Articles in 2010

Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.

Michel Georges and colleagues identify a founder mutation in CCDC39 associated with primary ciliary dyskinesia in Old English Sheepdogs. They further show that mutations in human CCDC39 cause a similar phenotype and that CCDC39 is required for the assembly of inner dynein arms and the dynein regulatory complex.

Paul Brennan, Stephen Chanock and colleagues performed a genome-wide association study for renal carcinoma. They identified two genetic susceptibility loci.

Rebecca Burdine and colleagues show that CCDC40 is required for motile cilia function and correct left-right patterning in mouse, zebrafish and humans. Their findings highlight an essential role for CCDC40 in the assembly of inner dynein arms and dynein regulatory complexes.

Loes van der Zanden and colleagues report results of a genome-wide association study of hypospadias, a common congenital malformation of the male external genitalia. They show that variants in DGKK on the X chromosome are associated with substantially elevated risk of this disorder.

Yoshiya Kawaguchi and colleagues show that a Sox9-positive progenitor pool located in the epithelia of the biliary and pancreatic ducts of adult mice serves as a continuous source of intestinal cells, hepatocytes and pancreatic acinar cells, identifying a shared pathway underlying the cellular renewal of these adult endodermal organs.

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.

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.

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.

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.

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.

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.

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.

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.

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.