Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
John R. Riordan(University of Toronto), Johanna M. Rommens(Hospital for Sick Children), Bat-Sheva Kerem(Hospital for Sick Children), Noa Alon(Hospital for Sick Children), Richard Rozmahel(Hospital for Sick Children), Zbyszko Grzelczak(Hospital for Sick Children), Julian Zielenski(Hospital for Sick Children), Si Lok(Hospital for Sick Children), N. Plavsic(Hospital for Sick Children), Jia-Ling Chou(Hospital for Sick Children), Mitchell L. Drumm(Howard Hughes Medical Institute), Michael C. Iannuzzi(Howard Hughes Medical Institute), Francis S. Collins(Howard Hughes Medical Institute), Lap-Chee Tsui(University of Toronto)
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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.