week, a public-private research collaboration led by Stephen Kingsmore at the National Center for Genome Resources in Santa Fe, NM, reports its next-gen sequencing-based screen for 448 severe recessive childhood diseases. Kingsmore et al. say that their screen scans "7,717 regions from 437 target genes ... to a depth of up to 2.7 gigabases" and provides an average coverage of 160x, though "93 percent of nucleotides had at least 20x coverage." As it's cheaper than whole-genome sequencing, the team suggests that "carrier screening by NGS made available to the general population may be an economical way to reduce the incidence of and ameliorate suffering associated with severe recessive childhood disorders."

In a paper published online in advance in Science this week, investigators at Israel's Weizmann Institute of Science discuss the dynamics of the proteome half-life of human cancer cells. Using the bleach-chase method to measure the half-lives of fluorescently tagged proteins, the Weizmann team assayed 100 proteins. The researchers found "half-lives that ranged between 45 min and 22.5 hours." When they applied stress to the cancer cells, the researchers also observed that the "long-lived proteins became longer-lived, whereas short-lived proteins remained largely unaffected."

Researchers at Harvard Medical School and Helicos BioSciences show in a Science preprint that the "over-expression of satellite transcripts in cancer may reflect global alterations in heterochromatin silencing and could potentially be useful as a biomarker for cancer detection." In its digital gene expression analysis of mouse and human epithelial cancers, the Harvard-Helicos team saw that pericentromeric satellites made up 12 percent of all cellular transcripts on average and found that the de-repression of these transcripts "correlated with over-expression of the LINE-1 retrotransposon and with aberrant expression of neuroendocrine-associated genes proximal to LINE-1 insertions."

And in another paper published online in advance this week, investigators at Japan's Nara Institute of Science and Technology demonstrate that transient "translational pausing ensures membrane targeting and cytoplasmic splicing of XBP1u mRNA." More specifically, in its mutational analysis of XBP1u, the Nara Institute team found the "conserved peptide module at the carboxyl terminus that was responsible for the translational pausing," which it found is "required for the efficient targeting and splicing of the XBP1u mRNA."

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.