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Genetic mapping studies in dogs, mice, zebrafish and humans have identified two new genes required for the assembly of motile cilia. The resulting gene products, CCDC39 and CCDC40, may represent previously unidentified components of the dynein regulatory complex.
Data tables are a central element of most scientific papers. Simplified tables with separation of data storage from presentation format are ways to increase the impact and use of research data.
Adult stem cells play pivotal roles in self-renewing tissues but also in the post-injury repair of adult organs that normally show little proliferative activity. A new study shows that Sox9 marks a putative adult stem cell population that contributes to the self-renewal and repair of the liver, exocrine pancreas and intestine, three organs of endodermal origin.
To understand transcriptional regulation, it is necessary to understand the factors that determine where a particular transcription factor binds in the genome. A new study demonstrates that a single protein, FoxA1, can dictate the global DNA binding profile and the transcriptional function of estrogen receptor a in breast cancer cells and in other cell types.
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.