Epistasis Blog

From the Artificial Intelligence Innovation Lab at Cedars-Sinai Medical Center (www.epistasis.org)

Sunday, August 27, 2006

Epistatic interactions: how strong in disease and evolution?

A new paper to appear in Trends in Genetics looks like it might provide an interesting discussion about epistasis:

Azevedo L, Suriano G, van Asch B, Harding RM, Amorim A. Epistatic interactions: how strong in disease and evolution? Trends Genet. 2006 Aug 12

When the chimpanzee genome sequence was released, human deleterious alleles associated with simple mendelian diseases were observed as wild-type alleles in six genes (AIRE, MKKS, MLH1, MYOC, OTC and PRSS1). The absence of recognizable phenotypic effects in chimpanzee, contrary to the clinical effect observed in humans, is attributed to epistatic interactions (compensation) between potentially deleterious and compensatory alleles. In this report we investigate the possible evolutionary histories by which substitution of alternative variants in these six genes either ameliorates or avoids pathological consequences.


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