X-linked sex-reversing genes

Wachtel, Stephen S.

doi:10.1159/000014984

“…Duplication of the DSS (dosage-sensitive sex reversal) gene at Xp21.3, causes female development in XY fetuses with an intact SRY gene [Bardoni et al, 1994;Wachtel, 1998] Although the precise sexreversing lesion is not identified in the XY woman that we tested, it is clear that the SRY gene is present in her cells and that it is Y-situated. Further study with the PRINS method might help us to determine whether DSS is duplicated in this patient.…”

Section: Discussionmentioning

confidence: 93%

Localization of SRY by primed in situ labeling in XX and XY sex reversal

Kadandale

¹

,

Wachtel

²

,

Tunca

³

et al. 2000

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Primed in situ labeling (PRINS) can be used to localize DNA segments too small to be detected by fluorescence in situ hybridization. By PRINS we identified the SRY gene in two XX males, a woman with XY gonadal dysgenesis, and an azoospermic male with Xp-Yp interchange. Because PRINS has been used generally in the study of repetitive sequences, we modified the technique for study of the single copy 2. 1-kb SRY sequence. SRY signals were identified at band Yp11.31p11.32 in normal XY males and in the woman with XY gonadal dysgenesis. SRY signals were identified on Xp22 in one XX male but not in the other. They were identified in the corresponding region (Xp22) of the der(X) in the azoospermic male with Xp-Yp interchange. SRY signals were not observed in normal XX females. Presence of SRY in DNA samples from the various subjects was confirmed by polymerase chain reaction. We conclude that PRINS is ideal for rapid localization of single copy genes and small DNA segments in general.

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“…In the Scandinavian wood lemming (Myopus schisticolor), a great excess of females (four females to one male) arises on the basis of an X-linked gene that suppresses the action of the X-linked testis-determining gene, producing fertile XY females mating with XY males [Wachtel, 1998]. The 50% expected zygotic lethality due to heterogamety of both sexes is avoided through a cumbersome mechanism of mosaicism, with males beginning life XY, but then loosing the X preferentially in the male germ line so that all females begin life as XO.…”

Section: Sex Determinationmentioning

confidence: 99%

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

Neri¹,

Opitz²

1999

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The term sex determination refers to the genetic events that bring about male or female gonadal development; sex differentiation to all subsequent morphogenetic and physiological events that establish functional sexuality, sexual dimorphism and the secondary sexual characteristics. Virtually all of the steps of sex differentiation are under genetic control; consequently each one of them can fail as result of mutation of the corresponding genes. We shall be concerned with those genes and their mutations that cause pseudohermaphroditism in males and more rarely in females (with the exception of congenital adrenal hyperplasia). Special emphasis will be placed on Swyer, Denys-Drash, RSH, GBBB, campomelic and ATR-X syndromes, whose genes were recently identified.

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“…During oogenesis, nondisjunction restores two Xs. In the Scandinavian wood lemming (Myopus schisticolor), a great excess of females (four females to one male) arises on the basis of an X-linked gene that suppresses the action of the X-linked testis-determining gene, producing fertile XY females mating with XY males [Wachtel, 1998]. In this species the hazard of zygotic lethality is avoided by eliminating the Y from the female germ line and reconstituting an XX chromosome constitution by nondisjunction.…”

Section: Sex Determinationmentioning

confidence: 99%

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

Neri

¹

,

Opitz²

1999

View full text Add to dashboard Cite

The term sex determination refers to the genetic events that bring about male or female gonadal development; sex differentiation to all subsequent morphogenetic and physiological events that establish functional sexuality, sexual dimorphism and the secondary sexual characteristics. Virtually all of the steps of sex differentiation are under genetic control; consequently each one of them can fail as result of mutation of the corresponding genes. We shall be concerned with those genes and their mutations that cause pseudohermaphroditism in males and more rarely in females (with the exception of congenital adrenal hyperplasia). Special emphasis will be placed on Swyer, Denys-Drash, RSH, GBBB, campomelic and ATR-X syndromes, whose genes were recently identified.

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X-linked sex-reversing genes

Cited by 10 publications

References 20 publications

Localization of SRY by primed in situ labeling in XX and XY sex reversal

Localization of SRY by primed in situ labeling in XX and XY sex reversal

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

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