Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 75-83 |
| Number of pages | 9 |
| Journal | Genomics |
| Volume | 41 |
| Issue number | 1 |
| DOIs | |
| State | Published - Apr 1 1997 |
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ASJC Scopus subject areas
- Genetics
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Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. / Sirotkin, Howard; O'Donnell, Hilary; DasGupta, Ruchira; Halford, Stephanie; St. Jore, Bruno; Puech, Anne; Parimoo, Satish; Morrow, Bernice E.; Skoultchi, Arthur I.; Weissman, Sherman M.; Scambler, Peter; Kucherlapati, Raju.
In: Genomics, Vol. 41, No. 1, 01.04.1997, p. 75-83.Research output: Contribution to journal › Article
}
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 E.
AU - Skoultchi, Arthur I.
AU - Weissman, Sherman M.
AU - Scambler, Peter
AU - Kucherlapati, Raju
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
VL - 41
SP - 75
EP - 83
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -