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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

descriptionPublicationkeyboard_double_arrow_right Article 01 Jun 1997 English Publisher:Elsevier BVJournal:Genomics, volume 42, pages 245-251 (issn: 0888-7543,

Authors: Raju Kucherlapati; Sherman M. Weissman; Bernice E. Morrow; Anne Puech; Sankhavaram R. Patanjali; Bruno Saint-Jore; H. Sirotkin; +2 Authors

doi: 10.1006/geno.1997.4734

pmid: 9192844

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

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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 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.

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Keywords

Adult, Heart Defects, Congenital, DNA, Complementary, Base Sequence, Sequence Homology, Amino Acid, Chromosomes, Human, Pair 22, Molecular Sequence Data, Chromosome Mapping, Membrane Proteins, Cleft Palate, Embryonic and Fetal Development, Mice, Face, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Claudin-5, Cloning, Molecular, Sequence Deletion

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18 Research products, page 1 of 2

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Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases
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