KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
A Brainy Map
September 03, 2010
In Scientific American Mind, Allan Jones and Caroline Overly discuss the Allen Human Brain Atlas, which was launched in May. This "online interactive atlas of the human brain showing the activity of the more than 20,000 human genes" Jones and Overly say will allow researchers to "quickly determine where in the brain genes that encode specific proteins are active, including proteins that are likely to be affected by a new drug." They add that the atlas will expand over the coming years to include data from more brains, including gene expression data for certain brain regions, and will have improve search and visualization capabilities. "Perhaps someday these tools may give us a handle on more fundamental and long-standing curiosities such as: How do we think and feel? What is consciousness? And what makes us human?" they write.