Characterisation and mapping of the human SOX14 gene

Abstract

SOX genes comprise a family of genes that are related to the mammalian sex determining gene SRY in the region that encodes the HMG-box domain responsible for the sequence-specific DNA-binding activity. SOX genes encode putative transcriptional regulators implicated in the decision of cell fates during development and the control of diverse developmental processes. We have cloned and characterised SOX14, a novel member of the human SOX gene family. Based on the HMG-box sequence, human SOX14 is a member of the B subfamily. 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. While other members of the B subfamily show similarity outside the HMG-box, the regions flanking the HMG box of the human SOX14 gene are unique. SOX14 has been mapped to human chromosome 3q22→ q23, close to the marker D3S1549. 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.

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

“…Both the mouse and chick Sox14 coding regions are encoded by a single exon (Hargrave et al 2000b) and comparison of the human SOX14 coding region with mouse and chick Sox14 cDNA sequence indicates that the human SOX14 coding region is also intronless. This observation is in agreement with the data of Arsic et al (1998) who utilised a reverse transcription/PCR (RT-PCR)-based approach to determine the structure of SOX14. The human SOX14 putative protein, like that in mouse and chick, is 240 amino acid residues in length and contains an N-terminal HMG box and a C-terminus con-434 Fig.…”

“…3). This position is consistent with the position inferred by FISH and other independent investigations of the chromosomal position of SOX14 (Arsic et al 1998;Malas et al 1999). Recently, a 155-kb human genomic sequence from a human male bacterial artificial chromosome (BAC) clone (clone 2_A_4, accession no.…”

“…Human SOX14 has been isolated and mapped to chromosome 3q23 and is expressed in the fetal CNS and a number of adult tissues (Arsic et al 1998;Malas et al 1999). We have confirmed the localisation of SOX14 to human chromosome 3q23 and have been able further to define its position relative to the sequence tagged site (STS) D3S1576.…”

“…A survey of human expressed sequence tag (EST) databases was not informative regarding SOX14 expression sites, because of the lack of SOX14 cDNA clones. However, the high conservation of sequence and expression between vertebrate Sox14 orthologues and the reported expression of human SOX14 in the fetal CNS (Arsic et al 1998;Malas et al 1999), suggests that human SOX14 is expressed in similar cell populations.…”

Isolation and sequencing of seven Sox genes from the lacertid lizard Eremias breuchleyi

“…In our study we found that the seven E. breuchleyi Sox genes did not cluster together but were distributed between the B and C Sox groups. It is known that Sox1, Sox2 and Sox3 are members of the family of HMG DNA-binding domain containing transcription factors related to the testis-determination Sry gene and, along with the recently discovered Sox14 and Sox21 genes, comprise the group B subfamily of Sox genes (Collignon et al, 1996), while the members of group C (Sox4, Sox11, Sox12, Sox22 and Sox24) encode highly conserved N-and C-terminal amino acid sequences (Collignon et al, 1996;Pevny and Lovell-Badge, 1997;Arsic et al, 1998;Rex et al, 1997;Kamachi et al, 1995;Hargrave et al, 2000;Uchikawa et al, 1999). It should be remembered, however, that the PCR primer set used by us may have had a bias leading to preferential amplification of group B and C E. breuchleyi Sox genes.…”