Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

• DOI: 10.1126/science.2475911
• Publication Date: 2006-10-05T21:21:28Z
• Authors: John R. Riordan; Johanna M. Rommens; Bat-Sheva Kerem; Noa Alon; Richard Rozmahel; Zbyszko Grzelczak; Julian Zielenski; Si Lok; Natasa Plavsic; Jia-Ling Chou; Mitchell L. Drumm; Michael C. Iannuzzi; Francis S. Collins; Lap-Chee Tsui
• Keywords: Cloning (programming); genomic DNA

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