Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.
Cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts isolated from both expressing and "non-expressing" cell types of normal individuals exhibit differential splicing to a variable extent in a region encoding the putative nucleotide binding fold of the CFTR polypeptide. Sequence analysis of the aberrant fragments obtained after cDNA polymerase chain reaction amplification confirmed the in-frame joining of exons 11 and 13. The proportion of alternative splicing is reproducible and constant in a given individual. The omission of exon 12 in a significant proportion of transcripts supports the hypothesis that a minimal amount of correctly expressed CFTR is sufficient for the maintenance of a clinically normal phenotype.
Slomski
R
R
Institut für Humangenetik, Universität, Göttingen, Federal Republic of Germany.
Schloesser
M
M
Berg
L P
LP
Wagner
M
M
Kakkar
V V
VV
Cooper
D N
DN
Reiss
J
J
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004848:Epithelium / Q000502:physiology; D005091:Exons / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics
C505032:CFTR protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator