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

Howard Sirotkin, Bernice Morrow, Bruno Saint-Jore, Anne Puech, Ruchira Das Gupta, Sankhavaram R. Patanjali, Arthur Skoultchi, Sherman M. Weissman, Raju Kucherlapati

Research output: Contribution to journalArticle

85 Scopus citations

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 8085% 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.

Original languageEnglish (US)
Pages (from-to)245-251
Number of pages7
JournalGenomics
Volume42
Issue number2
DOIs
StatePublished - Jun 1 1997

ASJC Scopus subject areas

  • Genetics

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