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

Research output: Contribution to journalArticle

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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

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DiGeorge Syndrome
Membrane Proteins
Genes
Claudin-5
Cleft Palate
Myocardium
Skeletal Muscle
Complementary DNA
Chromosomes
Phenotype
Amino Acids
Lung
Membranes
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

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

In: Genomics, Vol. 42, No. 2, 01.06.1997, p. 245-251.

Research output: Contribution to journalArticle

Sirotkin, Howard ; Morrow, Bernice E. ; Saint-Jore, Bruno ; Puech, Anne ; Das Gupta, Ruchira ; Patanjali, Sankhavaram R. ; Skoultchi, Arthur I. ; Weissman, Sherman M. ; Kucherlapati, Raju. / 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. In: Genomics. 1997 ; Vol. 42, No. 2. pp. 245-251.
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