Articles in 2011

A new study shows that the piRNA-binding protein Piwi interacts with Hsp90 and suppresses phenotypic variation in Drosophila melanogaster by preventing the expression of hidden epigenetic variation. This suggests that Hsp90 and Piwi function are dampened in times of stress to increase genetic and epigenetic variability, providing a last-ditch mechanism for a species to survive.

Two studies illustrate that with the appropriate resources and scale of study, most of the heritability of complex traits in maize is not missing, but can be located within the genome. Given that maize is one of the world's most important crop plants, this has implications for feeding a growing population with minimum carbon footprint as well as for understanding the genetics of complex traits in a range of species.

Phil Beales and colleagues show that mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome, a disorder that includes craniofacial defects, learning disability and other developmental phenotypes. They also present evidence that the COLEC11 gene product serves as a guidance cue for neural crest cell migration.

John Stamatoyannopoulos, Gordon Hager and colleagues report that up to 95% of induced de novo genomic binding by the glucocorticoid receptor is targeted to pre-existing foci of accessible chromatin.

Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases, supporting an oligogenic model of disease.

Antonio Giraldez and colleagues report that miRNA-mediated regulation of the sdf1 chemokine signaling pathway in zebrafish provides genetic robustness to germ cell migration.

Johan P de Winter and colleagues report the identification of mutations in SLX4 in a new Fanconi anemia subtype. SLX4 regulates structure-specific endonucleases, important enzymes in the DNA damage response.

Agata Smogorzewska and colleagues report mutations in SLX4 in a new subtype of Fanconi anemia. SLX4 is an endonuclease involved in DNA maintenance and repair.

Ketan Patel and colleagues report a new mouse model of Fanconi anemia. The authors show that mice deficient in Btbd12, the mouse ortholog of SLX4 (a new Fanconi anemia gene), phenocopy the human disease.

Robbie Waugh and colleagues show that INTERMEDIUM-C, a locus that modifies spikelet fertility in barley, is encoded by an orthologue of the maize domestication gene TEOSINTE BRANCHED 1. Differences in spikelet fertility contributed to barley domestication.

Ed Buckler and colleagues report a genome-wide association study for leaf architecture in the maize nested association mapping population. Genetic variation at the ligueless genes is associated with leaf angle, an important agronomic trait.

James Holland and colleagues report a genome-wide association study for resistance to Southern Leaf Blight (SLB) in the maize nested association mapping population. Linkage mapping identified 32 QTLs linked to SLB resistance, and association tests showed that 51 SNPs, many located within the QTL intervals, are significantly associated with SLB resistance.

Andrea Superti-Furga and colleagues report that mutations in ACP5, which encodes tartrate-resistant phosphatase, cause spondyloenchondrodysplasia, a syndrome of skeletal dysplasia, cerebral calcifications and autoimmunity. The affected individuals had elevated levels of phosphorylated osteopontin.

Aida Bertoli-Avella and colleagues report the identification of SMAD3 mutations in individuals with a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. The mutations cause increased aortic expression of components of the TGF-β signaling pathway.

Yanick Crow and colleagues show that mutations in ACP5, which encodes tartrate-resistant acid phosphatase, cause spondyloenchondrodysplasia, a bone dysplasia with autoimmunity. The affected individuals had elevated serum interferon alpha activity.