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Understanding missense mutations in the BRCA1 gene: an evolutionary approach.

Abstract：

:The role of missense changes in BRCA1 in breast cancer susceptibility has been difficult to establish. We used comparative evolutionary methods to identify potential functionally important amino acid sites in exon 11 and missense changes likely to disrupt gene function, aligning sequences from 57 eutherian mammals and categorizing amino acid sites by degree of conservation. We used Bayesian phylogenetic analyses to determine relationships among orthologs and identify codons evolving under positive selection. Most conserved residues occur in a region with the highest concentration of protein-interacting domains. Rapidly evolving residues are concentrated in the RAD51-interacting domain, suggesting that selection is acting most strongly on the role of BRCA1 in DNA repair. Investigation of the functional role of missense changes in breast-cancer susceptibility should focus on 38 missense changes in conserved and 3 in rapidly evolving regions of exon 11.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Fleming MA,Potter JD,Ramirez CJ,Ostrander GK,Ostrander EA

doi

10.1073/pnas.0237285100

keywords:

subject

Has Abstract

pub_date

2003-02-04 00:00:00

pages

1151-6

issue

3

eissn

0027-8424

issn

1091-6490

pii

0237285100

journal_volume

100

pub_type

杂志文章

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