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This Week in PLoS: Apr 25, 2011

In PLoS Biology this week, members of the Encyclopedia of DNA Elements — or ENCODE — Project Consortium present an overview of the initiative in the form of a user's guide. The group hopes the guide will "facilitate the interpretation of the human genome" using ENCODE data.

Over in PLoS Genetics, an international team led by researchers at the Dana-Farber Cancer Institute in Boston presents genome-wide profiles of histone and DNA methylation, and of gene expression for normal human mammary progenitor-enriched and luminal lineage-committed cells. Using ChIP-seq and other approaches, the team "observed significant differences in histone H3 lysine 27 tri-methylation enrichment and DNA methylation of genes expressed in a cell type-specific manner, suggesting their regulation by epigenetic mechanisms and a dynamic interplay between the two processes that together define developmental potential."

A team led by researchers at the University of Queensland this week shows that CLCN7, GALNT3, IBSP, LTBP3, RSPO3, and SOX4 are associated with either extreme high or low hip bone mineral density, and consequently, fracture risk. In their PLoS Genetics paper, the researchers also report the replication of replicates 21 of 26 reported bone mineral density-associated genes, as well as the identification of a loss-of-function mutation in GALNT3 in a novel mouse model, which they say is associated with high bone mass.

In PLoS One this week, an international team led by investigators at the University of Sydney reports that "telomere length is heritable in free-ranging sand lizards, Lacerta agilis." In analyzing the heribitily of telomere length within and between the sexes, the team found that "paternal age at conception is the best predictor of [telomere length] in sons, and that "processes maintaining telomere length are … associated with negative fitness effects" in L. agilis.

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.