Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene

Karla R. Bowles, Jason Gibson, Jessica Wu, Lisa G. Shaffer, Jeffrey Towbin, Neil E. Bowles

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

Myocarditis and dilated cardiomyopathy (DCM) are common causes of morbidity and mortality in children. Many studies have implicated the enteroviruses and, particularly, the Coxsackievirus-B family as etiologic agents of the acquired forms of these diseases. However, we have shown the group-C adenoviruses to be as commonly detected as enteroviruses in the myocardium of children and adults with these diseases. It has remained something of a conundrum why two such divergent virus families cause these diseases. The recent description of the common human Coxsackievirus B-adenovirus receptor (CAR) offers at least a partial explanation. In order to characterize the CAR gene, we screened a bacterial artificial chromosomal (BAC) library (RPCI11) using a polymerase chain reaction (PCR) product derived from the 3' end of the CAR cDNA sequence. This identified 13 BACs that were further characterized by PCR amplification of seven contiguous regions of the entire cDNA sequence. Eleven of the BACs were determined to encode pseudogenes while the other two BACs (131J5 and 246M1) encoded the presumed functional gene. PCR amplification of a monochromosomal hybrid panel indicated the presence of pseudogenes on chromosomes 15, 18, and 21 while the functional gene is encoded on chromosome 21. Fluorescence in situ hybridization analysis indicated that the gene is located at 21q11.2. DNA sequencing of BACs 131J5 and 246M1 revealed the presence of seven exons. The DNA sequences have been determined for each exon-intron boundary, and putative promoter sequences and transcription initiation sites identified. No consensus polyadenylation signal was identified.

Original languageEnglish (US)
Pages (from-to)354-359
Number of pages6
JournalHuman Genetics
Volume105
Issue number4
DOIs
StatePublished - Jan 1 1999
Externally publishedYes

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Chromosomes, Human, Pair 21
Pseudogenes
Enterovirus
Polymerase Chain Reaction
Genes
Exons
Complementary DNA
Human Enterovirus B
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 15
Child Mortality
Polyadenylation
Transcription Initiation Site
Myocarditis
Dilated Cardiomyopathy
Fluorescence In Situ Hybridization
DNA Sequence Analysis
Adenoviridae
Introns
Libraries

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene. / Bowles, Karla R.; Gibson, Jason; Wu, Jessica; Shaffer, Lisa G.; Towbin, Jeffrey; Bowles, Neil E.

In: Human Genetics, Vol. 105, No. 4, 01.01.1999, p. 354-359.

Research output: Contribution to journalArticle

Bowles, Karla R. ; Gibson, Jason ; Wu, Jessica ; Shaffer, Lisa G. ; Towbin, Jeffrey ; Bowles, Neil E. / Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene. In: Human Genetics. 1999 ; Vol. 105, No. 4. pp. 354-359.
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