Disease relevance of SOX14

• SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome [1].
• Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and Mobius syndrome [1].

High impact information on SOX14

• Using radiation hybrid mapping and fluorescence in situ hybridisation, we have localised SOX14 close to the sequence tagged site D3S1576 on human chromosome 3q23 [2].
• Human SOX14 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 [2].
• SOX14 has been identified from a human genomic library and the mouse and chicken sequences obtained by polymerase chain reaction amplification [1].
• The SOX14 amino acid sequence is highly conserved across these species, suggesting an important role for this protein in vertebrate development [1].
• This location places SOX14 within a chromosome interval associated with two distinct syndromes that affect craniofacial development: Blepharophimosis-ptosis-epicantus inversus syndrome and Möbius syndrome [3].

Biological context of SOX14

• The minimal SOX14 promoter region that confers the basal promoter activity, as well as a proximal enhancer, was determined using promoter-reporter constructs [4].

Anatomical context of SOX14

• SOX14 is expressed in human foetal brain, spinal cord and thymus, and like other members of the B subfamily, it might have a role in regulation of nervous system development [3].

Other interactions of SOX14

• The two SOX B genes SOX2 and SOX14 co-localize to chromosome 3q in humans [5].

References