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The field of genetics owes its existence and most of its methods to agriculture. This year, genomic strategies and tools have notably begun to pay back the favor. Crop plants may be not only the discipline's most readily translated applications but also its most fruitful model organisms.
A new study shows that somatic cell reprogramming is accompanied by changes in the expression of large intergenic non-coding RNAs (lincRNAs). Some of these reprogramming-induced lincRNAs are directly targeted by key pluripotency factors and regulate reprogramming, implicating lincRNAs in the reinstatement and maintenance of pluripotency.
Exome-based sequencing is a powerful approach for studying rare genetic diseases. A new study now applies this technology to demonstrate an important role for de novo mutations in sporadic mental retardation.
Previous genome-wide association studies have identified a strong association between FTO and human obesity, although the mechanism by which FTO affects obesity remains unknown. A new study suggests that the obesity risk alleles are gain-of-function.
Jianzhi Zhang and Xionglei He report analyses of published RNA sequencing data examining relative expression levels between genes located on the X chromosome and genes located on autosomes. Unlike previous reports of dosage compensation between the X chromosome and autosomes, their analyses detect an X:autosome expression ratio of ∼0.5.
Guillaume Lettre and colleagues report fine-mapping at three loci associated with variation in fetal hemoglobin levels. Their findings implicate multiple common and rare variants at these loci that collectively explain a substantial fraction of the heritable variation in this trait.
Jun Wang and colleagues report whole-genome resequencing of 17 wild and 14 cultivated soybean accessions. They characterize population structure, patterns of linkage disequilibrium and selection in soybeans.
Thomas Brutnell and colleagues report RNA-Seq analysis of the maize leaf transcriptome during stages of leaf development. They identify dynamic changes in gene expression during the progression of leaf development.
Nona Sotoodehnia and colleagues report a meta-analysis of 14 genome-wide association studies for QRS interval, an electrocardiogram measurement of cardiac ventricular conduction. They identify 22 loci associated with QRS duration.
Ken Ong and colleagues report meta-analysis of 32 genome-wide association studies for age at menarche. They identify 30 loci newly associated with age at menarche, including four that were previously associated with BMI.
Genetic variants at the FTO gene are associated with obesity in humans. Now, Roger Cox and colleagues analyze mice globally overexpressing Fto and show that increased Fto expression leads to obesity in mice.
Michael Weber and colleagues present profiles of DNA methylation during early development of the mouse embryonic lineage in vivo. They profile 10% of the mouse genome covering all known gene promoters. They show that DNA methylation is targeted to specific gene promoters and is required to maintain gene repression.
Kamal Chowdhury and colleagues show that the microRNA-212/132 family is necessary for mouse mammary gland development. microRNA-212 and microRNA-132 are required in the mammary stroma, not the epithelium.
Joris Veltman, Han Brunner and colleagues report results of a family based exome sequencing study of ten individuals with unexplained mental retardation. They identified and validated de novo mutations in nine genes, six of which are likely to be pathogenic based on functional criteria, suggesting an important role for de novo point mutations in the etiology of unexplained mental retardation.
George Daley and John Rinn and colleagues identify large intergenic non-coding RNAs that are upregulated during reprogramming of induced pluripotent stem cells, and they show a functional role for large intergenic non-coding RNA-RoR in induced pluripotent stem cell derivation.
Miles Parkes and colleagues report results of a large genome-wide association meta-analysis and replication study for Crohn's disease. They identify 30 new susceptibility loci for this inflammatory bowel disease and implicate several interesting candidate genes in disease pathogenesis.
Richard Houlston and colleagues report results of a genome-wide association study of Hodgkin's lymphoma. They identify three new susceptibility loci at 2p16 (REL), 8q24 and 10p14 (GATA3) and confirm a strong role for the HLA region in disease etiology.
Holger Prokisch and colleagues report whole-exome sequencing of an individual with severe complex I deficiency, followed by screening in an additional 120 cases. They identify mutations in ACAD9 as causal for complex I deficiency.
Matthieu Reymond and colleagues show that natural genetic variants at the SRF3 locus underlie genetic incompatibilities between European and central Asian accessions of Arabidopsis.
Mark Achtman and colleagues report the whole-genome sequencing of 11 Yersinia pestis isolates, the causative agent of the plague. Their phylogeographic analysis on a larger dataset of Y. pestis global isolates suggests historical routes of transmission.