In a letter to Nature published online in advance this week, a large international research team shows that "hundreds of variants clustered in genomic loci and biological pathways affect human height." In a study of 183, 727 individuals, the team identified variants in at least 180 loci "enriched for genes that ... underlie skeletal growth defects that influence," and this influence human height. Among other notable characteristics, the group found that "associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes," they write, adding that their data "explain approximately 10 percent of the phenotypic variation in height," though they hypothesize that "unidentified common variants of similar effect sizes would increase this figure to approximately 16 percent."
Investigators at the University of Pennsylvania School of Medicine report that the U1 small nuclear ribonucleoprotein, which is abundant in humans, "protects pre-mRNAs from premature cleavage and polyadenylation" in another Nature AOP. The team's functional-knockdown of U1 snRNA in HeLa cells enabled them to detect "accumulated, unspliced pre-mRNAs by genomic tiling microarrays" and determine that "U1 snRNA–pre-mRNA base pairing was required to suppress premature cleavage and polyadenylation from nearby cryptic polyadenylation signals located in introns," the authors write.
In a perspectives piece appearing in this week's Nature, J. S. de Bono and Alan Ashworth discuss the implications of integrated cancer research on the development of targeted therapeutics. The pair expects to see an influx of "biomarker-driven adaptive and hypothesis testing clinical trials" in the future, and writes that physicians will eventually make treatment decisions "driven by a detailed understanding of the genetics and biology of the patient and their cancer."
Cold Spring Harbor's Alexander Gann and Jan Witkowski share "the lost correspondence of Francis Crick" in a comment to Nature this week. When London's Wellcome Library "acquired the majority of Crick's professional papers" in 2001, its staff was made aware that "there has been some loss of early correspondence," which Crick believed had been thrown out by who he called his "over-efficient secretary." According to Gann and Witkowski, "it turns out that this lost correspondence was never thrown out, but became mixed in with Sydney Brenner's papers." Daily Scan has more, here.