Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Henrique Teotónio and colleagues report a comprehensive study of the molecular population genetics of adaptation and reverse evolution in Drosophila. They conclude that adaptive reverse evolution in this context tends to occur from the sorting and recombination of standing genetic variation at multiple loci, rather than from the fixation of new mutations.
James Lupski, Orly Reiner and colleagues report seven individuals with submicroscopic copy number gains in the 17p13.3 region, supported by additional studies in transgenic mice. Duplications overlapping PAFAH1B1 (encoding LIS1) were associated with mild brain structural abnormalities, moderate to severe developmental delay and failure to thrive.
Frank Rutsch and colleagues show that the cblF inborn error of vitamin B12 metabolism, which is characterized by accumulation of free vitamin B12 in lysosomes, is caused by mutations in the gene encoding the lysosomal membrane protein LMBD1. These findings suggest a critical function for LMBD1 in exporting cobalamin from lysosomes.
Steve Younkin and colleagues report the results of a genome-wide association study for late-onset Alzheimer's disease. A variant on the X chromosome in PCDH11X is associated with increased risk of the disorder. PCDH11X encodes a protocadherin and is a member of a cell surface receptor molecule family.
Xue Zhang and colleagues report mutations in an inhibitory upstream open reading frame flanking the human hairless gene in individuals with Marie Unna hereditary hypotrichosis. These mutations result in increased translation of the main physiological hairless ORF, suggesting that fine-tuning of hairless protein levels is important in the control of hair growth.
Timothy Nelson and colleagues present a transcriptome atlas of 40 key cell types from rice (Oryza sativa). The atlas reveals previously unrecognized cellular properties, and should serve as an essential resource for functional genomic analyses of rice and other plants.