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Ankita Patel and colleagues report microdeletions and microduplications on chromosome 1q21.1 in a series of individuals with features of microcephaly and macrocephaly, as well as developmental delay and neuropsychiatric abnormalities.
Siegbert Melzer and colleagues report that in Arabidopsis the absence of MADS box proteins SOC1 and FUL leads to phenotypes of perennial woody plants, with indeterminate meristems, secondary growth with wood formation, and recurrent growth cycles.
Richard Lifton and colleagues report the identification of three susceptibility loci for intracranial aneurysm. Two of the loci are new, with SNPs on chromosome 8q likely acting through SOX17, which is required for the formation and maintenance of endothelial cells.
Robert Blelloch and colleagues report the use of Dgcr8 knockout embryonic stem cells to identify ES cell-specific microRNAs that regulate the G1-S transition of the ES cell cycle.
Hannie Kremer and colleagues report the identification of mutations in LROMT associated with profound nonsyndromic hearing loss. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2.
Hadi Al-Hasani and colleagues report that a frameshift deletion in Tbc1d1 in lean SJL mice underlies a quantitative trait locus conferring protection against high-fat diet-induced obesity. TBC1D1 seems to influence metabolism by regulating fatty acid uptake and oxidation in skeletal muscle cells.
Simon Stacey and colleagues report results of a genome-wide association study for cutaneous basal cell carcinoma. They identify two loci, at 1p36 and 1q42, associated with BCC risk, and show that neither is associated with melanoma or pigmentation traits.
Stefan Schreiber and colleagues report the results of a genome-wide association study for ulcerative colitis. Variants flanking the gene encoding the cytokine IL10 are associated with increased risk of disease, as are several other loci.
Nonsyndromic cleft lip with or without cleft palate has been associated with SNPs in the IRF6 gene. Now Jeff Murray and colleagues report the identification of a common variant in a previously unknown IRF6 enhancer that shows strong evidence of association with cleft lip only and disrupts the binding site of transcription factor AP-2α.
Nazneen Rahman and colleagues report the identification of constitutional imprinting center mutations, epimutations and uniparental disomy in individuals with nonsyndromic Wilms tumors.
Doug Epstein and colleagues present biochemical and transgenic studies implicating Six3 in the regulation of Shh forebrain expression through direct binding to a remote enhancer. The work was driven by the discovery of a rare variant in this enhancer in an individual with holoprosencephaly
Katsushi Tokunaga and colleagues report the results of a genome-wide association study for narcolepsy. A variant on chromosome 22 between CPT1B and CHKB is associated with increased risk of the disorder. Both gene products have previously been linked to the physiology of sleep, making each a potential susceptibility factor.
Chuanqing Sun and colleagues show that the gene PROG1, encoding a zinc-finger protein, determines the erect growth habit in rice. Sequencing of 182 varieties of cultivated rice reveals an identical mutation in the PROG1 coding region, suggesting a common origin for erect growth during rice domestication.
Hong-Xuan Lin and colleagues report that the gene PROG1 has an important role in determining the architecture of wild rice, including tiller angle and number of tillers. PROG1 encodes a zinc-finger transcription factor, and the authors suggest that selection of an amino acid substitution in PROG1 during domestication facilitated the transition to the architecture of domesticated rice.
Zuhua He and colleagues identify the gene underlying a quantitative trait locus for grain-filling in rice, which contributes to grain weight. The gene, GIF1, encodes a protein with cell-wall invertase activity and may have been under selection during rice domestication.
Helen Hobbs and colleagues report an association between coding variation in PNPLA3 and susceptibility to nonalcoholic fatty liver disease. The associated alleles vary in frequency among Hispanics, African Americans and European Americans and contribute to differences in disease prevalence among these ancestry groups.
Thaddeus 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.
Edward 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.
Kazuhiko 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.
Kari Stefansson and colleagues report results of a genome-wide association study for urinary bladder cancer. The strongest association was with a variant on 8q24, located 30 kb upstream of MYC in a haplotype block distinct from previously reported 8q24 cancer risk variants.