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 polypepti...
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| Veröffentlicht in: | Human genetics 1992-08, Vol.89 (6), p.615-619 |
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| container_issue | 6 |
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| container_title | Human genetics |
| container_volume | 89 |
| creator | SLOMSKI, R SCHLOESSER, M BERG, L.-P WAGNER, M KAKKAR, V. V COOPER, D. N REISS, J |
| description | 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. |
| doi_str_mv | 10.1007/BF00221949 |
| format | Article |
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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.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00221949</identifier><identifier>PMID: 1380942</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Base Sequence ; Biological and medical sciences ; cystic fibrosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; Epithelium - physiology ; Exons - genetics ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene Expression - genetics ; genes ; Humans ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Lymphocytes - physiology ; Male ; man ; Medical sciences ; Membrane Proteins - genetics ; Molecular Sequence Data ; Other diseases. 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V</creatorcontrib><creatorcontrib>COOPER, D. N</creatorcontrib><creatorcontrib>REISS, J</creatorcontrib><title>Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>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.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator</subject><subject>Epithelium - physiology</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gene Expression - genetics</subject><subject>genes</subject><subject>Humans</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Lymphocytes - physiology</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Molecular Sequence Data</subject><subject>Other diseases. Semiology</subject><subject>Polymerase Chain Reaction</subject><subject>RNA, Messenger - genetics</subject><subject>splicing</subject><subject>transmembrane conductance regulator</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLAzEUhYMotT427oUsRFQYzXMyWWqxKhQKUtdDJr0pkXnUZAb03xttsUtXZ3E-Dvd-CJ1RcksJUXcPU0IYo1roPTSmgrOMMsL30ZhwQbJcUXWIjmJ8J4RKzeQIjSgviBZsjKp542P0XYs7h-EzJWXYt9h-xd5b7HwVuugj7oNpYwNNlRKw7drlYHvTWsABVkNt-i7gq8l08XqNV5CIX94Gv-7jCTpwpo5wus1j9DZ9XEyes9n86WVyP8ssF6zPKuVsYawTxHGjC2AFgzwXOucVM6JSIJ2AXDIpdWKoWhKpeeXAaSWNJAU_Rpeb3XXoPgaIfZles1DX6eJuiKXilGtW_A_SnEvJc5bAmw1ok4QYwJXr4BsTvkpKyh_z5c58gs-3q0PVwHKHblSn_mLbm2hN7ZIg6-MfJjiVNM18A2VAicg</recordid><startdate>19920801</startdate><enddate>19920801</enddate><creator>SLOMSKI, R</creator><creator>SCHLOESSER, M</creator><creator>BERG, L.-P</creator><creator>WAGNER, M</creator><creator>KAKKAR, V. 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Exocrine pancreas</topic><topic>Lymphocytes - physiology</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Molecular Sequence Data</topic><topic>Other diseases. Semiology</topic><topic>Polymerase Chain Reaction</topic><topic>RNA, Messenger - genetics</topic><topic>splicing</topic><topic>transmembrane conductance regulator</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SLOMSKI, R</creatorcontrib><creatorcontrib>SCHLOESSER, M</creatorcontrib><creatorcontrib>BERG, L.-P</creatorcontrib><creatorcontrib>WAGNER, M</creatorcontrib><creatorcontrib>KAKKAR, V. V</creatorcontrib><creatorcontrib>COOPER, D. 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| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1992-08, Vol.89 (6), p.615-619 |
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| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Base Sequence Biological and medical sciences cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator Epithelium - physiology Exons - genetics Female Gastroenterology. Liver. Pancreas. Abdomen Gene Expression - genetics genes Humans Liver. Biliary tract. Portal circulation. Exocrine pancreas Lymphocytes - physiology Male man Medical sciences Membrane Proteins - genetics Molecular Sequence Data Other diseases. Semiology Polymerase Chain Reaction RNA, Messenger - genetics splicing transmembrane conductance regulator |
| title | Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts |
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