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Lijun Bi and colleagues report sequencing of 161 tuberculosis strains from China, including 44 drug-sensitive, 94 MDR and 23 XDR isolates. They identify 72 new genes and 28 new intergenic regions significantly associated with drug resistance.
Flaviano Giorgini and colleagues perform an overexpression screen in yeast to identify genes that can suppress the toxic effects of the mutant Huntington's disease protein Htt. They identify glutathione peroxidase activity as a robust suppressor of mutant Htt toxicity and validate these protective effects in Drosophila and in mammalian cell models.
Eli Sprecher, Kathleen Green and colleagues show that biallelic mutations in DSG1 cause a syndrome featuring severe dermatitis, multiple allergies and metabolic wasting. The mutations abolish expression of desmoglein 1, resulting in loss of cell adhesion accompanied by increased expression of several allergy-related cytokines.
Heiko Witt, Miklós Sahin-Tóth and colleagues show that loss-of-function variants in CPA1 are strongly associated with early onset chronic pancreatitis. On the basis of their findings, they propose that the mechanism may involve misfolding-induced endoplasmic reticulum stress rather than elevated trypsin activity.
The cohesin complex mediates sister chromatid cohesion during cell division. Now, Seishi Ogawa and colleagues report largely mutually exclusive mutations in multiple members of the cohesin complex in acute myeloid leukemia, myelodysplastic syndromes, chronic myelomonocytic leukemia, chronic myelogenous leukemia and classical myeloproliferative neoplasms.
Richard Houlston and colleagues report a genome-wide association study of multiple myeloma and identify four loci associated with susceptibility to this malignancy.
Heather Mefford, Ingrid Scheffer and colleagues report the identification of inherited mutations in GRIN2A that cause epilepsy-aphasia syndromes, which have a characteristic EEG pattern and developmental regression affecting language.
Pierre Szepetowski and colleagues report the identification of mutations in GRIN2A in individuals with acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Morris Brown and colleagues identify somatic mutations in ATP1A1 and CACNA1D in aldosterone-producing adenomas with features resembling zonaglomerulosa cells. They further show that the ATP1A1 mutations cause inward leak currents under physiological conditions, whereas the CACNA1D mutations induce a shift of voltage-dependent gating to more negative potentials and suppress channel inactivation.
Christer Betsholtz, Christine Klein, Maria Sobrido and colleagues report the identification of mutations in the gene encoding PDGF-B that cause idiopathic basal ganglia calcification. They also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications.
Yusaku Uga and colleagues show that the gene underlying the rice quantitative trait locus DEEPER ROOTING 1 (DRO1) influences root growth angle and allows plants to maintain high yield performance under drought conditions. They further show that DRO1 is involved in cell elongation in the root tip that causes asymmetric root growth and downward bending of the root in response to gravity.
Richard Lifton and colleagues identify somatic and germline mutations in the CACNA1D calcium channel gene in aldosterone-producing adenomas and primary aldosteronism. Their functional studies show that these mutations result in channel activation at more hyperpolarized membrane potentials, implicating increased Ca2+ influx in disease pathogenesis.
Suzanne Noble and colleagues show that the passage of Candida albicans through the mammalian gut induces expression of the Wor1 transcription factor, triggering a developmental switch that promotes commensal fitness.
David Page and colleagues report an improved assembly of the human X-chromosome using single haplotype sequencing. They used this assembly to systematically test Ohno's law of X-chromosome conservation by comparison to the mouse X-chromsome and identify 341 X-linked protein coding genes that are not shared between species and therefore violate Ohno's law.
Connie Bezzina, Richard Redon and colleagues show that common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disorder with high risk of sudden cardiac death. The newly discovered loci have a large cumulative effect on disease risk and illustrate how common variants can have a strong impact on predisposition to rare diseases.
Philippe Froguel and colleagues report an analysis of large chromosomal clonal mosaic events in individuals with type 2 diabetes. They find a significant association between CME occurrence and T2D with vascular complications.
Thomas Wicker and colleagues report the whole-genome sequencing of four wheat powdery mildew (Blumeria graminis forma specialis tritici) isolates from different geographic regions. Their comparative genomic analysis provides insights into the evolution of powdery mildews, which are obligate biotropic fungal pathogens.
Jaroslaw Maciejewski and colleagues report whole-exome sequencing of 20 cases of myeloid malignancies, with follow up of SETBP1 in 727 further cases of myeloid malignancies. They identify SETBP1 mutations in 52 cases (7.2%).
Seiji Kojima and colleagues report whole-exome sequencing of 13 juvenile myelomonocytic leukemias. They identify RAS pathway mutations in 82 of the 92 total cases analyzed and mutations in SETBP1 or JAK3 in 16 cases.