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Haifan Lin and colleagues report the identification in Drosophila of a protein complex composed of Hsp90 Piwi, and the Hsp70/Hsp90 Organizing Protein Homolog (Hop) and demonstrate the function of this complex in buffering against morphological changes in a sensitized background.
Xavier Argout and colleagues report the draft genome of Theobroma cacao, the tropical crop that is the source of chocolate. The sequence assembly covers approximately 80% of the genome.
The International Strawberry Sequencing Consortium reports the draft genome of the woodland strawberry (Fragaria vesca). The genome of this diploid species should serve as a reference genome for the Fragaria genus, as the cultivated strawberry (Fragaria × ananassa) is an octoploid where F. vesca is predicted to be a subgenome donor.
Johan Paulsson and Dann Huh report a mathematical modeling analysis proposing that stochastic partitioning errors during cell division contribute to non-genetic heterogeneity between cells in a population. They find that fluctuations arising from such partitioning errors are difficult to suppress and can mimic noise in gene expression.
Ewan Pearson and colleagues report a genome-wide association study for glycemic response to metformin in individuals with type 2 diabetes. They identify variants near ATM associated with treatment success.
Emmanuel Mignot and colleagues report genome-wide association analyses identifying a new susceptibility locus for narcolepsy. They identify associated variants in the 3′ untranslated region of P2RY11, a purinergic receptor that modulates immune cell viability.
Tom Karlsen and colleagues report a genome-wide association study for primary sclerosing cholangitis, a chronic bile duct disease. They identify susceptibility loci at MST1 and near BCL2L11.
Jason Carroll and colleagues report that the forkhead protein FOXA1 is an important determinant of estrogen receptor binding and show that expression of FOXA1 in non–breast cancer cells is sufficient to confer estrogen receptor binding and response to endocrine treatment.
Zi-Jiang Chen and Yongyong Shi report a genome-wide association study for polycystic ovary syndrome, a common metabolic and endocrine disorder in women. They identified three susceptibility loci associated with this condition.
Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15.
Michel Georges and colleagues perform high-throughput resequencing of 63 positional candidate genes identified through genome-wide association studies to search for rare coding variants influencing risk of Crohn's disease. They identify low-frequency coding variants in IL23R that confer protection against inflammatory bowel disease but conclude that rare coding variants in these positional candidates do not make a large contribution to Crohn's disease risk.
Johannes Dauwerse and colleagues report the identification of mutations in the genes encoding subunits of RNA polymerases I and III, which are involved in transcription of rRNA and tRNA, in individuals with Treacher Collins syndrome. These findings support the hypothesis that TCS is a ribosomopathy.
Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.
Michel Georges and colleagues identify a founder mutation in CCDC39 associated with primary ciliary dyskinesia in Old English Sheepdogs. They further show that mutations in human CCDC39 cause a similar phenotype and that CCDC39 is required for the assembly of inner dynein arms and the dynein regulatory complex.
Paul Brennan, Stephen Chanock and colleagues performed a genome-wide association study for renal carcinoma. They identified two genetic susceptibility loci.
Rebecca Burdine and colleagues show that CCDC40 is required for motile cilia function and correct left-right patterning in mouse, zebrafish and humans. Their findings highlight an essential role for CCDC40 in the assembly of inner dynein arms and dynein regulatory complexes.
Loes van der Zanden and colleagues report results of a genome-wide association study of hypospadias, a common congenital malformation of the male external genitalia. They show that variants in DGKK on the X chromosome are associated with substantially elevated risk of this disorder.
Yoshiya Kawaguchi and colleagues show that a Sox9-positive progenitor pool located in the epithelia of the biliary and pancreatic ducts of adult mice serves as a continuous source of intestinal cells, hepatocytes and pancreatic acinar cells, identifying a shared pathway underlying the cellular renewal of these adult endodermal organs.
Ken Ong and colleagues report meta-analysis of 32 genome-wide association studies for age at menarche. They identify 30 loci newly associated with age at menarche, including four that were previously associated with BMI.
Jianzhi Zhang and Xionglei He report analyses of published RNA sequencing data examining relative expression levels between genes located on the X chromosome and genes located on autosomes. Unlike previous reports of dosage compensation between the X chromosome and autosomes, their analyses detect an X:autosome expression ratio of ∼0.5.