Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator

Kelley, K. A., Stamm, S., Kozak, C. A. (June 1992) Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator. Genomics, 13 (2). pp. 381-8. ISSN 0888-7543 (Print)0888-7543 (Linking)

URL: http://www.ncbi.nlm.nih.gov/pubmed/1377165
DOI: 10.1016/0888-7543(92)90257-S

Abstract

A 13.5-kb genomic fragment of the mouse cystic fibrosis transmembrane conductance regulator (CFTR) gene was isolated from a C57BL/6J liver DNA library, using a human CFTR exon 10 probe. This region of the human gene includes the most common cystic fibrosis mutation (deletion of the Phe508 residue) in the first nucleotide binding domain of CFTR. Sequence analysis demonstrated 87% identity between the predicted mouse and the normal human CFTR exon 10 sequences, including conservation of the Phe508 residue. Northern analysis revealed that the mouse gene is expressed in intestine, lung, stomach, kidney, and salivary gland. In contrast to human CFTR, murine CFTR transcripts were not detectable by Northern analysis in the liver or pancreas. More sensitive PCR analysis, however, revealed that the mouse CFTR gene is weakly expressed in other tissues, including liver and pancreas. During development, mouse CFTR transcripts were observed as early as Embryonic Day 13. Southern analysis of mouse x Chinese hamster somatic cell hybrid DNAs mapped the mouse CFTR locus (Cftr) to Chromosome 6 (Chr 6). Subsequent typing of the progeny of an interspecies backcross revealed that Cftr is closely linked to the proto-oncogene c-met locus (Met) in the centromeric region of mouse Chr 6, consistent with the observation that there is a conserved chromosomal segment on human chromosome 7 and mouse Chr 6.

Item Type: Paper
Uncontrolled Keywords: Amino Acid Sequence Animals Base Sequence Blotting, Northern Cystic Fibrosis/*genetics Cystic Fibrosis Transmembrane Conductance Regulator Gene Expression Genes Humans Membrane Proteins/biosynthesis/*genetics Mice/*genetics Mice, Inbred C57BL/genetics Molecular Sequence Data Polymerase Chain Reaction RNA, Messenger/biosynthesis Sequence Homology, Nucleic Acid Species Specificity
Subjects: diseases & disorders > congenital hereditary genetic diseases > cystic fibrosis
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function > gene expression
physics > biophysics > membrane dynamics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mRNA
CSHL Authors:
Communities: CSHL labs
Depositing User: Matt Covey
Date: June 1992
Date Deposited: 30 Sep 2015 15:00
Last Modified: 30 Sep 2015 15:00
Related URLs:
URI: http://repository.cshl.edu/id/eprint/31800

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