Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome
| Autor: | Linda A. Cannizzaro, H. Sirotkin, Ruchira DasGupta, Sherman M. Weissman, Bernice E. Morrow, Rosalie Goldberg, Guangping Shi, Robert J. Shprintzen, Sankhavaram R. Patanjali, Raju Kucherlapati |
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| Rok vydání: | 1996 |
| Předmět: |
Heart Defects
Congenital DNA Complementary Chromosomes Human Pair 22 Molecular Sequence Data Locus (genetics) Polymerase Chain Reaction Clathrin Gene mapping Complementary DNA DiGeorge syndrome Genetics medicine Humans Abnormalities Multiple Amino Acid Sequence Molecular Biology Gene In Situ Hybridization Fluorescence Genetics (clinical) Base Sequence biology Muscles Chromosome Mapping Gene Expression Regulation Developmental General Medicine Blotting Northern medicine.disease Phenotype Blotting Southern Clathrin Heavy Chains Face biology.protein Autoradiography Pharynx Chromosome 22 |
| Zdroj: | Human Molecular Genetics. 5:617-624 |
| ISSN: | 1460-2083 |
| Popis: | Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, conotruncal heart defects and facial dysmorphology among others. Eighty to eighty-five percent of VCFS/DGS patients are hemizygous for a portion of chromosome 22. It is likely that the genes encoded by this region play a role in the etiology of the phenotypes associated with the disorders. Using a cDNA selection protocol, we isolated a novel clathrin heavy chain cDNA (CLTD) from the VCFS/DGS minimally deleted interval. The cDNA encodes a protein of 1638 amino acids. CLTD shares significant homology, but is not identical to the ubiquitously expressed clathrin heavy chain gene. The CLTD gene also shows a unique pattern of expression, having its maximal level of expression in skeletal muscle. Velopharyngeal insufficiency and muscle weakness are common features of VCFS patients. Based on the location and expression pattern of CLTD, we suggest hemizygosity at this locus may play a role in the etiology of one of the VCFS-associated phenotypes. |
| Databáze: | OpenAIRE |
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