In a paper published online in advance in Nature this week, a team led by investigators at the National Cancer Institute shows that "CTCF-promoted RNA polymerase II pausing links DNA methylation to splicing," thus, it says, providing "a mechanistic basis for developmental regulation of splicing outcome through heritable epigenetic marks."
Researchers in China report loci and variants associated with schizophrenia susceptibility this week in Nature Genetics. A team led by investigators at Peking University presents a genome-wide association study in which researchers identified two susceptibility loci for schizophrenia at 6p21-p22.1. Researchers at Shanghai Jiao Tong University and elsewhere present a GWAS in which they found that "common variants on 8p12 and 1q24.2 confer risk of schizophrenia."
In another Nature Genetics paper, a public-private team led by investigators at Pfizer reports its use of exome sequencing on 22 gastric cancer samples, in which they found "genes involved in chromatin modification to be commonly mutated." Further, in a downstream validation study, the Pfizer-led team confirmed frequent mutations in ARID1A. "Clinically, ARID1A alterations were associated with better prognosis in a stage-independent manner," the authors write.
Over in this week's issue, Nature notes that according to an UK Department of Business, Innovation and Skills report, "the United Kingdom was second only to the United States in terms of total scientific-paper citations last year. … In 2010, UK papers had 3.46 million citations; those from the United States had 13.2 million."