Construction of a high-resolution physical map of the chromosome 10q22- q23 dilated cardiomyopathy locus and analysis of candidate genes

Karla R. Bowles, Sherin E. Abraham, Ramon Brugada, Carmelann Zintz, James Comeaux, Dan Sorajja, Shinichi Tsubata, Hua Li, Lois Brandon, Richard A. Gibbs, Steve E. Scherer, Neil E. Bowles, Jeffrey Towbin

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality and a leading cause of cardiac transplantation worldwide. Multiple loci and three genes encoding cardiac actin, desmin, and lamin A/C have been described for autosomal dominant DCM. Using recombination analysis, we have narrowed the 10q21-q23 locus to a region of approximately 4.1 cM. In addition, we have constructed a BAC contig, composed of 199 clones, which was used to develop a High-resolution physician map that contains the DCM critical region (approximately 3.9 Mb long). Seven genes, including ANX11, PPIF, DLG5, RPC155, RPS24, SFTPA1, and KCNMA1, have been mapped to the region of interest. RPC155, RPAS24, SFTPA1, and KCNMA1 were excluded from further analysis based on their known functions and tissue-specific expression patterns. Mutational analysis of ANX11, DLG5, and PPIF revealed no disease- associated mutations. Multiple ESTs have also been mapped to the critical region. (C) 2000 Academic Press.

Original languageEnglish (US)
Pages (from-to)109-127
Number of pages19
JournalGenomics
Volume67
Issue number2
DOIs
StatePublished - Jul 15 2000
Externally publishedYes

Fingerprint

Dilated Cardiomyopathy
Genetic Association Studies
Chromosomes
Lamin Type A
Desmin
Expressed Sequence Tags
Heart Transplantation
Genetic Recombination
Genes
Actins
Clone Cells
Morbidity
Physicians
Mutation
Mortality

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Construction of a high-resolution physical map of the chromosome 10q22- q23 dilated cardiomyopathy locus and analysis of candidate genes. / Bowles, Karla R.; Abraham, Sherin E.; Brugada, Ramon; Zintz, Carmelann; Comeaux, James; Sorajja, Dan; Tsubata, Shinichi; Li, Hua; Brandon, Lois; Gibbs, Richard A.; Scherer, Steve E.; Bowles, Neil E.; Towbin, Jeffrey.

In: Genomics, Vol. 67, No. 2, 15.07.2000, p. 109-127.

Research output: Contribution to journalArticle

Bowles, KR, Abraham, SE, Brugada, R, Zintz, C, Comeaux, J, Sorajja, D, Tsubata, S, Li, H, Brandon, L, Gibbs, RA, Scherer, SE, Bowles, NE & Towbin, J 2000, 'Construction of a high-resolution physical map of the chromosome 10q22- q23 dilated cardiomyopathy locus and analysis of candidate genes', Genomics, vol. 67, no. 2, pp. 109-127. https://doi.org/10.1006/geno.2000.6242
Bowles, Karla R. ; Abraham, Sherin E. ; Brugada, Ramon ; Zintz, Carmelann ; Comeaux, James ; Sorajja, Dan ; Tsubata, Shinichi ; Li, Hua ; Brandon, Lois ; Gibbs, Richard A. ; Scherer, Steve E. ; Bowles, Neil E. ; Towbin, Jeffrey. / Construction of a high-resolution physical map of the chromosome 10q22- q23 dilated cardiomyopathy locus and analysis of candidate genes. In: Genomics. 2000 ; Vol. 67, No. 2. pp. 109-127.
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