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Literature DB >> 2227958

A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary.

R J Jäger¹, C Ebensperger, M Fraccaro, G Scherer.

Abstract

Two loci on the short arm of the human Y chromosome have recently been described as candidates for the testis determining factor (TDF); namely, ZFY, and a locus distal to ZFY, near the pseudoautosomal boundary. We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. A reanalysis of these cases shows them all to lack ZFY, but one 46,XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. This case provides further evidence for assigning the TDF locus very close to the pseudoautosomal region on Yp.

Entities: Disease Gene Species

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Year: 1990 PMID： 2227958 DOI： 10.1007/bf00193595

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

24 in total

A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary.

1. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination.

2. Genetic evidence that ZFY is not the testis-determining factor.

3. Duplication, deletion, and polymorphism in the sex-determining region of the mouse Y chromosome.

4. Mammalian sex determination: thumbs down for zinc finger?

5. Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis.

6. A deletion map of the human Y chromosome based on DNA hybridization.

7. Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males.

8. A possible common origin of "Y-negative" human XX males and XX true hermaphrodites.

9. The gonads of human true hermaphrodites.

10. Zfy gene expression patterns are not compatible with a primary role in mouse sex determination.

1. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome.

2. Comparative mapping of ZFY in the hominoid apes.

3. Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation.

Review 4. [Genetics of human sex determination and its disturbances].

Review 5. Sex determination and sex reversal: genotype, phenotype, dogma and semantics.

Review 6. Abnormalities of human sex determination.

7. Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female.

Review 8. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.

9. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.

10. A familial mutation in the testis-determining gene SRY shared by both sexes.