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Plant genomes are the index that will allow plant breeders and researchers to access the information contained in the world's seed banks, with each allele linking germplasm, genotype and phenotype. The journal endorses the international DivSeek initiative and will work with authors to ensure access to phenotype data linked to published genetic data.
Large copy number variants (CNVs) are strongly associated with morphogenetic processes and common neurodevelopmental disorders. A new study uses the example of Williams-Beuren syndrome (WBS) and Williams-Beuren region duplication syndrome to illustrate how induced pluripotent stem cells (iPSCs) and next-generation genomics can lead to a better understanding of complex genetics.
The coevolution of plants and microbes has shaped plant mechanisms that detect and repel pathogens. A newly identified plant gene confers partial resistance to a fungal pathogen not by preventing initial infection but by limiting its spread through the plant.
Recent years have seen the rapid growth of large-scale biological data, but the effective mining and modeling of 'big data' for new biological discoveries remains a significant challenge. A new study reanalyzes expression profiles from the Gene Expression Omnibus to make novel discoveries about genes involved in DNA damage repair and genome instability in cancer.
Benjamin Raphael and colleagues report an analysis of altered subnetworks of somatic aberrations in TCGA pan-cancer data sets, including 3,281 samples from 12 cancer types, using a newly developed HotNet2 algorithm. They identify 16 significantly mutated subnetworks and provide a more comprehensive view into altered pathways, including those with known roles in cancer development.
Rudolf Fehrmann, Lude Franke and colleagues report a method for capturing the variation present within mammalian transcriptomes in a limited number of 'transcriptional components' and demonstrate widespread correlation between gene copy number and expression levels. The method allows for the inference of candidate gene function and the identification of potential therapeutic targets in cancer.
David Reich, Shamil Sunyaev and colleagues report an analysis of the per-genome accumulation of nonsynonymous substitutions across diverse pairs of human populations. They find no evidence for a higher load of deleterious mutations in non-Africans than in West Africans and show that the observed patterns are not likely to reflect changes in natural selection.
Giuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy number variants at 7q11.23, which cause syndromes including neurocognitive phenotypes. They find that the dosage of the transcription factor gene GTF2I accounts for 10–20% of the transcriptional dysregulation observed in these cells.
Nancy Jenkins and colleagues report the use of Sleeping Beauty transposon mutagenesis screens in mice to identify new genes involved in tumor progression in colorectal cancer. They identify 111 common transposon insertion sites present in all cohorts, including Znf292, a new tumor suppressor whose human counterpart is also mutated in human colorectal cancer.
Ding Ma, Hui Wang, Xun Xu and colleagues report a genome-wide map of HPV integration sites in cervical cancer samples and cell lines. In addition to discovering new integration hot spots, the authors identify microhomology-mediated DNA repair as a likely mechanism by which HPV integrates into the human genome.
Georgia Chenevix-Trench and colleagues report meta-analyses of genome-wide association studies identifying six loci newly associated with epithelial ovarian cancer (EOC). They also test variants at the 12 known and 6 new EOC susceptibility loci for association in BRCA1 and BRCA2 mutation carriers.
John Rioux, Andre Franke, Tom Karlsen and colleagues perform a fine-mapping study of the HLA region in Crohn's disease and ulcerative colitis. They identify a primary role for HLA-DRB1*01:03 in both diseases and find evidence of heterozygous advantage in protection against ulcerative colitis.
Akiko Shimamura and colleagues report the identification of dominant-negative germline variants in ETV6 that cause thrombocytopenia and hematologic malignancies in the affected members of three families. All three mutations alter conserved amino acids in the transcriptional repressor encoded by ETV6 and affect its DNA binding.
