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This version published online on July 25, 2006
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2006-0950
A more recent version of this article appeared on October 1, 2006
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Submitted on May 4, 2006
Accepted on July 19, 2006

A novel human sex-determining gene linked to Xp11.21-11.23

Singh Rajender, Kumarasamy Thangaraj*, Nalini J. Gupta, N. Leelavathy, Deepa Selvi Rani, Renjini G. Nambiar, Vadivelu Kalavathy, Sathiyavedu T. Santhiya, Sayee Rajangam, Puthiya M. Gopinath, Baidyanath Chakravarty, and Lalji Singh

Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, India (SR, KT, DSR, LS); Institute of Reproductive Medicine, Salt Lake, Kolkata, India (NJG, BC); Division of Human Genetics, St. John's Medical College, Bangalore, India (NL, SR); Department of Genetics, Postgraduate Institute of Basic Medical Sciences, University of Madras, Chennai, India (RGN, VK, STS, PMG,); KMC Life Science Centre, Manipal Academy of Higher Education, Manipal, India (PMG)

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

Context: The molecular basis for about 70-80% of 46, XY sex-reversed females remains unexplained, since they carry normal copies of the genes (SRY, SOX9, DAX1, DMRT, SF1, WT1) involved in sex determination pathway.

Objective: To map the chromosomal locus responsible for an unexplained sex-reversed phenotype.

Design: Genome-wide scan using families with multiple sex-reversed individuals.

Setting: The patients were selected from different hospitals/reproductive Centers along with the family members.

Participants: Sex-reversed individuals along with their sibs and parents.

Main outcome measure: Identification of the chromosomal locus responsible for sex reversal in these families and sequence analysis of candidate genes.

Results: Parametric linkage analysis revealed a maximum two-point LOD score of 5.70 with marker DXS991 (Xp11.21) and 4.57 with marker DXS1039 (Xp11.23-Xp11.22), and a multi-point LOD score of 5.77 with marker DXS991 and 5.22 with marker DXS1039. The two markers (DXS991 and DXS1039) with highest LOD score span approximately 3.41cM (75.79 - 79.2 cM) on the short arm of the X-chromosome.

Conclusion: Our findings provide evidence for a major susceptibility locus for sex reversal/gonadal dysgenesis on the short arm of the X-chromosome (Xp11.21-11.23). Further molecular exploration of the expression of candidate genes in the embryonic gonad/gonadal ridge will help in the identification of the underlying gene for sex-reversal.
Key words: Sex-reversal • Sex-determination • Gonadal-dysgenesis • Genome-wide scan • X-chromosome




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