Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA

John R. Riordan*, Johanna M. Rommens, Bat Sheva Kerem, N. O.A. Alon, Richard Rozmahel, Zbyszko Grzelczak, Julian Zielenski, S. I. Lok, Natasa Plavsic, Jia Ling Chou, Mitchell L. Drumm, Michael C. Iannuzzi, Francis S. Collins, Lap Chee Tsui

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6313 Scopus citations

Abstract

Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7. Transcripts, approximately 6500 nucleotides in size, were detectable in the tissues affected in patients with CF. The predicted protein consists of two similar motifs, each with (i) a domain having properties consistent with membrane association and (ii) a domain believed to be involved in ATP (adenosine triphosphate) binding. A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.

Original languageAmerican English
Pages (from-to)1066-1073
Number of pages8
JournalScience
Volume245
Issue number4922
DOIs
StatePublished - 1989
Externally publishedYes

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