Los Angeles, Calif., June 2, 2011Researchers in the Keck School of Medicine of the University of Southern California (USC), together with scientists in Beijing, China, have discovered a chromosomal mutation responsible for a very rare condition in which people grow excess hair all over their bodies. Investigators hope the finding ultimately will lead to new treatments for this and less severe forms of excessive hair growth as well as baldness.
The study, "X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3," will appear in the June 2, 2011 issue of the American Journal of Human Genetics.
Pragna Patel, professor in the Keck School, the USC Institute for Genetic Medicine, and the Herman Ostrow School of Dentistry of USC, is a co-investigator of the study, and Sunju Choi, a research associate in Patel's lab, is a co-first author. The principal investigator is Xue Zhang, professor and chair of medical genetics at the Peking Union Medical College.
The initial discovery of the mutation came from Zhang's lab, which examined the condition, known as CGH, in a Chinese family. Researchers there worked with Choi to confirm the finding in a Mexican family that Patel first began studying in 1993. Males with this disorder have hair covering their entire face including their eyelids and their upper body, while females have thick patches of hair on their bodies.
"In 1995, we traced the approximate location of the mutation responsible for CGH to a section of the X chromosome in the Mexican family," said Patel, whose laboratory focuses on understanding the genetic basis of inherited diseases. "We sequenced nearly 100 genes but could not find any mutations. Then recently, Xue Zhang and his colleagues in Beijing were able to pinpoint the exact location, discovering that there was an insertion of chromosome 5 into the X chromosome in the Chinese fami
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University of Southern California