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Literature DB >> 2921042

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man.

G Scherer¹, W Schempp, C Baccichetti, E Lenzini, F D Bricarelli, L D Carbone, U Wolf.

Abstract

Two 46,XY females with tandem duplications of an X short arm segment were studied by cytogenetic and Southern blot analysis. The results show that the duplicated segment in each case included the Xp21.2-Xp22.2 interval, resulting in a double dose of ZFX on the single active X chromosome. The results from our two cases, in conjunction with those reported by other workers, lead us to conclude that the duplication is the reason for the sex inversion. If ZFY and ZFX are indeed sex-determining gene loci, these findings favour a model of sex determination characterized by antagonistic interaction between these genes.

Entities: Gene Species

Mesh：

Year: 1989 PMID： 2921042 DOI： 10.1007/BF00279008

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

12 in total

1. Mapping the human ZFX locus to Xp21.3 by in situ hybridization.

Authors: G Müller; W Schempp
Journal: Hum Genet Date: 1989-04 Impact factor: 4.132

2. Oligonucleotide hybridization techniques.

Authors: C G Miyada; R B Wallace
Journal: Methods Enzymol Date: 1987 Impact factor: 1.600

3. Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

Authors: N A Affara; M A Ferguson-Smith; R E Magenis; J L Tolmie; E Boyd; A Cooke; D Jamieson; K Kwok; M Mitchell; L Snadden
Journal: Nucleic Acids Res Date: 1987-09-25 Impact factor: 16.971

4. Is ZFY the sex-determining gene on the human Y chromosome?

Authors: D C Page
Journal: Philos Trans R Soc Lond B Biol Sci Date: 1988-12-01 Impact factor: 6.237

5. Gonadal dimorphism explained as a dosage effect of a locus on the sex chromosomes, the gonad-differentiation locus (GDL).

Authors: J German
Journal: Am J Hum Genet Date: 1988-03 Impact factor: 11.025

6. Cytologic evidence for three human X-chromosomal segments escaping inactivation.

Authors: W Schempp; B Meer
Journal: Hum Genet Date: 1983 Impact factor: 4.132

7. Small deletions of the short arm of the Y chromosome in 46,XY females.

Authors: C M Disteche; M Casanova; H Saal; C Friedman; V Sybert; J Graham; H Thuline; D C Page; M Fellous
Journal: Proc Natl Acad Sci U S A Date: 1986-10 Impact factor: 11.205

8. DNA sequencing with chain-terminating inhibitors.

Authors: F Sanger; S Nicklen; A R Coulson
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205

9. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.

Authors: E Natt; E M Westphal; S E Toth-Fejel; R E Magenis; N R Buist; R Rettenmeier; G Scherer
Journal: Hum Genet Date: 1987-12 Impact factor: 4.132

10. The sex-determining region of the human Y chromosome encodes a finger protein.

Authors: D C Page; R Mosher; E M Simpson; E M Fisher; G Mardon; J Pollack; B McGillivray; A de la Chapelle; L G Brown
Journal: Cell Date: 1987-12-24 Impact factor: 41.582

25 in total

1. Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.

Authors: P Maraschio; O Zuffardi; A Caiulo; E Dainotti; M Piantanida; H Rivera; R Tupler
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

2. Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

Authors: M Schmidt; D Du Sart; P Kalitsis; M Leversha; S Dale; L Sheffield; D Toniolo
Journal: Hum Genet Date: 1991-03 Impact factor: 4.132

3. Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Authors: T Ogata; J R Hawkins; A Taylor; N Matsuo; J Hata; P N Goodfellow
Journal: J Med Genet Date: 1992-04 Impact factor: 6.318

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man.

1. Mapping the human ZFX locus to Xp21.3 by in situ hybridization.

2. Oligonucleotide hybridization techniques.

3. Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

4. Is ZFY the sex-determining gene on the human Y chromosome?

5. Gonadal dimorphism explained as a dosage effect of a locus on the sex chromosomes, the gonad-differentiation locus (GDL).

6. Cytologic evidence for three human X-chromosomal segments escaping inactivation.

7. Small deletions of the short arm of the Y chromosome in 46,XY females.

8. DNA sequencing with chain-terminating inhibitors.

9. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.

10. The sex-determining region of the human Y chromosome encodes a finger protein.

1. Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.

2. Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

3. Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

4. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

5. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

6. Molecular analysis of aberrations of Xp and Yq.

7. Partial disomy of Xp and the presence of SRY in a phenotypic female.

Review 8. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

9. Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome.

Review 10. Abnormalities of human sex determination.