Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases
Copyright policy )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 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.
- University of Salford United Kingdom
- Washington State University United States
- University of Antwerp Belgium
- University of Mary United States
- University of Queensland Australia
572, Clinical description and delineation of genetic syndromes, Molecular Sequence Data, Chick Embryo, Blepharophimosis, Mice, C1, Charcot-Marie-Tooth Disease, Chromosome 3q23, Genetische en metabole aspecten van neuromusculaire aandoeningen, 270299 Genetics not elsewhere classified, Animals, Blepharoptosis, Humans, Amino Acid Sequence, Eye Abnormalities, Genetic Testing, Klinische beschrijving en moleculaire definiëring van genetische syndromen, In Situ Hybridization, Fluorescence, Mobius-syndrome, Dutch Family, Genetical and metabolic aspects of neuromuscular diseases, Sequence Homology, Amino Acid, 780105 Biological sciences, Campomelic Dysplasia, High Mobility Group Proteins, Autosomal Sex Reversal, Chromosome Mapping, Candidate Genes, Epicanthus Inversus Syndrome, Mobius Syndrome, Mutation, SOXB2 Transcription Factors, Linkage Analysis, Chromosomes, Human, Pair 3, Sry-related Gene
572, Clinical description and delineation of genetic syndromes, Molecular Sequence Data, Chick Embryo, Blepharophimosis, Mice, C1, Charcot-Marie-Tooth Disease, Chromosome 3q23, Genetische en metabole aspecten van neuromusculaire aandoeningen, 270299 Genetics not elsewhere classified, Animals, Blepharoptosis, Humans, Amino Acid Sequence, Eye Abnormalities, Genetic Testing, Klinische beschrijving en moleculaire definiëring van genetische syndromen, In Situ Hybridization, Fluorescence, Mobius-syndrome, Dutch Family, Genetical and metabolic aspects of neuromuscular diseases, Sequence Homology, Amino Acid, 780105 Biological sciences, Campomelic Dysplasia, High Mobility Group Proteins, Autosomal Sex Reversal, Chromosome Mapping, Candidate Genes, Epicanthus Inversus Syndrome, Mobius Syndrome, Mutation, SOXB2 Transcription Factors, Linkage Analysis, Chromosomes, Human, Pair 3, Sry-related Gene
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).20 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!