TY - JOUR
T1 - Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome
AU - Sirotkin, Howard
AU - O'Donnell, Hilary
AU - DasGupta, Ruchira
AU - Halford, Stephanie
AU - St. Jore, Bruno
AU - Puech, Anne
AU - Parimoo, Satish
AU - Morrow, Bernice
AU - Skoultchi, Arthur
AU - Weissman, Sherman M.
AU - Scambler, Peter
AU - Kucherlapati, Raju
N1 - Funding Information:
We acknowledge Christine Carlson for helping with the physical mapping, Catherine Taylor and George Grills for assistance with DNA sequencing, and Karen Johnstone for supplying the Zoo blot. We thank Rosalie Goldberg and Robert Shprintzen for constant support and discussions. The chromosome 22 cosmid library LL22NCO3 used in this study was constructed at the Biomedical Sciences Division, Lawrence Livermore National Laboratory, under the auspices of the National Gene Library project sponsored by the U.S. Department of Energy. 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, H.O. by the European Union, and S.H. by the MRC.
PY - 1997/4/1
Y1 - 1997/4/1
N2 - Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, cleft palate, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Both syndromes are thought to be the result of a developmental field defect. Using two independent gene isolation procedures, we isolated a new catenin family member termed ARVCF (armadillo repeat gene deleted in VCFS) from the interval deleted in VCFS. ARVCF encodes a protein of 962 amino acids that contains a coiled coil domain and 10 tandem armadillo repeats. The primary structure of the protein is most closely related to the murine catenin p120(CAS), which suggests a role for ARVCF in protein-protein interactions at adherens junctions. ARVCF is expressed ubiquitously in all fetal and adult tissues examined. This gene is hemizygous in all VCFS patients with interstitial deletions. Based on the physical location and potential functions of ARVCF, we suggest that hemizygosity at this locus may play a role in the etiology of some of the phenotypes associated with VCFS.
AB - Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, cleft palate, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Both syndromes are thought to be the result of a developmental field defect. Using two independent gene isolation procedures, we isolated a new catenin family member termed ARVCF (armadillo repeat gene deleted in VCFS) from the interval deleted in VCFS. ARVCF encodes a protein of 962 amino acids that contains a coiled coil domain and 10 tandem armadillo repeats. The primary structure of the protein is most closely related to the murine catenin p120(CAS), which suggests a role for ARVCF in protein-protein interactions at adherens junctions. ARVCF is expressed ubiquitously in all fetal and adult tissues examined. This gene is hemizygous in all VCFS patients with interstitial deletions. Based on the physical location and potential functions of ARVCF, we suggest that hemizygosity at this locus may play a role in the etiology of some of the phenotypes associated with VCFS.
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U2 - 10.1006/geno.1997.4627
DO - 10.1006/geno.1997.4627
M3 - Article
C2 - 9126485
AN - SCOPUS:0031128131
VL - 41
SP - 75
EP - 83
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -