Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis

P. Scambler, O. Oyen, B. Wainwright, M. Farrall, Law Hai-Yang Law, Xavier P. Estivill, M. Sandberg, R. Williamson, T. Jahnsen

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Abstract

Cystic fibrosis (CF) is a common autosomal recessive disease with significant morbidity and mortality. Defects in cAMP control mechanisms are implicated in the pathophysiology of the disease. The mutation causing CF has been localized to chromosome 7q22-7q31.1. We have used (1) somatic-cell hybrids containing this region of the human genome in a mouse background and (2) segregation analysis in families to exclude both the genes coding for a catalytic subunit and three distinct regulatory subunits of cAMP-dependent protein kinase as candidates for the gene defect in CF. Two of these genes - those for the human homologue of the mouse type I regulatory subunit and the human homologue of the rat type II regulatory subunit - map to human chromosome 7.

Original languageEnglish
Pages (from-to)925-932
Number of pages8
JournalAmerican Journal of Human Genetics
Volume41
Issue number5
Publication statusPublished - 1987
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Scambler, P., Oyen, O., Wainwright, B., Farrall, M., Hai-Yang Law, L., Estivill, X. P., Sandberg, M., Williamson, R., & Jahnsen, T. (1987). Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis. American Journal of Human Genetics, 41(5), 925-932.