Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
John R. RiordanDepartment of Biochemistry, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, CanadaJohanna M. RommensDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaBat-Sheva KeremDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaNoa AlonDepartment of Biochemistry, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, CanadaRichard RozmahelDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaZbyszko GrzelczakDepartment of Biochemistry, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, CanadaJulian ZielenskiDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaSi LokDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaN. PlavsicDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaJia-Ling ChouDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, CanadaMitchell L. DrummHoward Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109Michael C. IannuzziHoward Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109Francis S. CollinsHoward Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, MI 48109Lap-Chee TsuiDepartment of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
1989en
ABI
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.
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