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.
Julie Williams and colleagues report a genome-wide association study for Alzheimer's disease. They identify variants at the CLU and PICALM loci associated with susceptibility to late-onset Alzheimer's disease.
Leonard van den Berg, Roel Ophoff and colleagues present a genome-wide association study of sporadic amyotrophic lateral sclerosis. The work uncovers associated SNPs at 9p21.2 and an associated locus at 19p13.3 mapping to the UNC13A gene.
K. Lenhard Rudolph and colleagues report that conditional p53 deletion in the intestinal epithelium of aging mice impaired the depletion of chromosomal-instable stem cells and shortened the lifespan of telomere-dysfunctional mice without inducing tumor formation.
Elaine Fuchs and colleagues present mice conditionally lacking Tcf3 and Tcf4 in the skin and show that they play a role in long-term maintenance and wound repair of both epidermis and hair follicles.
Evan Eichler and colleagues have developed an algorithm called mrFAST to map short, next-generation sequence reads across the genome that allows for the accurate prediction of copy-number variation.
Eric Brown and colleagues report the mosaic deletion of ATR combined with loss of p53 led to accumulation of highly damaged cells and severe defects in tissue regeneration in adult mice.
Yardena Samuels and colleagues report a mutational analysis of the protein tyrosine kinase family in cutaneous metastatic melanoma. They find ERBB4 mutations in 19% of tumors and show that these mutations enhance ERBB4 kinase activity and transformation ability, identifying ERBB4 as a potential drug target in melanomas carrying these mutations.
David Craig and colleagues recently reported methods allowing detection of individual genotypes from summary data of high-density SNP arrays. Eran Halperin and colleagues now report analyses of the statistical power of these methods, employing likelihood ratio statistics to provide an upper-bound to the limits of detection.
Benjamin Cheyette and colleagues show that mouse Dact1 mutants have posterior malformations arising from impaired morphogenesis of the primitive streak. Their findings suggest a critical role for Dact1 in regulating cell adhesion at the primitive streak by altering levels or distribution of Vangl2 protein at the plasma membrane.
Linda Wicker and colleagues examine the effect of SNPs in the IL2RA region, previously associated to type 1 diabetes, on CD25 protein expression on the cell surface of primary immune cells from donors within the Cambridge BioResource. They demonstrate the value of using fresh primary cells from a large bioresource of genotype-selectable healthy volunteers.
Richard Houlston and colleagues report results of a genome-wide association study of childhood acute lymphoblastic leukemia. Identified risk loci include IKZF1 on 7p12.2 and ARID5B on 10q21.2, which encode transcription factors involved in the differentiation of B-cell progenitors.
Marco Tartaglia and colleagues report the identification of mutations of SHOC2 in individuals with Noonan-like syndrome with loose anagen hair. The mutations cause aberrantly acquired N-myristoylation of SHOC2 resulting in aberrant targeting of SHOC2 to the plasma membrane. SHOC2 is believed to function as a scaffold linking RAS to downstream signal transducers.
Mary Relling and colleagues report results of a genome-wide association study of childhood acute lymphoblastic leukemia (ALL) and its subtypes, identifying a specific association between common variants in ARID5B and B-hyperdiploid ALL.
Joseph Gleeson and colleagues show that mutations in INPP5E, encoding the enzyme inositol polyphosphate-5- phosphatase E, cause Joubert syndrome. Functional studies suggest that the mutations promote premature destabilization of cilia in response to stimulation.
Stephane Schurmans and colleagues show that mice lacking the enzyme inositol polyphosphate-5-phosphatase E (Inpp5e) develop a multiorgan disorder with defects in primary cilia. They also report a mutation in human INPP5E in a family with MORM syndrome, a condition similar to Bardet-Biedl syndrome.
Konrad Hochedlinger and colleagues show that hematopoietic stem and progenitor cells give rise to induced pluripotent stem cells 300 times more efficiently than terminally differentiated B and T lymphocytes, yielding reprogramming efficiencies of up to 27%. These findings identify adult hematopoietic progenitors as an attractive cell type for applications of iPS technology in research and therapy.
Xifeng Wu and colleagues show that a common variant in the prostate stem cell antigen (PSCA) gene on 8q24 is associated with susceptibility to urinary bladder cancer. The risk allele truncates the amino terminus of the PSCA gene product and reduces PSCA promoter activity in bladder cancer cell lines.
Stephen Chanock and colleagues report a genome-wide association study of pancreatic cancer. They identify common variants at the ABO blood group locus associated with susceptibility to pancreatic cancer, consistent with previous epidemiological evidence suggesting that individuals with A or B blood types have greater risk of this cancer than individuals with blood type O.
Paul Pharoah and colleagues report results of the first genome-wide association study for epithelial ovarian cancer. They identify a susceptibility locus on chromosome 9p22.