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This Week in Nature: Feb 24, 2011

Cold Spring Harbor Laboratory's Jonathan Sebat and his colleagues report in a Nature paper published online in advance that copy-number gains at 7q36.3 are significantly associated with schizophrenia risk. In a two-stage, genome-wide scan for rare copy-number variants related to the neuropsychiatric disorder, the CSHL-led team found microduplications with variable breakpoints no more than 89 kilobases upstream of VIPR2 in 0.35 percent of schizophrenia patients versus 0.03 percent of controls. They show that "VIPR2 transcription and cyclic-AMP signaling were significantly increased in cultured lymphocytes from patients with microduplications of 7q36.3," and suggest that the VPAC2 receptor may be a useful target for anti-psychotic drug development.

A team led by investigators at the Salk Institute presents its generation of iPSCs from Hutchinson-Gilford progeria syndrome patient fibroblasts, which the researchers say recapitulate signs of premature aging, including "absence of progerin, and more importantly, lack the nuclear envelope and epigenetic alterations" associated with the condition. "Specifically, directed differentiation of HGPS-iPSCs to [smooth muscle cells] leads to the appearance of premature senescence phenotypes associated with vascular aging," the Salk researchers and their collaborators write, adding that their iPSCs broaden the purview of in vitro studies on human premature aging pathogenesis and the physiology of vascular aging.

In a Nature Genetics advance online publication, researchers at Washington University in St. Louis and their colleagues report a draft sequence of the parasitic nematode Trichinella spiralis genome. The WashU-led team sequenced the T. spiralis genome, which contains an estimated 15,808 protein-coding genes, at approximately "35-fold coverage using whole-genome shotgun and hierarchical map-assisted sequencing," and found in its subsequent comparative analysis that there are intra-chromasomal rearrangements across the nematode phylum. "This genome sequence and the identified pan-phylum characteristics will contribute to genome evolution studies of Nematoda as well as strategies to combat global parasites of humans, food animals and crops," the authors write.

Also in Nature Genetics this week, an international team led by researchers at the Oklahoma Medical Research Foundation shows that a functional variant downstream of TNFAIP3 is associated with systemic lupus erythematosus. "By fine-mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT>A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE," the authors write.

The Scan

White-Tailed Deer Harbor SARS-CoV-2 Variants No Longer Infecting Humans, Study Finds

A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.

Study Points to Benefits of Local Consolidative Therapy, Targeted Treatments in Cancer Care

In JCO Precision Oncology, researchers report that local consolidative therapy combined with molecularly targeted treatments could improve survival for some lung cancer patients.

Genetic Variants That Lower LDL Cholesterol Linked to Reduced Heart Disease Risk

Rare variants in two genes that lower LDL cholesterol are also associated with a decreased risk of coronary heart disease, according to a new JAMA Cardiology study.

Study Links Evolution of Longevity, Social Organization in Mammals

With the help of comparative phylogenetics and transcriptomics, researchers in Nature Communications see ties between lifespan and social organization in mammals.