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This Week in PLOS: Jan 21, 2013

This post has been updated to fix the spelling of Molly McCue's surname.

Children's Hospital of Philadelphia's Hakon Hakonarson and colleagues report in PLOS One that they have linked a number of copy-number variants to autism spectrum disorders. Using the Affymetrix genome-wide human SNP array 6.0, the researchers examined CNVs in 55 people with autism who are members of families with multiple cases of autism-spectrum disorders. Additionally, the researchers looked into previously published CNVs linked to autism. In all, "our data demonstrate that CNVs identified in high-risk ASD families play a role in the etiology of ASD in unrelated cases. Evaluation of these CNVs in the large sample set used in this study provides compelling evidence for extremely rare recurrent CNVs as well as additional common variants in the genetics of ASD," the researchers write. "We suggest that the CNVs described here likely have a strong impact on the development of ASD."

Our sister publication GenomeWeb Daily News has more on the study, here.

Researchers led by Molly McCue report in PLOS Genetics that their genome-wide analysis of 774 horses from 33 breeds indicates that gene variants for traits such as muscle fiber type were under intense selection during horse breeding. The researchers genotyped the horses using Illuimina's Equine SNP50 Beadchip, finding that in the quarter and paint horse, ECA18, in which the myostatin gene MSTN is located, had the highest signature of selection. From histological and sequencing analysis of muscle biopsies from the horses, the researchers report that a promoter variant and a MSTN SNP are associated with a certain proportion of muscle fibers. Additionally, a selection signature on ECA23 led the researchers to find that variants in the transcription factor genes DMRT2 and DMRT3 are linked to alternative gaits in horses. Finally, McCure and her colleagues also identified loci in ECA11 that may be linked to size.

In PLOS Neglected Tropical Diseases, a French team led by investigators at the University Hospital Institute for Infectious Disease and Tropical Medicine report on efforts to characterize Chikungunya fever samples collected in Reunion Island. The research team followed 54 patients and 22 controls for 300 days, collecting clinical and biological data. The disease, the group reports, falls into two stages: day one through day four are marked by acute febrile polyarthralgic syndrome, followed by improvement, and day 5 though day 14 is a convalescent stage during which patients improve, though more slowly. Further, using RT-PCR analysis of the viral samples, the research team notes that the genetic diversity of the virus within the host increases over time, and that an increase in viral complexity is associated with increased joint pain and worse sequelae at the end of their study period. "This may indicate that the immunological processes associated with the initial viraemia decline or are partly circumvented, thus enhancing the opportunity for onset of virus persistence and long term clinical complications," the group adds.