Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
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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Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene.
“Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene.”
From Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing (2019) · cites this paper as [1]
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- Authors
- Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M. L., Iannuzzi, M. C., Collins, F. S., & Tsui, L.-C.
- Affiliations
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- Howard Hughes Medical Institute (US)
- Venue
- Science
- Published
- 1989-09-08
- Volume
- 245
- Issue
- 4922
- Pages
- 1066-1073
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2039599894
- Cited by
- 7,418
- References
- 0
- Citations by year
- 2026: 79 · 2025: 126 · 2024: 130 · 2023: 136 · 2022: 151 · 2021: 193 · 2020: 260 · 2019: 219 · 2018: 191 · 2017: 185 · 2016: 196 · 2015: 220 · 2014: 188 · 2013: 227 · 2012: 231
- FWCI
- 452.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK 34944, DK39690)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- cystic fibrosis, cystic fibrosis transmembrane conductance regulator, CFTR gene, gene cloning, cDNA, chromosome 7, nucleotide-binding domain, ATP binding, membrane-associated proteins
- MeSH terms
- Amino Acid Sequence, Base Sequence, Biological Transport, Cloning, Molecular, Cystic Fibrosis, DNA, Genes, Genes, Recessive, Humans, Ion Channels, Membrane Proteins, Molecular Sequence Data, Peptides, Sequence Homology, Nucleic Acid, Transcription, Genetic, Cystic Fibrosis Transmembrane Conductance Regulator
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