Article #4: The Mystery of the Bearded Lady

In the 19th century, a Mexican woman named Julia Pastrana amazed many spectators with her unusual appearance at traveling circuses. She danced and sang and was called the “Bearded and Hairy Lady” because she had a rare but highly hereditable disordered called congenital generalized hypertrichosis terminalis (CGHT), also known as "werewolf syndrome". People born with this disorder have straight black hair all over their faces and bodies. Their noses are flat and broad, the heads and jaws were usually larger than normal and their lips were thicker. These traits are similar to traits of Neaderthals but were not considered those species.

There are at least 30 people today living with this disorder in China and 3 families were discovered with CGHT. Sixteen members of the 3 families volunteered to participate in a study to determine the genetic basis of this excessive hair growth disorder. A geneticist name Xue Zhang from the Peking Union Medical College in Beijing compared the DNA of the volunteers with the DNA of 19 members without CGHT. Zhang and his team of researchers were looking for mutations called "copy number variations" in which large chunks of DNA were repeated or removed. They found that the volunteers that had CGHT had the mutation of copy number variations in which DNA was deleted in four genes while the participants without the CGHT had no mutations.

Zhang speculates that the mutations change the local structure of the chromosome, interfering with the production of nearby genes (Thomas, 2009). One nearby gene is the SOX9 protein that stimulates hair growth. CGHT may have possibly altered the region of the chromosome which causes SOX9 protein to overproduce in hair follicle stem cells causing excessive hair growth.

Citation Information
Thomas, Claire. 2009 “Solving the Mystery of the Bearded Lady” ScienceNOW Daily News[Internet] Washington DC and Cambridge, UK: High Wire Press; 2009 [cited 2009 May 21]. Available from http://sciencenow.sciencemag.org/cgi/content/full/2009/521/1