Dataset Information


46,XY sex reversed females with complete androgen insensitivity syndrome

ABSTRACT: This gene set contains skin fibroblasts from either labia majora of 46,XY sex reversed females having complete androgen insensitivity syndrome due to inactivation mutations of the androgen receptor gene and from the scrotum of normal males. Both, labia majora and scrotum origin from the same embryological anlagen, the labioscrotal swellings. The phenotypic difference is due to androgen dependent virilization in males. This is not possible in 46,XY patients with complete androgen insensitivity syndrome because the androgen receptor pathway is knocked out. A cell type comparison design experiment design type compares cells of different type for example different cell lines. Cell Line: genital skin fibroblasts from different locations mutant line: normal 46,XY male and 46,XY sex reversed female due to inactivating mutations of the androgen receptor gene Computed

ORGANISM(S): Homo sapiens  

SUBMITTER: Paul-Martin Holterhus  

PROVIDER: E-GEOD-6797 | ArrayExpress | 2010-06-25



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Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus Paul-Martin PM   Deppe Uta U   Werner Ralf R   Richter-Unruh Annette A   Bebermeier Jan-Hendrik JH   Wünsch Lutz L   Krege Susanne S   Schweikert Hans-Udo HU   Demeter Janos J   Riepe Felix F   Hiort Olaf O   Brooks James D JD  

BMC Genomics 20071018

To better understand the molecular programs of normal and abnormal genital development, clear-cut definition of androgen-dependent gene expression patterns, without the influence of genotype (46, XX vs. 46, XY), is warranted. Previously, we have identified global gene expression profiles in genital-derived fibroblasts that differ between 46, XY males and 46, XY females with complete androgen insensitivity syndrome (CAIS) due to inactivating mutations of the androgen receptor (AR). While these di  ...[more]

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