TY - JOUR
T1 - 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
AU - Sirotkin, Howard
AU - Morrow, Bernice
AU - Saint-Jore, Bruno
AU - Puech, Anne
AU - Das Gupta, Ruchira
AU - Patanjali, Sankhavaram R.
AU - Skoultchi, Arthur
AU - Weissman, Sherman M.
AU - Kucherlapati, Raju
N1 - Funding Information:
We acknowledge Christine Carlson and Raj Pandita for helping with the physical mapping and Stephanie Lau and George Grills for assistance with DNA sequencing. This work was supported by NIH Grant HD 31601 (R.K. and S.W.), March of Dimes Grant 5-FY95-0115 (B.M.), a Cancer Center grant (CA13330), and the Human Genetics Program at AECOM. H.S. is supported by NIH Training Grant 5T32GM07128.
PY - 1997/6/1
Y1 - 1997/6/1
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1997.4734
DO - 10.1006/geno.1997.4734
M3 - Article
C2 - 9192844
AN - SCOPUS:0031172452
SN - 0888-7543
VL - 42
SP - 245
EP - 251
JO - Genomics
JF - Genomics
IS - 2
ER -