: Genetics Articles
News and Views: Psychiatric genetics gets a boostDefining the molecular nature of the genetic risk of psychiatric disorders has been notoriously difficult. Now, a flurry of genome-wide association studies for schizophrenia and bipolar disorder provides preliminary evidence for replicated signals. Nature Genetics, vol. 40 #9, pp1042-1044 |
News and Views: Casting a wider net for diabetes susceptibility genesRecent successes in identifying loci involved in predisposition to type 2 diabetes have been driven by genome-wide association studies in populations of European descent. A new discovery, using samples of East Asian origin, of diabetes susceptibility variants mapping to the KCNQ1 gene highlights the importance of extending these studies to a wider range of populations. Nature Genetics, vol. 40 #9, pp1039-1040 |
News and Views: Hedgehog in WnterlandHedgehog signaling has a key role in hair follicle development, as well as in induction of the most common cancer in individuals of European descent, basal cell carcinoma (BCC). A new study shows that BCCs strongly resemble embryonic hair follicles and that BCC induction requires active Wnt/β-catenin signaling. Nature Genetics, vol. 40 #9, pp1040-1041 |
Letter: A developmental framework for dissected leaf formation in the Arabidopsis relative Cardamine hirsutaMiltos Tsiantis and colleagues examine leaf formation in Arabidopsis thaliana, which has simple, undivided leaves, and Cardamine hirsuta, which has a subdivided leaf blade with individual leaflets. Using genetics, marker gene expression and cell lineage tracing, the authors show that lateral leaflet formation in C. hirsuta requires establishment of growth foci that form after leaf initiation. Nature Genetics, vol. 40 #9, pp1136-1141 |
Letter: tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaFrank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar hypoplasia. The findings implicate tRNA processing in neurological disorders. Nature Genetics, vol. 40 #9, pp1113-1118 |
Letter: Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosisStefan Schreiber and colleagues report the results of a genome-wide association study for sarcoidosis, a complex chronic inflammatory disorder. Variants near ANXA11 and PLAC9 are associated with elevated risk of the disease, with ANXA11 as the stronger candidate. Nature Genetics, vol. 40 #9, pp1103-1106 |
Letter: Pathological responses to oncogenic Hedgehog signaling in skin are dependent on canonical Wnt/β-catenin signalingAndrzej Dlugosz and colleagues report that Hedgehog-dependent skin tumors require canonical Wnt signaling for their development. Nature Genetics, vol. 40 #9, pp1130-1135 |
Letter: ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulationValerie Cormier-Daire and colleagues report mutations in ADAMTSL2 in geleophysic dysplasia, a connective tissue disorder. The authors present evidence that ADAMTSL2 is an extracellular matrix protein regulating the bioavailability of TGF-β. Nature Genetics, vol. 40 #9, pp1119-1123 |
Letter: Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's diseaseMark Daly, Ramnik Xavier and colleagues report that a 20-kb deletion polymorphism upstream of IRGM is associated with altered IRGM expression and Crohn's disease. They also show that manipulation of IRGM levels in cells modulated the efficiency of autophagic responses to internalized bacteria, suggesting a mechanism by which the deletion variant might influence disease risk. Nature Genetics, vol. 40 #9, pp1107-1112 |
Letter: A common sequence motif associated with recombination hot spots and genome instability in humansGil McVean and colleagues examine recombination hot spots in the human genome, using new search methods and drawing on HapMap II to identify an extended family of hot spot–associated motifs. They report a common sequence motif estimated to be found in ∼40% of recombination hot spots. Nature Genetics, vol. 40 #9, pp1124-1129 |
Letter: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populationsMasato Kasuga and colleagues and Shiro Maeda and colleagues each report the independent identification of SNPs in KCNQ1 associated with type 2 diabetes in the Japanese population. Each group replicated the associations in other populations of East Asian and European descent. Nature Genetics, vol. 40 #9, pp1098-1102 |
Letter: Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitusMasato Kasuga and colleagues and Shiro Maeda and colleagues each report the independent identification of SNPs in KCNQ1 associated with type 2 diabetes in the Japanese population. Each group replicated the associations in other populations of East Asian and European descent. Nature Genetics, vol. 40 #9, pp1092-1097 |