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This Week in Cell: Dec 22, 2011

MIT's Robert Horvitz and his colleagues show in a Cell paper published online in advance this week that "the CAF-1 protein complex, an evolutionarily conserved histone chaperone that deposits histone H3-H4 proteins onto replicating DNA, is required to generate a bilateral asymmetry in the C. elegans nervous system." Horvitz et al. also show that a mutation in one of 24 histone H3 genes in the roundworm eliminates this asymmetry, due to the inhibition of CAF-1-mediated nucleosome formation caused by a defect in the formation of a histone H3-H4 tetramer.

Over in Cell Reports, a team led by investigators at the University of California, San Francisco, reports on four truncating mutations involving PRRT2 that they identified in paroxysmal kinesigenic dyskinesia with infantile convulsions, or PKD/IC, patients. The team first identified these PRRT2 mutations in 24 of 25 well-characterized PKD/IC-affected families, and later in 28 or 78 additional families.

Yale University School of Medicine's Michael Caplan and his colleagues report in Developmental Cell that the "loss of polycytin-1 expression results in increased proliferation and apoptosis" such that the γ-secretase-dependent release of its carboxy-terminal tail "creates a protein fragment whose expression is sufficient to suppress ADPKD [autosomal-dominant polycystic kidney disease ]-related phenotypes in vitro and in vivo."

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.