Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Newborn screening panels for genetic diseases are now nearly uniform across the United States, and expanded panels now test for diseases for which there is no known treatment. This expansion of newborn screening raises questions about whether traditional assumptions of implied consent are appropriate.
A genome-wide association study conducted among women with deleterious BRCA1 mutations has identified a common allele associated with breast cancer risk in BRCA1 carriers and estrogen receptor–negative breast cancer in the general population. This suggests that genetic association studies focused on particular subtypes may provide further insight into complex diseases.
A new study demonstrates that PRDM9 variation in humans leads to profound differences in the activity of hotspots for both allelic recombination and genomic instability. Although PRDM9 is found to play a role in many more human hotspots than previously suspected, the search remains for additional, undetermined factors involved in defining hotspot locations and intensities.
The genome sequence of the domesticated apple has been assembled and compared to previously sequenced plant genomes. The genetic sequence of the 17 apple chromosomes shows evidence of a recent genome duplication that may have spawned the additional gene family members needed for the evolution and development of the unique fruit structure of the apple termed the pome.
Peter Robinson and colleagues performed exome sequencing on three siblings to identify mutations in PIGV in Hyperphosphatasia-Mental Retardation (HPMR) syndrome.
Michael Hammer and colleagues follow two recent conflicting reports regarding the ratio of X-linked to autosomal nucleotide diversity by examining this question in a larger resequencing dataset and in publicly available sequence data from six human genomes. They suggest that the patterns of nucleotide diversity are influenced by local selection near genes that more strongly affects the X chromosome than the autosomes.
Riccardo Velasco and colleagues report the genome sequence of the 'Golden Delicious' domesticated apple. These data shed new insight into the genomic events that preceded the origin of this crop.
Friedhelm Hildebrandt and colleagues combine homozygosity mapping with candidate exome capture and high-throughput sequencing to identify SDCCAG8 mutations as the cause of a retinal-renal ciliopathy. They further show that SDCCAG8 localizes to centrioles and that its depletion causes renal cysts and cell polarity defects.
Vamsi Mootha and colleagues report high-throughput targeted sequencing of 103 candidate genes in 103 individuals with human mitochondrial complex I deficiency. They identify two genes newly associated with complex I deficiency and are able to provide genetic diagnoses in 22% of their previously unsolved cases.
Alec Jeffreys and colleagues report that variation at PRDM9 in humans influences sperm recombination hotspot activity, independent of a consensus binding motif, as well as meiotic genome instability.
Toshimasa Yamauchi and colleagues report results of a genome-wide association study of type 2 diabetes in the Japanese population. They identify new risk loci at UBE2E2 and C2CD4A-C2CD4B and show that the latter is also associated with type 2 diabetes risk in Europeans.
Arno Palotie, Verneri Anttila and colleagues report a genome-wide association study of migraine. They identify a variant on chromosome 8q22.1 associated with risk of migraine.
Simon Gayther and colleagues report a genome wide association study for ovarian cancer. They identify two new susceptibility loci at 2q31 and 8q24 and two suggestive susceptibility loci at 3q25 and 17q21.
Paul Pharoah and colleagues report a genome-wide association study for survival time after diagnosis of epithelial ovarian cancer and a parallel analysis of susceptibility to epithelial ovarian cancer. They identified two SNPs at 19p13.11 that associated with susceptibility to the serous subtype of epithelial ovarian cancer.
Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.
Yataro Daigo and colleagues report a genome-wide association study for lung adenocarcinoma in Japanese and Korean populations, identifying a susceptibility locus at TP63.
Caroline Klaver and colleagues report a genome-wide association study for myopia and refractive error in the general population, identifying a susceptibility locus at 15q14.
Christopher Hammond and colleagues report a genome-wide association study for myopia and refractive error, identifying a susceptibility locus at 15q25.
Gudmar Thorleifsson and colleagues report a genome-wide association study for primary open angle glaucoma, identifying a susceptibility locus near CAV1 and CAV2.
Pierre Coulombe and colleagues show that ablation of keratin 17 in mice delays the initiation of skin tumors driven by constitutive Hedgehog signaling. Mice lacking keratin 17 show reduced skin inflammation and an altered cytokine profile, suggesting an immunomodulatory role in regulating Hedgehog-driven skin tumorigenesis.
