title: Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome.
abstract: Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Using a cDNA selection protocol, we have identified a new gene, TMVCF (transmembrane protein deleted in VCFS), which maps to the deleted interval. The genomic locus is positioned between polymorphic markers D22S944 and D22S941. TMVCF encodes a small protein of 219 amino acids that is predicted to contain two membrane-spanning domains. TMVCF is expressed abundantly in human adult lung, heart, and skeletal muscle, and transcripts can be detected at least as early as Day 9 of mouse development.
authors.affiliation: Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
authors.forename: H
authors.initials: H
authors.lastname: Sirotkin
authors.forename: B
authors.initials: B
authors.lastname: Morrow
authors.forename: B
authors.initials: B
authors.lastname: Saint-Jore
authors.forename: A
authors.initials: A
authors.lastname: Puech
authors.forename: R
authors.initials: R
authors.lastname: Das Gupta
authors.forename: S R
authors.initials: SR
authors.lastname: Patanjali
authors.forename: A
authors.initials: A
authors.lastname: Skoultchi
authors.forename: S M
authors.initials: SM
authors.lastname: Weissman
authors.forename: R
authors.initials: R
authors.lastname: Kucherlapati
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D062507:Claudin-5; D002972:Cleft Palate / Q000235:genetics; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005314:Embryonic and Fetal Development / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
chemical_list: C107466:CLDN5 protein, human; D062507:Claudin-5; C491511:Cldn5 protein, mouse; D018076:DNA, Complementary; D008565:Membrane Proteins