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

  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},
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… 

SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome

Although SOX14 maps outside these loci for BPES and Möbius syndrome, its expression pattern and chromosomal localisation suggest that it is a candidate gene for the limb defects frequently associated with these syndromes.

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

The cloning and sequencing of the human orthologue of Sox14 is reported, which shows remarkable sequence conservation compared with orthologues from other vertebrate species and probably mirrors the expression of these genes in the developing brain and spinal cord.

Cloning and mapping of platypus SOX2 and SOX14: Insights into SOX group B evolution

A simple model of SOX group B gene evolution is proposed and the sequence similarity and conserved synteny of these group B genes provide clues to their origin.

Comparison of promoter regions of SOX3, SOX14 and SOX18 orthologs in mammals

To better understand organization and function of SOX3, SOX14 and SOX18 promoters and to determine evolutionary conserved regulatory regions, comparative genomic analyses of orthologous genes promoters are performed.

Remarkable evolutionary conservation of SOX14 orthologues

This study has not only supported the proposed model of group B Sox genes evolution in chicken and mammals, but has also revealed that additional evolutionary events split Sox B genes into different chromosomes in some mammals.

Conserved genomic organisation of Group B Sox genes in insects.

The DNA-binding domain sequences and genomic organisation of the group B genes have been conserved over 300 My of evolution since the last common ancestor of the Hymenoptera and the Diptera and a simple model for the evolution of group B Sox genes in insects is suggested that differs from the proposed evolution of vertebrate Group B genes.

Characterization of SoxB2 and SoxC genes in amphioxus (Branchiostoma belcheri): Implications for their evolutionary conservation

Results suggest that amphioxus SoxB2 and SoxC might co-function and have conserved functions in the nervous system and gonads as their vertebrate homologs.

Common binding by redundant group B Sox proteins is evolutionarily conserved in Drosophila

Analysis of the genome-wide binding patterns of Dichaete and SoxNeuro in four species of Drosophila provides insights into the evolution of group B Sox function, highlighting the specific conservation of shared binding sites and suggesting alternative sources of neofunctionalisation between paralogous family members.



A role for SOX1 in neural determination.

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.

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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

It is determined that premature termination of SOX10, a member of the SflV–like HMG box family of transcription factors, is responsible for absence of the neural crest derivatives in Dom mice, andSOX10 is proposed as a candidate disease gene for individuals with HSCR whose disease does not have an identified genetic origin.