Sunday, July 29, 2012

Blogging the Human Genome

In the middle of chromosome 10 sits the ercc6 gene, which plays various roles in basic cell processes like DNA repair. When ercc6 fails, you get Cockayne syndrome, which leads to a stunted frame, accelerated aging, tiny-headedness (microcephaly), extreme sensitivity to sunlight (even a few minutes outdoors can sear the skin), and in some cases, mental handicaps. This devastating disorder is recessive, thankfully?you need two bum copies of ercc6 to get Cockayne. Well, James Watson?s published DNA sequence says he has two bum copies. Yet he?s neither dwarfish, nor mentally deficient, nor microcephalic, and although he has aged lately, it?s nothing abnormal for an 84-year-old. Watson also supposedly has two recessive mutations that should have disabled a gene on chromosome 11, giving him Usher syndrome, which causes a Helen Keller?like deafness-blindness double whammy. If you haven?t guessed, Watson is neither deaf nor blind.

Source: http://feeds.slate.com/click.phdo?i=027750b5d0cea1177aa3f8f60a2bacfd

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