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- W2058250597 abstract "The present review article summarizes current knowledge concerning the sex determining gene on Xp21, termed DSS (dosage sensitive sex reversal). The presence of DSS has been based on the finding that, in the presence of SRY, partial active Xp duplications encompassing the middle part of Xp result in sex reversal, whereas those of the distal or proximal part of Xp permit male sex development. Because Klinefelter patients develop as males, it is believed that DSS is normally subject to X-inactivation, and that two active copies of DSS override the function of SRY, resulting in gonadal dysgenesis because of meiotic pairing failure. It may be possible that DSS encodes a target sequence for repressing function of SRY or that DSS is involved in an X chromosome-counting mechanism. Molecular approaches have localized DSS to a 160 kb region and isolated candidate genes such as DAX-1 and MAGE-Xp, but there has been no formal evidence equating the candidate gene with DSS. In addition to its clinical importance, the exploration of DSS must provide a useful clue to phylogenetic studies of sex chromosomes and dosage compensation." @default.
- W2058250597 created "2016-06-24" @default.
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- W2058250597 date "1996-08-01" @default.
- W2058250597 modified "2023-10-10" @default.
- W2058250597 title "Sex determining gene on the X chromosome short arm: Dosage sensitive sex reversal" @default.
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- W2058250597 doi "https://doi.org/10.1111/j.1442-200x.1996.tb03513.x" @default.
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