Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
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.
Riordan
J R
JR
Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada.
Rommens
J M
JM
Kerem
B
B
Alon
N
N
Rozmahel
R
R
Grzelczak
Z
Z
Zielenski
J
J
Lok
S
S
Plavsic
N
N
Chou
J L
JL
D000595:Amino Acid Sequence; D001483:Base Sequence; D001692:Biological Transport; D003001:Cloning, Molecular / Q000379:methods; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000302:isolation & purification*; D005796:Genes; D005808:Genes, Recessive; D006801:Humans; D007473:Ion Channels / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics* / Q000302:isolation & purification; D008969:Molecular Sequence Data; D010455:Peptides / Q000235:genetics* / Q000302:isolation & purification; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
C505032:CFTR protein, human; D007473:Ion Channels; D008565:Membrane Proteins; D010455:Peptides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA