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As genome sequencing becomes more versatile and easier, the journal prioritizes those genomic sequences that maximize the prospects of harnessing genome variation and understanding evolutionary processes.
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.
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 new studies show that mutations in tartrate-resistant acid phosphatase (TRAP) cause spondyloenchondrodysplasia, a rare recessive disease associated with short stature, brain calcifications and lupus-like autoimmunity. The complex clinical syndrome is probably mediated by impaired dephosphorylation of osteopontin.
Johan Paulsson and Dann Huh report a mathematical modeling analysis proposing that stochastic partitioning errors during cell division contribute to non-genetic heterogeneity between cells in a population. They find that fluctuations arising from such partitioning errors are difficult to suppress and can mimic noise in gene expression.
Xavier Argout and colleagues report the draft genome of Theobroma cacao, the tropical crop that is the source of chocolate. The sequence assembly covers approximately 80% of the genome.
The International Strawberry Sequencing Consortium reports the draft genome of the woodland strawberry (Fragaria vesca). The genome of this diploid species should serve as a reference genome for the Fragaria genus, as the cultivated strawberry (Fragaria × ananassa) is an octoploid where F. vesca is predicted to be a subgenome donor.
Ewan Pearson and colleagues report a genome-wide association study for glycemic response to metformin in individuals with type 2 diabetes. They identify variants near ATM associated with treatment success.
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.
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.
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.
Haifan Lin and colleagues report the identification in Drosophila of a protein complex composed of Hsp90 Piwi, and the Hsp70/Hsp90 Organizing Protein Homolog (Hop) and demonstrate the function of this complex in buffering against morphological changes in a sensitized background.
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.
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.
