Saturday, April 11, 2009

Overexpression

Overexpression of a structurally normal gene may occasionally
produce an abnormal phenotype. Complete duplication of thePMP22 gene, with an increase in gene product, results in
Charcot–Marie–Tooth disease type 1a. Interestingly, point
mutations in the same gene produce a similar phenotype by
functioning as activating mutations.

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