Saturday, January 22, 2011

Haploinsufficiency

I hope that some of you got to attend Carol Greider's talks on Friday, or the meet and greet on Saturday. I went to the talk on Friday afternoon and was very impressed, not only was the science very impressive (well duh) but she also gave a great talk that I thought was pitched just right for the audience.

She also used a word that I immediately realized I should know and, fortunately, was fairly self explanatory - haploinsufficiency -

Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy of the gene does not produce enough of a gene product to bring about a wild-type condition. Haploinsufficiency is therefore an example of incomplete or partial dominance.
 
Production of telomerase within a cell appears to be an example of haploinsufficiency.

The most interesting part of the talk was at the end when the link between the evolution of insufficient production of telomerase (and therefore diseases of aging) and the dangers of too much telomerase and cancer became clear.

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