title: Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
abstract: Members of the Sox gene family encode transcription factors that have diverse and important functions during development. We have recently described the cloning of chick and mouse Sox14 and the expression of these genes in a population of ventral interneurons in the embryonic spinal cord. We report here the cloning and sequencing of the human orthologue of Sox14. 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. Using radiation hybrid mapping and fluorescence in situ hybridisation, we have localised SOX14 close to the sequence tagged site D3S1576 on human chromosome 3q23. Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2). We have found that SOX14 is unlikely to be involved in any of these disorders because of the position of SOX14 proximal to a BPES breakpoint and the lack of SOX14 coding region alterations in BPES, CMT2B and MBS2 patients.
authors.affiliation: Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Hargrave
authors.forename: K
authors.initials: K
authors.lastname: James
authors.forename: K
authors.initials: K
authors.lastname: Nield
authors.forename: C
authors.initials: C
authors.lastname: Toomes
authors.forename: K
authors.initials: K
authors.lastname: Georgas
authors.forename: T
authors.initials: T
authors.lastname: Sullivan
authors.forename: H T
authors.initials: HT
authors.lastname: Verzijl
authors.forename: C A
authors.initials: CA
authors.lastname: Oley
authors.forename: M
authors.initials: M
authors.lastname: Little
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: J M
authors.initials: JM
authors.lastname: Kwon
authors.forename: H
authors.initials: H
authors.lastname: Kremer
authors.forename: M J
authors.initials: MJ
authors.lastname: Dixon
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: P
authors.initials: P
authors.lastname: Koopman
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D016569:Blepharophimosis / Q000235:genetics; D001763:Blepharoptosis / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002642:Chick Embryo; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005124:Eye Abnormalities / Q000235:genetics*; D005820:Genetic Testing; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D020331:Mobius Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D055749:SOXB2 Transcription Factors; D017386:Sequence Homology, Amino Acid
chemical_list: D006609:High Mobility Group Proteins; C117478:SOX14 protein, human; D055749:SOXB2 Transcription Factors; C492175:Sox14 protein, mouse