A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models
Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis (CF) patients worldwide, and an enormous wealth of information concerning the structure and function of the protein has also...
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ftciteseerx:oai:CiteSeerX.psu:10.1.1.532.2813 2023-05-15T15:32:31+02:00 A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models Jian-min Chen Chris Cutler Caroline Jacques Gilles Bœuf Erick Denamur Guillaume Lecointre Bernard Mercier Gordon Cramb The Pennsylvania State University CiteSeerX Archives 2001 application/pdf http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.532.2813 http://mbe.oxfordjournals.org/content/18/9/1771.full.pdf en eng http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.532.2813 http://mbe.oxfordjournals.org/content/18/9/1771.full.pdf Metadata may be used without restrictions as long as the oai identifier remains attached to it. http://mbe.oxfordjournals.org/content/18/9/1771.full.pdf text 2001 ftciteseerx 2016-01-08T10:39:52Z Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis (CF) patients worldwide, and an enormous wealth of information concerning the structure and function of the protein has also been accumulated. These data, if evaluated together in a sequence comparison of all currently available CFTR homologs, are likely to refine the global structure-function relationship of the protein, which will, in turn, facilitate interpretation of the identified mutations in the gene. Based on such a combined analysis, we had recently defined a ‘‘functional R domain’ ’ of the CFTR protein. First, presenting two full-length cDNA sequences (termed sCFTR-I and sCFTR-II) from the Atlantic salmon (Salmo salar) and an additional partial coding sequence from the eastern gray kangaroo (Macropus giganteus), this study went further to refine the boundaries of the two nucleotide-binding domains (NBDs) and the COOH-terminal tail (C-tail), wherein NBD1 was defined as going from P439 to G646, NBD2 as going from A1225 to E1417, and the C-tail as going from E1418 to L1480. This approach also provided further insights into the differential roles of the two halves of CFTR and highlighted several well-conserved motifs that may be involved in inter- or intramolecular Text Atlantic salmon Salmo salar Unknown Giganteus ENVELOPE(62.500,62.500,-67.567,-67.567) |
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ftciteseerx |
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English |
description |
Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis (CF) patients worldwide, and an enormous wealth of information concerning the structure and function of the protein has also been accumulated. These data, if evaluated together in a sequence comparison of all currently available CFTR homologs, are likely to refine the global structure-function relationship of the protein, which will, in turn, facilitate interpretation of the identified mutations in the gene. Based on such a combined analysis, we had recently defined a ‘‘functional R domain’ ’ of the CFTR protein. First, presenting two full-length cDNA sequences (termed sCFTR-I and sCFTR-II) from the Atlantic salmon (Salmo salar) and an additional partial coding sequence from the eastern gray kangaroo (Macropus giganteus), this study went further to refine the boundaries of the two nucleotide-binding domains (NBDs) and the COOH-terminal tail (C-tail), wherein NBD1 was defined as going from P439 to G646, NBD2 as going from A1225 to E1417, and the C-tail as going from E1418 to L1480. This approach also provided further insights into the differential roles of the two halves of CFTR and highlighted several well-conserved motifs that may be involved in inter- or intramolecular |
author2 |
The Pennsylvania State University CiteSeerX Archives |
format |
Text |
author |
Jian-min Chen Chris Cutler Caroline Jacques Gilles Bœuf Erick Denamur Guillaume Lecointre Bernard Mercier Gordon Cramb |
spellingShingle |
Jian-min Chen Chris Cutler Caroline Jacques Gilles Bœuf Erick Denamur Guillaume Lecointre Bernard Mercier Gordon Cramb A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
author_facet |
Jian-min Chen Chris Cutler Caroline Jacques Gilles Bœuf Erick Denamur Guillaume Lecointre Bernard Mercier Gordon Cramb |
author_sort |
Jian-min Chen |
title |
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
title_short |
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
title_full |
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
title_fullStr |
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
title_full_unstemmed |
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
title_sort |
combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models |
publishDate |
2001 |
url |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.532.2813 http://mbe.oxfordjournals.org/content/18/9/1771.full.pdf |
long_lat |
ENVELOPE(62.500,62.500,-67.567,-67.567) |
geographic |
Giganteus |
geographic_facet |
Giganteus |
genre |
Atlantic salmon Salmo salar |
genre_facet |
Atlantic salmon Salmo salar |
op_source |
http://mbe.oxfordjournals.org/content/18/9/1771.full.pdf |
op_relation |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.532.2813 http://mbe.oxfordjournals.org/content/18/9/1771.full.pdf |
op_rights |
Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
_version_ |
1766363015649689600 |