Literature DB >> 7990924

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

J W Foster1, M A Dominguez-Steglich, S Guioli, C Kwok, P A Weller, M Stevanović, J Weissenbach, S Mansour, I D Young, P N Goodfellow.   

Abstract

Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.

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Year:  1994        PMID: 7990924     DOI: 10.1038/372525a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  382 in total

1.  Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Authors:  D Pfeifer; R Kist; K Dewar; K Devon; E S Lander; B Birren; L Korniszewski; E Back; G Scherer
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.

Authors:  M Patel; K S Dorman; Y H Zhang; B L Huang; A P Arnold; J S Sinsheimer; E Vilain; E R McCabe
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

3.  Maternal-zygotic gene conflict over sex determination: effects of inbreeding.

Authors:  J H Werren; M J Hatcher
Journal:  Genetics       Date:  2000-07       Impact factor: 4.562

4.  Establishment and characterization of immortalized ovine Sertoli cell lines.

Authors:  R A Merhi; L Guillaud; C Delouis; C Cotinot
Journal:  In Vitro Cell Dev Biol Anim       Date:  2001-10       Impact factor: 2.416

5.  Regulation of type-II collagen gene expression during human chondrocyte de-differentiation and recovery of chondrocyte-specific phenotype in culture involves Sry-type high-mobility-group box (SOX) transcription factors.

Authors:  D G Stokes; G Liu; R Dharmavaram; D Hawkins; S Piera-Velazquez; S A Jimenez
Journal:  Biochem J       Date:  2001-12-01       Impact factor: 3.857

6.  Idiopathic weight reduction in mice deficient in the high-mobility-group transcription factor Sox8.

Authors:  E Sock; K Schmidt; I Hermanns-Borgmeyer; M R Bösl; M Wegner
Journal:  Mol Cell Biol       Date:  2001-10       Impact factor: 4.272

7.  Genomic characterization of human DSPG3.

Authors:  M Deere; J L Dieguez; S J Yoon; D Hewett-Emmett; A de la Chapelle; J T Hecht
Journal:  Genome Res       Date:  1999-05       Impact factor: 9.043

8.  THRAP3 interacts with and inhibits the transcriptional activity of SOX9 during chondrogenesis.

Authors:  Takashi Sono; Haruhiko Akiyama; Shigenori Miura; Jian Min Deng; Chisa Shukunami; Yuji Hiraki; Yu Tsushima; Yoshiaki Azuma; Richard R Behringer; Shuichi Matsuda
Journal:  J Bone Miner Metab       Date:  2017-08-02       Impact factor: 2.626

Review 9.  Mutations in the noncoding genome.

Authors:  Cheryl A Scacheri; Peter C Scacheri
Journal:  Curr Opin Pediatr       Date:  2015-12       Impact factor: 2.856

10.  A nuclear export signal within the high mobility group domain regulates the nucleocytoplasmic translocation of SOX9 during sexual determination.

Authors:  Stephan Gasca; Joaquin Canizares; Pascal De Santa Barbara; Catherine Mejean; Francis Poulat; Philippe Berta; Brigitte Boizet-Bonhoure
Journal:  Proc Natl Acad Sci U S A       Date:  2002-08-08       Impact factor: 11.205

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