Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy

Barbara Janssens, Bhagyalaxmi Mohapatra, Matteo Vatta, Steven Goossens, Griet Vanpoucke, Patrick Kools, Tony Montoye, Jolanda Van Hengel, Neil E. Bowles, Frans Van Roy, Jeffrey Towbin

Research output: Contribution to journalArticle

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Abstract

αT-catenin is a novel member of the α-catenin family, which shows most abundant expression in cardiomyocytes and in peritubular myoid cells of the testis, pointing to a specific function for αT-catenin in particular muscle tissues. Like other α-catenins, αT-catenin provides an indispensable link between the cadherin-based cell-cell adhesion complex and the cytoskeleton, to mediate cell-cell adhesion. By isolating genomic clones, combined with database sequence analysis, we have been able to determine the structure of the CTNNA3 and Ctnna3 genes, encoding human and mouse αT-catenin, respectively. The positions of the exon-exon boundaries are completely conserved in CTNNA3, Ctnna3, and the αN-catenin encoding CTNNA2 gene. They overlap largely with the boundaries of the CTNNA2 and CTNNAL1 genes encoding αE-catenin and α-catulin, respectively. This emphasizes that these α-catenin genes evolved from the same ancestor gene. Nevertheless, the introns of CTNNA3 and Ctnna3 are remarkably large (often more than 100 kb) compared with introns of other CTNNA genes. The CTNNA3 gene was mapped to chromosome band 10q21 by both fluorescence in situ hybridization and polymerase-chain-reaction-based hybrid mapping. This region encodes a gene for autosomal dominant familial dilated cardiomyopathy (DCM), a common cause of morbidity and mortality. As αT-catenin is highly expressed in healthy heart tissue, we have considered CTNNA3 as a candidate disease gene in a family showing DCM linkage to the 10q21-q23 locus. Mutation screening of all 18 exons of the CTNNA3 gene in this family has, however, not detected any DCM-linked CTNNA3 mutations.

Original languageEnglish (US)
Pages (from-to)227-236
Number of pages10
JournalHuman genetics
Volume112
Issue number3
StatePublished - Mar 1 2003

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Catenins
Dilated Cardiomyopathy
Genes
Exons
Cell Adhesion
Introns
Dominant Genes
Mutation
Cadherins
Cytoskeleton
Fluorescence In Situ Hybridization
Cardiac Myocytes
Sequence Analysis
Testis
Clone Cells
Chromosomes
Databases
Morbidity

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Janssens, B., Mohapatra, B., Vatta, M., Goossens, S., Vanpoucke, G., Kools, P., ... Towbin, J. (2003). Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy. Human genetics, 112(3), 227-236.

Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy. / Janssens, Barbara; Mohapatra, Bhagyalaxmi; Vatta, Matteo; Goossens, Steven; Vanpoucke, Griet; Kools, Patrick; Montoye, Tony; Van Hengel, Jolanda; Bowles, Neil E.; Van Roy, Frans; Towbin, Jeffrey.

In: Human genetics, Vol. 112, No. 3, 01.03.2003, p. 227-236.

Research output: Contribution to journalArticle

Janssens, B, Mohapatra, B, Vatta, M, Goossens, S, Vanpoucke, G, Kools, P, Montoye, T, Van Hengel, J, Bowles, NE, Van Roy, F & Towbin, J 2003, 'Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy', Human genetics, vol. 112, no. 3, pp. 227-236.
Janssens B, Mohapatra B, Vatta M, Goossens S, Vanpoucke G, Kools P et al. Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy. Human genetics. 2003 Mar 1;112(3):227-236.
Janssens, Barbara ; Mohapatra, Bhagyalaxmi ; Vatta, Matteo ; Goossens, Steven ; Vanpoucke, Griet ; Kools, Patrick ; Montoye, Tony ; Van Hengel, Jolanda ; Bowles, Neil E. ; Van Roy, Frans ; Towbin, Jeffrey. / Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy. In: Human genetics. 2003 ; Vol. 112, No. 3. pp. 227-236.
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