Literature DB >> 8084357

[Genetics of human sex determination and its disturbances].

A Braun1, U Kuhnle, H Cleve.   

Abstract

The genetics of human sex determination is considered in view of the various disorders of gonad development. The Y chromosome plays an important role in the induction of sex determination by encoding the testis-determining factor (TDF). However, not all deviations in regular development can be explained by mutations of the TDF as unique factor. Therefore, it is necessary to postulate other mutations in still unknown genes of the cascade for male-specific determination as well as the requirement of an ovary-determining factor for regular female development.

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Year:  1994        PMID： 8084357     DOI： 10.1007/s001140050074

Source DB:  PubMed          Journal:  Naturwissenschaften        ISSN： 0028-1042


  63 in total

1.  PCR detection of distal Yp sequences in an XX true hermaphrodite.

Authors:  Y Nakagome; S Seki; K Fukutani; S Nagafuchi; Y Nakahori; T Tamura
Journal:  Am J Med Genet       Date:  1991-10-01

2.  Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.

Authors:  J Müller; M Schwartz; N E Skakkebaek
Journal:  J Clin Endocrinol Metab       Date:  1992-07       Impact factor: 5.958

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

Authors:  E T Pereira; J C de Almeida; A C Gunha; M Patton; R Taylor; S Jeffery
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

4.  Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins.

Authors:  H M Jantzen; A Admon; S P Bell; R Tjian
Journal:  Nature       Date:  1990-04-26       Impact factor: 49.962

5.  A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

Authors:  K McElreavey; E Vilain; N Abbas; I Herskowitz; M Fellous
Journal:  Proc Natl Acad Sci U S A       Date:  1993-04-15       Impact factor: 11.205

Review 6.  True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.

Authors:  G Krob; A Braun; U Kuhnle
Journal:  Eur J Pediatr       Date:  1994-01       Impact factor: 3.183

7.  Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.

Authors:  J Levilliers; B Quack; J Weissenbach; C Petit
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

8.  Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome.

Authors:  E Simpson; P Chandler; E Goulmy; C M Disteche; M A Ferguson-Smith; D C Page
Journal:  Nature       Date:  1987 Apr 30-May 6       Impact factor: 49.962

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

Authors:  N E Abbas; J E Toublanc; C Boucekkine; M Toublanc; N A Affara; J C Job; M Fellous
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

10.  Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region.

Authors:  N M Gough; D P Gearing; N A Nicola; E Baker; M Pritchard; D F Callen; G R Sutherland
Journal:  Nature       Date:  1990-06-21       Impact factor: 49.962
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