Zhang's team compiled the study by scanning the genomes of 16 people with the disease, along with their unaffected relatives; looking for any differences between the two. During their study, a specific region on chromosome 17 continually jumped out, and after further study, Zhang's team showed that family members with CGHT were missing between 500,000 and 900,000 DNA letters on that chromosome. Patient KK, on the other hand, had 1.4
million extra nucleotides at the same place on the genome.Prior studies however, suggest that the genes in this region have no direct linkage to hair growth. This can be observed in some mice for instance, although lacking the genes, maintain normal hair growth; or with a young girl missing the gene who showed no sign of CGHT. It is thought that most likely, the changes on chromosome 17 affect the expression of distant genes, which in turn causes the excessive hair symptoms common with CGHT sufferers.
With less than 100 documented cases, the disease still remains as one of the last remaining forms of hypertrichosis. Research in the field continues, with the prospect of finding a cause that could not only help CGHT sufferers, but also those with other conditions characterised by excessive hair growth or loss.
Student Name: Christopher Wrona
Student Number: 42067898
Prac: Thursday, P8
References
Original Article
: http://www.newscientist.com/article/dn17176-wolf-man-condition-down-to-huge-dna-malfunction.html
Scientific Journal - Basis for the article
: American Journal of Human Genetics (DOI: 10.1016/j.ajhg.2009.04.018)
Further Reading
http://www.scientificblogging.com/news_articles/congenital_generalized_hypertrichosis_terminalis_why_bearded_lady_was_bearded
KK - World's hairiest man
http://www.youtube.com/watch?v=vCBuaB5On38
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