Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome

Howard Sirotkin, Hilary O'Donnell, Ruchira DasGupta, Stephanie Halford, Bruno St. Jore, Anne Puech, Satish Parimoo, Bernice E. Morrow, Arthur I. Skoultchi, Sherman M. Weissman, Peter Scambler, 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 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 languageEnglish (US)
Pages (from-to)75-83
Number of pages9
JournalGenomics
Volume41
Issue number1
DOIs
StatePublished - Apr 1 1997

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DiGeorge Syndrome
Catenins
Genes
Armadillos
Phenotype
Adherens Junctions
Proteins
Tandem Repeat Sequences
Cleft Palate
Amino Acid Sequence
Fetus
Chromosomes
Amino Acids

ASJC Scopus subject areas

  • Genetics

Cite this

Sirotkin, H., O'Donnell, H., DasGupta, R., Halford, S., St. Jore, B., Puech, A., ... Kucherlapati, R. (1997). Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Genomics, 41(1), 75-83. https://doi.org/10.1006/geno.1997.4627

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 journalArticle

Sirotkin, H, O'Donnell, H, DasGupta, R, Halford, S, St. Jore, B, Puech, A, Parimoo, S, Morrow, BE, Skoultchi, AI, Weissman, SM, Scambler, P & Kucherlapati, R 1997, 'Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome', Genomics, vol. 41, no. 1, pp. 75-83. https://doi.org/10.1006/geno.1997.4627
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. / Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. In: Genomics. 1997 ; Vol. 41, No. 1. pp. 75-83.
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