Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis.
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.
D000818:Animals; D002384:Catalysis; D002460:Cell Line; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D051379:Mice; D009693:Nucleic Acid Hybridization; D011494:Protein Kinases / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
D005819:Genetic Markers; D011494:Protein Kinases