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Copy number variation has emerged as an important type of genetic risk factor for developmental disorders, including the neurodevelopmental disorders schizophrenia, autism and mental retardation. The highly pleiotropic effects observed for specific copy number variants (CNVs) challenge current classification of these disorders, but also provide opportunities to understand their origins and the relationships between them.
Fat accumulation in the liver is a common trait that may progress to severe liver disease. A new study identifies common and rare nonsynonymous variants in PNPLA3 that are associated with hepatic triglyceride content and that may explain some of the population differences in prevalence.
Embryonic stem (ES) cells undergo rapid cell division without compromising their ability to differentiate into virtually all cell types. Using ES cells deficient for a microRNA biogenesis factor, Dgcr8, a new report uncovers the importance of specific microRNAs in the ES cell cycle transition from G1 to S phase.
A newly described Lgr5-expressing cell population is poised to depose the reigning monarch of the follicular hierarchy, the label-retaining cell, to claim the title as stem cell of the hair follicle.
Two new studies identify PROG1, a gene underlying a quantitative trait locus that regulates rice tiller angle and that has likely been a target for artificial selection during rice domestication. Genetic manipulation of PROG1 has the potential to promote agronomically valuable traits.
A new study identifies the gene that, when mutated, causes autosomal recessive retinitis pigmentosa 25 (arRP25). The RP25 gene encodes an ortholog of Drosophila spacemaker (eyes shut), thus emphasizing common biological functions between Drosophila sensory systems and the human eye.
Two new studies report the results of genome-wide association analysis for androgenetic alopecia. The two major genetic loci identified set the scene for understanding the molecular basis of common male-pattern baldness.
Constitutional epigenetic defects affecting the 11p15.5 imprinted region cause a number of syndromic conditions involving birth defects. Now, an analysis of a large cohort of individuals with nonsyndromic Wilms tumor demonstrates the presence of known and newly identified constitutional IGF2-H19 imprinting defects, extending the phenotype associated with soma-wide 11p15.5 imprinting disorders.
The nematode Pristionchus pacificus associates with one particular beetle and eats its rotting corpse. The report of the genome sequence of P. pacificus, the fifth nematode to be sequenced and a useful secondary nematode genetic model system, highlights genes that may have influenced the route to parasitism.
A new study identifies recessive, loss-of-function mutations in IDH3B, encoding a subunit of the NAD-specific isocitrate dehydrogenase, in individuals with retinitis pigmentosa. The lack of any obvious clinical signs in other tissues in these individuals forces a reassessment of the physiological role of this enzyme outside of the retina.
Mapping by admixture linkage disequilibrium (MALD) leverages differences in disease frequencies among ancestry groups to map disease-susceptibility loci on the basis of genetic admixture. Two new studies use MALD to identify variation at the MYH9 locus as a major factor for the increased risk of nondiabetic kidney disease in African Americans.
Kras, Hras or Nras mutations occur at varying frequencies across different tumors in humans for unknown reasons. A new study shows that, in mice, locus-specific regulatory elements determine whether mutations in Hras or Kras will predominate in lung and skin tumors.
Hedgehog signaling has a key role in hair follicle development, as well as in induction of the most common cancer in individuals of European descent, basal cell carcinoma (BCC). A new study shows that BCCs strongly resemble embryonic hair follicles and that BCC induction requires active Wnt/β-catenin signaling.
Defining the molecular nature of the genetic risk of psychiatric disorders has been notoriously difficult. Now, a flurry of genome-wide association studies for schizophrenia and bipolar disorder provides preliminary evidence for replicated signals.
Recent successes in identifying loci involved in predisposition to type 2 diabetes have been driven by genome-wide association studies in populations of European descent. A new discovery, using samples of East Asian origin, of diabetes susceptibility variants mapping to the KCNQ1 gene highlights the importance of extending these studies to a wider range of populations.
A new study of pigmentation in mice has revealed a surprising link between dark skin and defects in ribosomal proteins. The demonstration that this phenotype is mediated via cell-specific stabilization of p53 suggests insights into the pathogenesis of human diseases such as Diamond-Blackfan anemia caused by similar defects in ribosomal proteins.
Pervasive genome-wide transcription is widespread in eukaryotic cells, but key features of the transcriptome have yet to be fully characterized. A new study using antibody-based detection of RNA-DNA duplexes on tiling arrays now reveals a complex, strand-specific transcriptional world in fission yeast.
The linked maternally expressed H19 and paternally expressed Igf2 genes use a CTCF-dependent DNA methylation–sensitive insulator to govern their allele-specific imprinting patterns. Contrary to expectations, a new study shows that the noncoding H19 RNA has a marsupial ortholog and that key features of the locus are similar, indicating that the imprinting regulation of this locus is conserved among therian mammals.
Developmentally regulated expression of the transcriptional repressor Prdm1 (Blimp1) in the early mammalian embryo controls global epigenetic changes required for specification of primordial germ cells. A new study demonstrates that a close family member, Prdm14, similarly activated in response to Bmp and Smad signals, also has an essential role during establishment of the germ cell lineage.