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Human Molecular Genetics Advance Access originally published online on April 28, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 12 1213-1218
DOI: 10.1093/hmg/ddh141
Human Molecular Genetics, Vol. 13, No. 12 © Oxford University Press 2004; all rights reserved

Long-range activation of Sox9 in Odd Sex (Ods) mice

Yangjun Qin1, Ling-kun Kong2, Christophe Poirier1, Cavatina Truong1, Paul A. Overbeek2 and Colin E. Bishop1,3,*

1Department of Obstetrics and Gynecology, 2Department of Molecular and Cellular Biology and 3Department of Molecular and Human Genetics, Baylor College of Medicine, 6550 Fannin Street, Houston, TX 77030, USA

Received January 16, 2004; Accepted April 15, 2004

The Odd Sex mouse mutation arose in a transgenic line of mice carrying a tyrosinase minigene driven by the dopachrome tautomerase (Dct) promoter region. The minigene integrated 0.98 Mb upstream of Sox9 and was accompanied by a deletion of 134 kb. This mutation causes female to male sex reversal in XX Ods/+ mice, and a characteristic eye phenotype of microphthalmia with cataracts in all mice carrying the transgene. Ods causes sex reversal in the absence of Sry by upregulating Sox9 expression and maintaining a male pattern of Sox9 expression in XX Ods/+ embryonic gonads. This expression, which begins at E11.5, triggers downstream events leading to the formation of a testis. We report here that the 134 kb deletion, in itself, is insufficient to cause sex reversal. We demonstrate that in Ods, the Dct promoter is capable of acting over a distance of 1 Mb to induce inappropriate expression of Sox9 in the retinal pigmented epithelium of the eye, causing the observed microphthalmia. In addition, it induces Sox9 expression in the melanocytes where it causes pigmentation defects. We propose that Ods sex reversal is due to the Dct promoter element interacting with gonad-specific enhancer elements to produce the observed male pattern expression of Sox9 in the embryonic gonads.

* To whom correspondence should be addressed. Tel: +1 7137988221; Fax: +1 7137985074; Email: bishop{at}bcm.tmc.edu


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