The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3

@article{Malas1999TheIA,
  title={The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3},
  author={Stavros Malas and Sarah M. Duthie and Panagiotis Deloukas and Vasso Episkopou},
  journal={Mammalian Genome},
  year={1999},
  volume={10},
  pages={934-937}
}
The SOX family of HMG-type transcription factors were discovered following the isolation of the mammalian sex-determining gene, SRY (Gubbay et al. 1990). The SRY and SOX proteins share a single 79-amino acid DNA-binding domain known as the HMG box, which binds DNA in a sequence-specific manner (reviewed by Pevny and Lovell-Badge 1997). At least 28 SOX genes have been identified in both vertebrates and invertebrates, and several of them have been shown to be associated with a variety of… 

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SOX1, an HMG-box protein related to SRY, is one of the earliest transcription factors to be expressed in ectodermal cells committed to the neural fate: the onset of expression of SOX1 appears to coincide with the induction of neural ectoderm.

Sox genes find their feet.

A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

A gene mapping to the sex-determining region of the mouse Y chromosome is deleted in a line of XY female mice mutant for Tdy, and is expressed at a stage during male gonadal development consistent

Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4

Using targeted genedisruption, it is found that Sox-4−/− embryos succumb to circulatory failure at day E14, a result of impaired development of the endocardial ridges into the semilunar valves and the outlet portion of the muscular ventricular septum.

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

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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It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.

Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice.

It appears that the direct interaction of the SOX1 protein with a promoter element conserved in all gamma-crystallin genes is responsible for their expression.

SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

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