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Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal

Nature Genetics volume 6, pages 245–250 (1994)Cite this article

Abstract

Breeding the Y chromosome from certain Mus musculus domesticus strains onto the inbred laboratory mouse strain, C57BL/6J (B6), results in hermaphroditic progeny. This strain–dependent sex reversal suggests that there may be significant allelic variation in the murine sex determining gene, Sry. We have analysed the Sry genes from several domesttcus–type Y chromosomes and show that they encode smaller proteins than the molossinus–type alleles SryB6 and Sry129. We have also identified a polymorphic stretch of trinucleotide repeats that is unique to strains causing sex reversal and show that specific changes in the predicted polyglutamine amino acid sequence at this site are associated with different degrees of sex reversal.

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Author information

Author notes

  1. Kozo Nagai

    Present address: Department of Biochemistry, Tokyo Medical College, Shinjuku-Ru, Tokyo, 160, Japan

Authors and Affiliations

  1. Division of Cell and Developmental Genetics, Department of Medicine, VA Medical Center, University of California, San Francisco, California, 94121, USA

    Peter Coward, Kozo Nagai, Degao Chen & Yun-Fai Chris Lau

  2. Department of Cell Biology, Vanderbilt University, Nashville, Tennessee, 37232, USA

    Harrison D. Thomas & Claude M. Nagamine

Authors
  1. Peter Coward
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  2. Kozo Nagai
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  3. Degao Chen
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  4. Harrison D. Thomas
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  5. Claude M. Nagamine
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  6. Yun-Fai Chris Lau
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Coward, P., Nagai, K., Chen, D. et al. Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal. Nat Genet 6, 245–250 (1994). https://doi.org/10.1038/ng0394-245

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