caa a22 4500 397573391 CHVBK 20180308164847.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.617 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.617 Isolation of a New Clathrin Heavy Chain Gene with Muscle-Specific Expression from the Region Commonly Deleted in Velo-cardio-facial Syndrome [Elektronische Daten] [Howard Sirotkin, Bernice Morrow, Ruchira DasGupta, Rosalie Goldberg, Sankhavaram R. Patanjali, Guangping Shi, Linda Cannizzaro, Robert Shprintzen, Sherman M. Weissman, Raju Kucherlapati] Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velo-pharyngeal 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. © 1996 Oxford University Press Sirotkin Howard Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut Morrow Bernice Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut DasGupta Ruchira Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut Goldberg Rosalie Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, NY, USA aut Patanjali Sankhavaram R. Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06540, USA aut Shi Guangping Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut Cannizzaro Linda Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut Shprintzen Robert Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, NY, USA aut Weissman Sherman M. Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06540, USA aut Kucherlapati Raju Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 617-624 0964-6906 5:5<617 1996 5 hmg https://doi.org/10.1093/hmg/5.5.617 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.617 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sirotkin Howard Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut NATIONALLICENCE 700 1- Morrow Bernice Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut NATIONALLICENCE 700 1- DasGupta Ruchira Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut NATIONALLICENCE 700 1- Goldberg Rosalie Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, NY, USA aut NATIONALLICENCE 700 1- Patanjali Sankhavaram R. Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06540, USA aut NATIONALLICENCE 700 1- Shi Guangping Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut NATIONALLICENCE 700 1- Cannizzaro Linda Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut NATIONALLICENCE 700 1- Shprintzen Robert Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, NY, USA aut NATIONALLICENCE 700 1- Weissman Sherman M. Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06540, USA aut NATIONALLICENCE 700 1- Kucherlapati Raju Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 617-624 0964-6906 5:5<617 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford