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Human Genetics

, Volume 93, Issue 4, pp 389–393 | Cite as

SRVX, a sex reversing locus in Xp21.2→p22.11

  • Pamela Arn
  • Harold Chen
  • Cathy M. Tuck-Muller
  • Carl Mankinen
  • Gwendolyn Wachtel
  • Shibo Li
  • C. -C. Shen
  • Stephen S. Wachtel
Original Investigations

Abstract

Duplication within Xp21 causes female or intersexual development in human embryos with an XY chromosome complement. We have mapped the responsible gene, SRVX (sex reversal X), in XY-sex-reversed maternal half siblings who had inherited the duplication from their mother. The limited size of the duplication in our cases, relative to its extent in other similar cases, allows assignment of the SRVX locus to Xp21.2→p22.11. We infer that SRVX is part of a pathway of sex-determining genes that includes SRY and SRA1, the latter recently assigned to chromosome 17q. If mutation of SRA1 or SRVX can reverse the sex of the XY fetus, this would explain why mutation within SRY is found only sporadically in women with XY gonadal dysgenesis.

Keywords

Internal Medicine Metabolic Disease Responsible Gene Similar Case Limited Size 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Pamela Arn
    • 1
  • Harold Chen
    • 2
  • Cathy M. Tuck-Muller
    • 2
  • Carl Mankinen
    • 1
  • Gwendolyn Wachtel
    • 3
  • Shibo Li
    • 2
  • C. -C. Shen
    • 2
  • Stephen S. Wachtel
    • 3
  1. 1.Nemours Children's ClinicJacksonvilleUSA
  2. 2.Department of Medical GeneticsUniversity of South AlabamaMobileUSA
  3. 3.Division of Reproductive Genetics, Department of Obstetrics and GynecologyUniversity of TennesseeMemphisUSA

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