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This Week in Science: Mar 12, 2010

In an advance, online publication of Science this week, researchers at the Institute for Systems Biology and Complete Genomics, report whole-genome sequences for a family of four. The researchers write that family-based sequencing allows for precision in deciphering recombination sites (to 99.999 percent accuracy), and the identification of rare single-nucleotide polymorphisms. In sequencing the genomes of the mother, father, and their two offspring — one child affected by Miller syndrome, the other by primary ciliary dyskinesia, both recessive disorders — the team was able to identify candidate inherited disease-causing genes. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.

In Science this week, researchers describe Lgr6 as a marker for the most primitive epidermal stem cells in mammals. Using a knock-in Lgr6 murine model, the team found that the gene was expressed in the earliest embryonic hair placodes. "Prenatal Lgr6+ cells established the hair follicle, sebaceous gland, and interfollicular epidermis," the team wrote, while, postnatally, Lggr6-positive cells executed long-term wound repair and formed new hair follicles.

Researchers at Wuhan University in China report that "glutamate-induced, dendritic protein synthesis is sequentially regulated by Pin1 and PKM signaling," in Science Signaling this week. They show Pin1 — a peptidyl-prolyl isomerase — to be present in dendritic spines and shafts, inhibiting protein synthesis induced by glutamatergic signaling. They also show that Pin1 supression increased dendritic translation.

In Science Translational Medicine this week, an international research team reports an advantage in SIV-infected major histocompatibility complex-heterozygous Mauritian cynomolgus macaques — specifically, this group shows 80-times less chronic viremia than MHC-homozygous animals. In addition, MHC-heterozygous macaques accumulate fewer variants after one year of SIV infection, the authors write.

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.