Asp development

Microcephalin and asp! - microcephaly development and progression - Brief Article

"Intrigued by his patients with microcephaly, C. Geoffrey Woods (a clinical geneticist) began studying the DNA of Pakistanis with the condition and their unaffected relatives. He and his colleagues gradually realized that there isn't just 1 gene that causes microcephaly when mutated; there are at least 6 genes. This year, the researchers identified 2 of the genes, including 1 responsible for microcephaly in about half of the nearly 60 Pakistani families studied to date.

These 2 genes, as well as another one studied by Christopher A. Walsh (a Howard Hughes Medical Institute investigator at Harvard Medical School in Boston) and his group, are shedding light on how the cerebral cortex forms ... In work led by Andrew P. Jackson of St. James' University Hospital in Leeds (United Kingdom), the investigators tracked down 1 microcephaly gene by focusing on 2 Pakistani families that had an unusually large number, 7 in total, of members with microcephaly. In the July 2002 issue of the American Journal of Human Genetics, Jackson, Woods, and their colleagues report finding mutations in a novel gene in affected family members but not in unaffected ones. They named the gene microcephalin and, by studying human and mouse fetal tissue, showed that the gene is active in the cerebral cortex as it develops before birth."

Travis J. Science News. 2002(November 16);162:312

Noted by JFL, MD