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Dissecting phenotypic variation among AIS patients.

Abstract：

:We have created genital skin fibroblast cell lines directly from three patients in a Chinese family affected by androgen insensitivity syndrome (AIS). All patients in the family share an identical AR Arg840Cys mutant but show different disease phenotypes. By using the cell lines, we find that the mutation has not influenced a normal androgen-binding capacity at 37 degrees C but has reduced the affinity for androgens and may cause thermolability of the androgen-receptor complex. The impaired nuclear trafficking of the androgen receptor in the cell lines is highly correlated with the severity of donors' disease phenotype. The transactivity of the mutant is substantially weakened and the extent of the reduced transactivity reflects severity of the donors' disease symptom. Our data reveal that although etiology of AIS is monogenic and the mutant may alter the major biological functions of its wild allele, the function of the mutant AR can also be influenced by the different genetic backgrounds and thus explains the divergent disease phenotypes.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Wang M,Wang J,Zhang Z,Zhao Z,Zhang R,Hu X,Tan T,Luo S,Luo Z

doi

10.1016/j.bbrc.2005.07.077

subject

Has Abstract

pub_date

2005-09-23 00:00:00

pages

335-42

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(05)01545-7

journal_volume

335

pub_type

杂志文章

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