: Genetics Articles
News and Views: Kras and Hras—what is the difference?Kras, Hras or Nras mutations occur at varying frequencies across different tumors in humans for unknown reasons. A new study shows that, in mice, locus-specific regulatory elements determine whether mutations in Hras or Kras will predominate in lung and skin tumors. Nature Genetics, vol. 40 #10, pp1149-1150 |
News and Views: Casting an eye on the Krebs cycleA new study identifies recessive, loss-of-function mutations in IDH3B, encoding a subunit of the NAD-specific isocitrate dehydrogenase, in individuals with retinitis pigmentosa. The lack of any obvious clinical signs in other tissues in these individuals forces a reassessment of the physiological role of this enzyme outside of the retina. Nature Genetics, vol. 40 #10, pp1148-1149 |
News and Views: Kidney disease and African ancestryMapping by admixture linkage disequilibrium (MALD) leverages differences in disease frequencies among ancestry groups to map disease-susceptibility loci on the basis of genetic admixture. Two new studies use MALD to identify variation at the MYH9 locus as a major factor for the increased risk of nondiabetic kidney disease in African Americans. Nature Genetics, vol. 40 #10, pp1145-1146 |
News and Views: Pristionchus pacificus: an appropriate fondness for beetlesThe nematode Pristionchus pacificus associates with one particular beetle and eats its rotting corpse. The report of the genome sequence of P. pacificus, the fifth nematode to be sequenced and a useful secondary nematode genetic model system, highlights genes that may have influenced the route to parasitism. Nature Genetics, vol. 40 #10, pp1146-1147 |
Letter: Systematic assessment of copy number variant detection via genome-wide SNP genotypingEvan Eichler and colleagues present an analysis of how well current commercial SNP platforms accurately capture copy number variants (CNVs). Although they were able accurately predict from Illumina Human 1M genotype data many sites identified in their recent study assessing CNVs in nine human individuals with a fosmid paired-end sequence approach, they find that commonly used platforms offer limited coverage for a large fraction of CNVs. Nature Genetics, vol. 40 #10, pp1199-1203 |
Letter: A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemiaRichard Houlston and colleagues identify variants at six loci associated with risk of chronic lymphocytic leukemia. These findings confirm that common, low-penetrance susceptibility alleles contribute to this hematological malignancy and provide new insights into disease etiology. Nature Genetics, vol. 40 #10, pp1204-1210 |
Letter: Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycleThaddeus Dryja and colleagues identify homozygous loss-of-function mutations in IDH3B, encoding the beta subunit of the NAD-specific isocitrate dehydrogenase enzyme, in two families with retinitis pigmentosa. The absence of obvious clinical phenotypes outside of the retina suggests that the NADP-specific form of this enzyme can compensate for the absence of the NAD-specific form in most human tissues. Nature Genetics, vol. 40 #10, pp1230-1234 |
Letter: Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel diseaseHakon Hakonarson and colleagues report the identification of two new susceptibility loci for inflammatory bowel disease (IBD). One variant is near a gene encoding tumor necrosis factor receptor subfamily member 6B and is associated with increased levels of this protein in serum from individuals with IBD. Nature Genetics, vol. 40 #10, pp1211-1215 |
Letter: A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapseEdward Patterson and colleagues report that a missense mutation in the gene encoding dynamin 1 (DNM1) is associated with exercise-induced collapsed in Labrador retriever dogs. This is the first documented mutation in DNM1 in mammals and suggests a critical role for dynamin 1 in maintaining proper neurotransmission under conditions of high synaptic activity. Nature Genetics, vol. 40 #10, pp1235-1239 |
Letter: Common variants at CD40 and other loci confer risk of rheumatoid arthritisRobert Plenge and colleagues report the results of a meta-analysis of published genome-wide association studies that led to the identification of two previously unknown variants associated with rheumatoid arthritis. Nature Genetics, vol. 40 #10, pp1216-1223 |
Letter: Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese populationKazuhiko Yamamoto and colleagues report an association of two SNPs in CD244 with increased risk of rheumatoid arthritis. These variants promote increased expression of CD244 in luciferase reporter assays. Nature Genetics, vol. 40 #10, pp1224-1229 |
Letter: Kras regulatory elements and exon 4A determine mutation specificity in lung cancerRas family genes are common targets for somatic mutations in human cancer: KRAS is frequently mutated in lung carcinomas, whereas HRAS mutations are common in skin tumors. Allan Balmain and colleagues use genetic engineering of ras genes in mice to show that specificity for ras mutations is determined by local regulatory elements, and that Kras 4A is the major oncogenic isoform of Kras. Nature Genetics, vol. 40 #10, pp1240-1244 |