Nature Genetics - Current issue : July 2011 - Vol 43 No 7
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NBEAL2 and gray platelet syndrome
Brief Communication by Meral Gunay-Aygun and Tzipora Falik-ZaccaiIn three separate papers, Meral Gunay-Aygun and colleagues, Cornelis Albers and Willem Ouwehand and colleagues, and Walter Kahr and Jorge Di Paola and colleagues report the identification of mutations in NBEAL2 in gray platelet syndrome, a platelet disorder that can lead to severe bleeding.
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De novo mutations in schizophrenia
Letter by Simon GirardGuy Rouleau, Marie-Odile Krebs and colleagues sequenced the exomes of 14 individuals with schizophrenia and their unaffected parents. They identified 15 de novo mutations, including four nonsense mutations, in eight probands. Their findings support a role for de novo mutations in the etiology of schizophrenia.
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Genetics of prostate cancer
Letter by Zsofia Kote-JaraiRosalind Eeles and colleagues report a multistage genome-wide association study of prostate cancer, identifying seven new prostate cancer susceptibility loci on chromosomes 2p11, 3q23, 3q26, 5p12, 6p21, 12q13 and Xq12.
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Korean genome sequences
Article by Young Seok JuJeong Sun-Seo and colleagues report whole-genome sequencing of ten Korean individuals, exome sequencing on an additional eight Korean individuals and transcriptome sequencing on 17 of these individuals.
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TCTN1 and ciliogenesis
Article by Francesc Garcia-GonzaloJeremy Reiter and colleagues show that Tctn1 is a component of a transition zone complex that regulates ciliogenesis and ciliary membrane composition. They also identify a likely causal mutation in TCTN1 in two siblings with Joubert syndrome.
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Methylation variation in cancer
Article by Kasper HansenAndrew Feinberg, Rafael Irizarry and colleagues report whole-genome bisulfite sequencing of three colon cancers and matched normal tissue and two adenomatous polyps. The authors identify large blocks of relative hypomethylation and gene expression variability.