Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/9499
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Type: Journal article
Title: Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene?
Author: Lower, K.
Kumar, R.
Woollatt, E.
Villard, L.
Gecz, J.
Sutherland, G.
Callen, D.
Citation: Hormone Research, 2004; 62(4):208-214
Publisher: Karger
Issue Date: 2004
ISSN: 0301-0163
1663-2826
Statement of
Responsibility: 
K.M. Lower, R. Kumar, E. Woollatt, L. Villard, J. Gecz, G.R. Sutherland, D.F. Callen
Abstract: BACKGROUND/AIMS: Two half-brothers with similar malformed genitals, who both inherited a maternally derived t(X;5)(q13;p15) translocation, have a phenotype consistent with partial androgen sensitivity syndrome. The aim was to identify the gene disrupted by the X chromosome breakpoint. METHODS: The breakpoint was localized using fluorescence in situ hybridization to metaphase spreads of the translocation. RESULTS: The breakpoint on the X chromosome of the X;5 translocation was localized to a 30-kb region. This region does not contain any identified genes or transcripts. However, the breakpoint is approximately 134 kb from the 5' end of the androgen receptor (AR) gene. CONCLUSIONS: Genetic defects of the AR gene are collectively called androgen insensitivity syndrome and include a range of phenotypes from normal males, often with associated sterility, to XY females. The phenotype seen in the males with the t(X;5) is consistent with this syndrome. The analysis of the chromosomal abnormality suggests that this translocation may remove one or more upstream regulatory elements of the AR gene that are essential for its normal expression and its role in typical external masculinization.
Keywords: Cell Line; Chromosomes, Human, X; Humans; Androgen-Insensitivity Syndrome; Translocation, Genetic; Receptors, Androgen; Immunoblotting; In Situ Hybridization, Fluorescence; Reverse Transcriptase Polymerase Chain Reaction; Pedigree; Gene Silencing; Conserved Sequence; Sequence Homology; Infant, Newborn; Female; Male
Description: © 2004 S. Karger AG, Basel
RMID: 0020040902
DOI: 10.1159/000081064
Appears in Collections:Medicine publications

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