Volume 45 Issue 5, May 2013

Analyses of a new male sterility gene from a well-known rice cytoplasmic sterile line reveal inhibition of a nucleus-encoded protein and counteractions by nuclear fertility restorer factors. The existence of these genes in wild rice populations suggests that they may confer selective advantages.

Alterations in the single-stranded telomere–binding protein POT1 have recently been identified in chronic lymphocytic leukemia. This discovery provides novel insights into how genomic instability induced by dysfunctional telomeres contributes to tumorigenesis.

A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.

Adam Bass, Gad Getz and colleagues report whole-exome sequencing of 149 esophageal adenocarcinomas (EACs) and whole-genome sequencing of 15 EACs. They identify a mutational signature defined by a high prevalence of A>C transversions, as well as 26 genes mutated at high frequency in EACs.

The International Peach Genome Initiative reports the high quality draft genome sequence of peach (Prunus persica). They also resequenced ten additional P. persica accessions, as well as those of Prunus ferganensis, Prunus kansuensis, Prunus davidiana and Prunus mira.

Thomas Nutman and colleagues report the draft genome of the filarial pathogen Loa loa, the African eyeworm. They also report coverage of two other filarial pathogens, Wuchereria bancrofti and Onchocerca volvulus. Unlike most filariae, L. loa lacks an obligate intracellular Wolbachia endosymbiont, and comparative genomic analyses suggest that the L. loa genome does not contain new metabolic synthesis or transport pathways compared to other filariae.

Erik Ingelsson and colleagues report a large-scale genome-wide meta-analysis for associations to the extremes of anthropometric traits, including body mass index, height, waist-to-hip ratio and clinical obesity. They identify four loci newly associated with height and seven loci newly associated with clinical obesity and find overlap in the genetic structure and distribution of variants identified for these extremes of the trait distributions and for the general population.

Sadaf Farooqi, Inês Barroso and colleagues report genome-wide SNP and CNV association analyses for severe obesity in children, selected at the extreme of the distribution for body mass index. They identify four loci newly associated with severe obesity, an enrichment of rare CNVs in severely obese cases and overlap in the loci associated with severe obesity in children and with BMI and obesity in the general population.

Florent Soubrier and colleagues report a genome-wide association study of pulmonary arterial hypertension. They identify a susceptibility locus near CBLN2 associated with a twofold elevated risk of developing this life-threatening disease.

Richard Houlston, Kari Hemminki and colleagues report a meta-analysis of genome-wide association studies of multiple myeloma and identify a variant in the CCDN1 gene that influences risk for developing a specific tumor karyotype with the t(11;14)(q13;q32) translocation.

Carlos López-Otín and colleagues report recurrent mutations in POT1 in chronic lymphocytic leukemia. This is the first member of the telomeric shelterin complex reported to be mutated in human cancer.

Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.

Jill Storry, Martin Olsson and colleagues show that homozygosity for a null allele of SMIM1 defines the Vel– blood group phenotype. SMIM1 encodes an evolutionarily conserved transmembrane protein expressed on red blood cells.

Ana Cvejic, Willem Ouwehand, Cornelis Albers and colleagues show that homozygosity for a null allele of SMIM1 is responsible for the Vel– blood group phenotype.

Leanne Dibbens, Ingrid Scheffer and colleagues report the identification of mutations in DEPDC5 that cause familial focal epilepsy with variable foci.

Stéphanie Baulac and colleagues report the identification of mutations in the DEPDC5 gene that cause focal epilepsies.

Kym Boycott, Mark O'Driscoll and colleagues report identification of mutations in STAMBP, a gene encoding the deubiquitinating isopeptidase STAMBP, in individuals with microcephaly–capillary malformation syndrome.

Michael Bruford and colleagues report whole-genome sequencing of the peregrine (Falco peregrinus) and saker falcon (Falco cherrug). Their comparative analysis with five avian species provides insight into falcon evolution and adaptation to a predatory lifestyle.

Wesley Warren and colleagues report the whole-genome sequence of the platyfish, Xiphophorus maculatus, providing the first genome of a poeciliid fish. They provide a resource for this model organism used to study traits including viviparity, complex behaviors, pigmentation and cancer, and their comparative analysis provides insights into evolutionary adaptations in natural teleost populations.

Yao-Guang Liu and colleagues identify the molecular basis of male sterility in the Wild Abortive CMS (CMS-WA) system that has been widely used for hybrid rice breeding. They report that a new mitochondrial gene, WA532, confers male sterility because its protein product interacts with the mitochondrial protein COX11 and leads to cytoplasmic-nuclear incompatibility.