Journal of Andrology
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Published-Ahead-of-Print July 29, 2010, DOI:10.2164/jandrol.110.010736

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G708E Mutation in the Androgen Receptor Results in Complete Loss of Androgen Function

Singh Rajender *, Singh Pooja , Nalini J Gupta , Baidyanath Chakrabarty , Lalji Singh , and Kumarasamy Thangaraj

* To whom correspondence should be addressed. E-mail: rajender_singh{at}cdri.res.in.

The end organ resistance to the androgens, named as androgen insensitivity syndrome (AIS), is a rare disorder. The most common cause of AIS is mutations(s) in the androgen receptor (AR) gene, however, a significant number of these mutations have not been functionally analyzed. We have, in the present study analyzed a case of complete androgen insensitivity syndrome for mutations in the AR gene. Sequencing of the entire coding region of the AR gene revealed 2650G>A mutation (mRNA sequence reference) in exon 4 of the gene, resulting in replacement of glycine with glutamate at codon 708 in the ligand-binding domain of the AR protein. The mutation was absent in 200 normal male individuals analyzed to look at its occurrence in general population. In vitro androgen binding and transactivation assays showed that the mutation resulted in approximately 65% loss of ligand binding and almost complete loss of transactivation function. CAIS in this individual was due to G708E substitution in the androgen receptor protein.


Key words: Androgen • Hormone • Intersex • Reproductive Genetics • Reproductive Tract






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