Epistatic interactions: how strong in disease and evolution?

• Type: Article in International Scientific Journal
• Date: 2006

Authors

Luisa Azevedo (Author) Other; Gianpaolo Suriano (Author) Other; Barbara van Asch (Author) Other; Rosalind M Harding (Author) Other; Antonio Amorim (Author) FCUP

Journal

Title: Trends in Genetics

Vol. 22

Pages: 581-585

ISSN: 0168-9525

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 27 Citations

Scopus - 30 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-004-GGB

DOI: 10.1016/j.tig.2006.08.001

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5