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https://hdl.handle.net/2440/6912
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dc.contributor.author | Tiller, G. | - |
dc.contributor.author | Hannig, V. | - |
dc.contributor.author | Dozier, D. | - |
dc.contributor.author | Carrel, L. | - |
dc.contributor.author | Trevarthen, K. | - |
dc.contributor.author | Wilcox, W. | - |
dc.contributor.author | Mundlos, S. | - |
dc.contributor.author | Haines, J. | - |
dc.contributor.author | Gedeon, A. | - |
dc.contributor.author | Gecz, J. | - |
dc.date.issued | 2001 | - |
dc.identifier.citation | American Journal of Human Genetics, 2001; 68(6):1398-1407 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.issn | 1537-6605 | - |
dc.identifier.uri | http://hdl.handle.net/2440/6912 | - |
dc.description.abstract | Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms have been described. Elsewhere, we have reported the identification of the gene for the X-linked recessive form, which maps to Xp22.2. We now report characterization of an exon-skipping mutation (IVS3+5G-->A at the intron 3 splice-donor site) in two unrelated families with SEDL. Using reverse transcriptase (RT)-PCR, we demonstrated that the mutation resulted in elimination of the first 31 codons of the open reading frame. The mutation was not detected in 120 control X chromosomes. Articular cartilage from an adult who had SEDL and carried this mutation contained chondrocytes with abundant Golgi complexes and dilated rough endoplasmic reticulum (ER). RT-PCR experiments using mouse/human cell hybrids revealed that the SEDL gene escapes X inactivation. Homologues of the SEDL gene include a transcribed retropseudogene on chromosome 19, as well as expressed genes in mouse, rat, Drosophila melanogaster Caenorhabditis elegans, and Saccharomyces cerevisiae. The latter homologue, p20, has a putative role in vesicular transport from ER to Golgi complex. These data suggest that SEDL mutations may perturb an intracellular pathway that is important for cartilage homeostasis. | - |
dc.description.statementofresponsibility | Tiller, George E. ; Hannig, Vickie L. ; Dozier, Damon ; Carrel, Laura ; Trevarthen, Karrie C. ; Wilcox, William R. ; Mundlos, Stefan ; Haines, Jonathan L. ; Gedeon, Agi K. ; Gecz, Jozef | - |
dc.language.iso | en | - |
dc.publisher | Univ Chicago Press | - |
dc.source.uri | http://dx.doi.org/10.1086/320594 | - |
dc.subject | Cartilage | - |
dc.subject | Cells, Cultured | - |
dc.subject | Hybrid Cells | - |
dc.subject | X Chromosome | - |
dc.subject | Endoplasmic Reticulum, Rough | - |
dc.subject | Golgi Apparatus | - |
dc.subject | Chondrocytes | - |
dc.subject | Animals | - |
dc.subject | Humans | - |
dc.subject | Osteochondrodysplasias | - |
dc.subject | Carrier Proteins | - |
dc.subject | Membrane Transport Proteins | - |
dc.subject | Transcription Factors | - |
dc.subject | RNA, Messenger | - |
dc.subject | RNA Splice Sites | - |
dc.subject | Pedigree | - |
dc.subject | DNA Mutational Analysis | - |
dc.subject | RNA Splicing | - |
dc.subject | Base Sequence | - |
dc.subject | Consensus Sequence | - |
dc.subject | Protein Transport | - |
dc.subject | Phenotype | - |
dc.subject | Mutation | - |
dc.subject | Exons | - |
dc.subject | Molecular Sequence Data | - |
dc.subject | Adult | - |
dc.subject | Middle Aged | - |
dc.subject | Dosage Compensation, Genetic | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Genetic Linkage | - |
dc.title | A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1086/320594 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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