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

doi:10.1126/science.2475911

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 journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	1066-1073
Number of pages	8
Journal	Science
Volume	245
Issue number	4922
DOIs	https://doi.org/10.1126/science.2475911
State	Published - 1989
Externally published	Yes

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Riordan, J. R., Rommens, J. M., Kerem, B. S., Alon, N. O. A., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S. I., Plavsic, N., Chou, J. L., Drumm, M. L., Iannuzzi, M. C., Collins, F. S., & Tsui, L. C. (1989). Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science, 245(4922), 1066-1073. https://doi.org/10.1126/science.2475911

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title = "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.",

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

year = "1989",

doi = "10.1126/science.2475911",

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T2 - Cloning and characterization of complementary DNA

AU - Riordan, John R.

AU - Rommens, Johanna M.

AU - Kerem, Bat Sheva

AU - Alon, N. O.A.

AU - Rozmahel, Richard

AU - Grzelczak, Zbyszko

AU - Zielenski, Julian

AU - Lok, S. I.

AU - Plavsic, Natasa

AU - Chou, Jia Ling

AU - Drumm, Mitchell L.

AU - Iannuzzi, Michael C.

AU - Collins, Francis S.

AU - Tsui, Lap Chee

PY - 1989

Y1 - 1989

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

Abstract

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