title: Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.
abstract: 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.
authors: Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
authors: H
authors: H
authors: Sirotkin
authors: B
authors: B
authors: Morrow
authors: R
authors: R
authors: DasGupta
authors: R
authors: R
authors: Goldberg
authors: S R
authors: SR
authors: Patanjali
authors: G
authors: G
authors: Shi
authors: L
authors: L
authors: Cannizzaro
authors: R
authors: R
authors: Shprintzen
authors: S M
authors: SM
authors: Weissman
authors: R
authors: R
authors: Kucherlapati
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism; D000595:Amino Acid Sequence; D001345:Autoradiography; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D002966:Clathrin / Q000235:genetics*; D033922:Clathrin Heavy Chains; D018076:DNA, Complementary / Q000032:analysis; D005145:Face / Q000002:abnormalities; D018507:Gene Expression Regulation, Developmental; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism*; D010614:Pharynx / Q000002:abnormalities; D016133:Polymerase Chain Reaction
chemical_list: C101272:CLTCL1 protein, human; D002966:Clathrin; D018076:DNA, Complementary; D033922:Clathrin Heavy Chains