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Aging parents transmit an increasing burden of chromosomal aberrations and mutations. There are also epidemiological correlations between parental age and neurodevelopmental disorders, including autism. The citation and interpretation of these two lines of evidence should be carefully evaluated.
Zhangjun Fei and colleagues report the draft genome of a Chinese elite watermelon inbred line 97103 and resequencing of 20 diverse accessions that represent the three subspecies of Citrullus lunatus. Comparative genome-wide analyses identify the extent of genetic diversity and population structure of watermelon germplasm.
Yijun Ruan and colleagues report the draft genome of the sweet orange, Citrus sinensis. Their data suggests sweet orange originated from a cross between pummelo and mandarin.
Robbie Waugh and colleagues report that the EARLINESS PER SE (EPS2) locus is associated with spring growth habit and environmental adaptation in barley. Resequencing the barley homolog of CENTRORADIALIS, located within the EPS2 locus, in 216 spring and 207 winter barley accessions identified haplotypes at HvCEN that correspond with winter or spring growth habit.
Simeon Boyadjiev and colleagues report a genome-wide association study of nonsyndromic sagittal craniosynostosis, the most common form of craniosynostosis. They identify risk loci near BMP2 on chromosome 20 and within BBS9 on chromosome 7.
David Whitcomb, Bernie Devlin and colleagues report the results of a genome-wide association study of pancreatitis. They identify common variants at two loci associated with risk of this disease, including one on the X chromosome that shows strong evidence of interaction with alcohol consumption.
Sandeep Dave and colleagues report exome sequencing of 59 Burkitt lymphomas. They report recurrent mutations in many genes, including ID3, MYC, GNA13, RET, PIK3R1, NOTCH1 and the SWI/SNF genes ARID1A and SMARCA4.
Daniel Bernard, Jan Wit, Mehul Dattani, Krishna Chatterjee and colleagues show that mutations in IGSF1 cause a new X-linked syndrome characterized by central hypothyroidism and testicular enlargement. Their findings implicate IGSF1 as a positive regulator of thyrotropin-releasing hormone signaling in the anterior pituitary.
Variation in inflorescence architecture in plants affects reproductive success and agricultural yield. Zachary Lippman and colleagues report that the phenotype of the terminating flower (tmf) tomato mutant, the only known tomato mutant with single-flower inflorescence, is caused by a mutation affecting a nuclear protein that regulates known floral meristem identity complex members AN and FA to repress floral termination.
Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip array, in a total of 10,588 cases and 22,806 controls. They identify 15 new susceptibility loci and refine signals in previously known loci, highlighting a role for innate host defense in susceptibility to psoriasis.
Reiner Siebert and colleagues report whole-genome, whole-exome and transcriptome sequencing of Burkitt lymphomas. They identify recurrent mutations in several genes not previously known to be mutated in Burkitt lymphoma, including ID3, FBXO11, DDX3X and RHOA.
Gerd Walz and colleagues use in vivo imaging in Xenopus laevis embryos and show that kidney tubule elongation occurs by a multicellular rosette-based mechanism, which has previously only been observed in Drosophila melanogaster. These data show that rosette-based cell intercalation is a highly conserved cellular mechanism during epithelial morphogenesis.
Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2.
Qing Lan and colleagues report the results of a genome-wide association study of lung cancer in never-smoking women from Asia. They identify three new susceptibility loci and confirm three other previously reported associations.
Jane Worthington and colleagues use a high-density genotyping chip to identify new susceptibility loci for rheumatoid arthritis and examine genetic overlap with other autoimmune diseases. Their results increase the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry and refine the location of many previously identified association signals to single genes.