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

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...

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Bibliographic Details
Published in:Human genetics 2000-04, Vol.106 (4), p.432-439
Main Authors: HARGRAVE, M, JAMES, K, KWON, J. M, KREMER, H, DIXON, M. J, TIMMERMAN, V, YAMADA, T, KOOPMAN, P, NIELD, K, TOOMES, C, GEORGAS, K, SULLIVAN, T, VERZIJL, H. T. F. M, OLEY, C. A, LITTLE, M, DE JONGHE, P
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Biological and medical sciences
Blepharophimosis - genetics
Blepharoptosis - genetics
Charcot-Marie-Tooth Disease - genetics
Chick Embryo
Chromosome Mapping
Chromosomes, Human, Pair 3
Classical genetics, quantitative genetics, hybrids
Eye Abnormalities - genetics
Fundamental and applied biological sciences. Psychology
Genetic Testing
Genetics of eukaryotes. Biological and molecular evolution
High Mobility Group Proteins - genetics
Human
Humans
In Situ Hybridization, Fluorescence
Mice
Mobius Syndrome - genetics
Molecular Sequence Data
Mutation
Sequence Homology, Amino Acid
SOXB2 Transcription Factors
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390000266