Literature DB >> 1570829

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

E Vilain1, K McElreavey, F Jaubert, J P Raymond, F Richaud, M Fellous.   

Abstract

The human Y chromosome encodes a testis-determining factor (TDF) which is responsible for initiating male sex determination. Recently a region of the Y chromosome (SRY) was identified as part of the TDF gene. We have identified a three-generation family (N) in which all XY individuals have a single base-pair substitution resulting in a conservative amino acid change in the conserved domain of the SRY open reading frame. Three individuals are XY sex-reversed females, and two are XY males. Several models are proposed to explain association between a sequence variant in SRY and two sex phenotypes.

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Year:  1992        PMID： 1570829      PMCID： PMC1682588     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

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Journal:  Nature       Date:  1985 Jul 4-10       Impact factor: 49.962

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Review 3.  Genetic control of primary sex determination in mice.

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Authors:  J L Simpson; N Blagowidow; A O Martin
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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Authors:  P Berta; J R Hawkins; A H Sinclair; A Taylor; B L Griffiths; P N Goodfellow; M Fellous
Journal:  Nature       Date:  1990-11-29       Impact factor: 49.962

6.  A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

Authors:  R J Jäger; M Anvret; K Hall; G Scherer
Journal:  Nature       Date:  1990-11-29       Impact factor: 49.962

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

Authors:  D Damiani; A E Billerbeck; A C Goldberg; N Setian; M Fellous; J Kalil
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

8.  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

9.  Identification and cloning of TCF-1, a T lymphocyte-specific transcription factor containing a sequence-specific HMG box.

Authors:  M van de Wetering; M Oosterwegel; D Dooijes; H Clevers
Journal:  EMBO J       Date:  1991-01       Impact factor: 11.598

10.  A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.

Authors:  A H Sinclair; P Berta; M S Palmer; J R Hawkins; B L Griffiths; M J Smith; J W Foster; A M Frischauf; R Lovell-Badge; P N Goodfellow
Journal:  Nature       Date:  1990-07-19       Impact factor: 49.962
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  15 in total

1.  Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.

Authors:  E K Pivnick; S Wachtel; D Woods; J L Simpson; C E Bishop
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.

Authors:  J R Bilbao; L Loridan; L Castaño
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  SRY-negative true hermaphrodites and an XX male in two generations of the same family.

Authors:  E S Ramos; C A Moreira-Filho; Y A Vicente; M A Llorach-Velludo; S Tucci; M H Duarte; A G Araújo; L Martelli
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

4.  Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Authors:  M Schmitt-Ney; H Thiele; P Kaltwasser; B Bardoni; M Cisternino; G Scherer
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

Review 5.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

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Authors:  A Braun; U Kuhnle; H Cleve
Journal:  Naturwissenschaften       Date:  1994-07

7.  Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

Authors:  C Kwok; C Tyler-Smith; B B Mendonca; I Hughes; G D Berkovitz; P N Goodfellow; J R Hawkins
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

8.  Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach.

Authors:  H Su; Y F Lau
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

9.  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

10.  True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.

Authors:  A Braun; S Kammerer; H Cleve; U Löhrs; H P Schwarz; U Kuhnle
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025
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