Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
Identifieur interne : 001C72 ( PascalFrancis/Curation ); précédent : 001C71; suivant : 001C73Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
Auteurs : Claude Ferec [France] ; Teresa Casals [Espagne] ; Nadia Chuzhanova [Royaume-Uni] ; Milan Jr Macek [République tchèque] ; Thierry Bienvenu [France] ; Andrea Holubova [République tchèque] ; Caitriona King [Irlande (pays)] ; Trudi Mcdevitt [Irlande (pays)] ; Carlo Castellani [Italie] ; Philip M. Farrell [États-Unis] ; Molly Sheridan [États-Unis] ; Sarah-Jane Pantaleo [Australie] ; Ourida Loumi ; Taieb Messaoud ; Harry Cuppens ; Francesca Torricelli ; Garry R. Cutting [États-Unis] ; Robert Williamson ; Maria Jesus Alonso Ramos ; Pier Franco Pignatti ; Odile Raguenes [France] ; David N. Cooper ; Marie-Pierre Audrezet [France] ; Jian-Min Chen [France]Source :
- European journal of human genetics [ 1018-4813 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
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Abstract
Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for ∼20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six novel mutations (three simple deletions, two complex deletions with short insertions of 3-6 bp, and a complex deletion with a 182 bp inverted downstream sequence) were characterized by screening 274 unidentified CF chromosomes from 10 different countries. These lesions increase the total number of fully characterized large CFTR genomic rearrangements involving deletions to 21. Systematic analysis of the 42 associated breakpoints indicated that all 21 events were caused by nonhomologous recombination. Whole gene complexity analysis revealed a significant correlation between regions of low sequence complexity and the locations of the deletion breakpoints. Known recombination-promoting motifs were noted in the vicinity of the breakpoints. A total of 11 simple deletions were potentially explicable in terms of the classical model of replication slippage. However, the complex deletions appear to have arisen via multiple mechanisms; three of the five complex deletions with short insertions and both examples of large inverted insertions (299 and 182 bp, respectively) can be explained by either a model of serial replication slippage in cis (SRScis) or SRS in trans (SRStrans). Finally, the nature and distribution of large genomic rearrangements in the CFTR gene were compared and contrasted with those of two other genes, DMD and MSH2, with a view to gaining a broader understanding of DNA sequence context in mediating the diverse underlying mutational mechanisms.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms</title><author><name sortKey="Ferec, Claude" sort="Ferec, Claude" uniqKey="Ferec C" first="Claude" last="Ferec">Claude Ferec</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Université de Bretagne Occidentale, Faculté de Médecine de Brest et des Sciences de la Santé</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Etablissement Français du Sang - Bretagne</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Casals, Teresa" sort="Casals, Teresa" uniqKey="Casals T" first="Teresa" last="Casals">Teresa Casals</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Chuzhanova, Nadia" sort="Chuzhanova, Nadia" uniqKey="Chuzhanova N" first="Nadia" last="Chuzhanova">Nadia Chuzhanova</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Biostatistics and Bioinformatics Unit, Cardiff University</s1><s2>Cardiff</s2><s3>GBR</s3><sZ>3 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Macek, Milan Jr" sort="Macek, Milan Jr" uniqKey="Macek M" first="Milan Jr" last="Macek">Milan Jr Macek</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Biology and Medical Genetics-Cystic Fibrosis Center, Charles University</s1><s2>Prague</s2><s3>CZE</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>République tchèque</country></affiliation></author><author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Holubova, Andrea" sort="Holubova, Andrea" uniqKey="Holubova A" first="Andrea" last="Holubova">Andrea Holubova</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Biology and Medical Genetics-Cystic Fibrosis Center, Charles University</s1><s2>Prague</s2><s3>CZE</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>République tchèque</country></affiliation></author><author><name sortKey="King, Caitriona" sort="King, Caitriona" uniqKey="King C" first="Caitriona" last="King">Caitriona King</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>National Centre for Medical Genetics and Department of Paediatrics, University College Dublin, Our Lady's Hospital for Sick Children</s1><s2>Crumlin, Dublin</s2><s3>IRL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Irlande (pays)</country></affiliation></author><author><name sortKey="Mcdevitt, Trudi" sort="Mcdevitt, Trudi" uniqKey="Mcdevitt T" first="Trudi" last="Mcdevitt">Trudi Mcdevitt</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>National Centre for Medical Genetics and Department of Paediatrics, University College Dublin, Our Lady's Hospital for Sick Children</s1><s2>Crumlin, Dublin</s2><s3>IRL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Irlande (pays)</country></affiliation></author><author><name sortKey="Castellani, Carlo" sort="Castellani, Carlo" uniqKey="Castellani C" first="Carlo" last="Castellani">Carlo Castellani</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Cystic Fibrosis Centre, Azienda Ospedaliera di Verona</s1><s2>Verona</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Farrell, Philip M" sort="Farrell, Philip M" uniqKey="Farrell P" first="Philip M." last="Farrell">Philip M. Farrell</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Pediatrics, University of Wisconsin Medical School</s1><s2>Madison, WI</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Sheridan, Molly" sort="Sheridan, Molly" uniqKey="Sheridan M" first="Molly" last="Sheridan">Molly Sheridan</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Institute of Genetic Medicine, Johns Hopkins University School of Medicine</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Pantaleo, Sarah Jane" sort="Pantaleo, Sarah Jane" uniqKey="Pantaleo S" first="Sarah-Jane" last="Pantaleo">Sarah-Jane Pantaleo</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Genetic Health Services Victoria, Royal Children's Hospital</s1><s2>Parkville</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Loumi, Ourida" sort="Loumi, Ourida" uniqKey="Loumi O" first="Ourida" last="Loumi">Ourida Loumi</name></author><author><name sortKey="Messaoud, Taieb" sort="Messaoud, Taieb" uniqKey="Messaoud T" first="Taieb" last="Messaoud">Taieb Messaoud</name></author><author><name sortKey="Cuppens, Harry" sort="Cuppens, Harry" uniqKey="Cuppens H" first="Harry" last="Cuppens">Harry Cuppens</name></author><author><name sortKey="Torricelli, Francesca" sort="Torricelli, Francesca" uniqKey="Torricelli F" first="Francesca" last="Torricelli">Francesca Torricelli</name></author><author><name sortKey="Cutting, Garry R" sort="Cutting, Garry R" uniqKey="Cutting G" first="Garry R." last="Cutting">Garry R. Cutting</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Institute of Genetic Medicine, Johns Hopkins University School of Medicine</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Williamson, Robert" sort="Williamson, Robert" uniqKey="Williamson R" first="Robert" last="Williamson">Robert Williamson</name></author><author><name sortKey="Ramos, Maria Jesus Alonso" sort="Ramos, Maria Jesus Alonso" uniqKey="Ramos M" first="Maria Jesus Alonso" last="Ramos">Maria Jesus Alonso Ramos</name></author><author><name sortKey="Pignatti, Pier Franco" sort="Pignatti, Pier Franco" uniqKey="Pignatti P" first="Pier Franco" last="Pignatti">Pier Franco Pignatti</name></author><author><name sortKey="Raguenes, Odile" sort="Raguenes, Odile" uniqKey="Raguenes O" first="Odile" last="Raguenes">Odile Raguenes</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Cooper, David N" sort="Cooper, David N" uniqKey="Cooper D" first="David N." last="Cooper">David N. Cooper</name></author><author><name sortKey="Audrezet, Marie Pierre" sort="Audrezet, Marie Pierre" uniqKey="Audrezet M" first="Marie-Pierre" last="Audrezet">Marie-Pierre Audrezet</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Chen, Jian Min" sort="Chen, Jian Min" uniqKey="Chen J" first="Jian-Min" last="Chen">Jian-Min Chen</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Université de Bretagne Occidentale, Faculté de Médecine de Brest et des Sciences de la Santé</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Etablissement Français du Sang - Bretagne</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0239773</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0239773 INIST</idno><idno type="RBID">Pascal:06-0239773</idno><idno type="wicri:Area/PascalFrancis/Corpus">004423</idno><idno type="wicri:Area/PascalFrancis/Curation">001C72</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms</title><author><name sortKey="Ferec, Claude" sort="Ferec, Claude" uniqKey="Ferec C" first="Claude" last="Ferec">Claude Ferec</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Université de Bretagne Occidentale, Faculté de Médecine de Brest et des Sciences de la Santé</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Etablissement Français du Sang - Bretagne</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Casals, Teresa" sort="Casals, Teresa" uniqKey="Casals T" first="Teresa" last="Casals">Teresa Casals</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Chuzhanova, Nadia" sort="Chuzhanova, Nadia" uniqKey="Chuzhanova N" first="Nadia" last="Chuzhanova">Nadia Chuzhanova</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Biostatistics and Bioinformatics Unit, Cardiff University</s1><s2>Cardiff</s2><s3>GBR</s3><sZ>3 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Macek, Milan Jr" sort="Macek, Milan Jr" uniqKey="Macek M" first="Milan Jr" last="Macek">Milan Jr Macek</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Biology and Medical Genetics-Cystic Fibrosis Center, Charles University</s1><s2>Prague</s2><s3>CZE</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>République tchèque</country></affiliation></author><author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Holubova, Andrea" sort="Holubova, Andrea" uniqKey="Holubova A" first="Andrea" last="Holubova">Andrea Holubova</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institute of Biology and Medical Genetics-Cystic Fibrosis Center, Charles University</s1><s2>Prague</s2><s3>CZE</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>République tchèque</country></affiliation></author><author><name sortKey="King, Caitriona" sort="King, Caitriona" uniqKey="King C" first="Caitriona" last="King">Caitriona King</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>National Centre for Medical Genetics and Department of Paediatrics, University College Dublin, Our Lady's Hospital for Sick Children</s1><s2>Crumlin, Dublin</s2><s3>IRL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Irlande (pays)</country></affiliation></author><author><name sortKey="Mcdevitt, Trudi" sort="Mcdevitt, Trudi" uniqKey="Mcdevitt T" first="Trudi" last="Mcdevitt">Trudi Mcdevitt</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>National Centre for Medical Genetics and Department of Paediatrics, University College Dublin, Our Lady's Hospital for Sick Children</s1><s2>Crumlin, Dublin</s2><s3>IRL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Irlande (pays)</country></affiliation></author><author><name sortKey="Castellani, Carlo" sort="Castellani, Carlo" uniqKey="Castellani C" first="Carlo" last="Castellani">Carlo Castellani</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Cystic Fibrosis Centre, Azienda Ospedaliera di Verona</s1><s2>Verona</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Farrell, Philip M" sort="Farrell, Philip M" uniqKey="Farrell P" first="Philip M." last="Farrell">Philip M. Farrell</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Pediatrics, University of Wisconsin Medical School</s1><s2>Madison, WI</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Sheridan, Molly" sort="Sheridan, Molly" uniqKey="Sheridan M" first="Molly" last="Sheridan">Molly Sheridan</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Institute of Genetic Medicine, Johns Hopkins University School of Medicine</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Pantaleo, Sarah Jane" sort="Pantaleo, Sarah Jane" uniqKey="Pantaleo S" first="Sarah-Jane" last="Pantaleo">Sarah-Jane Pantaleo</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Genetic Health Services Victoria, Royal Children's Hospital</s1><s2>Parkville</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Loumi, Ourida" sort="Loumi, Ourida" uniqKey="Loumi O" first="Ourida" last="Loumi">Ourida Loumi</name></author><author><name sortKey="Messaoud, Taieb" sort="Messaoud, Taieb" uniqKey="Messaoud T" first="Taieb" last="Messaoud">Taieb Messaoud</name></author><author><name sortKey="Cuppens, Harry" sort="Cuppens, Harry" uniqKey="Cuppens H" first="Harry" last="Cuppens">Harry Cuppens</name></author><author><name sortKey="Torricelli, Francesca" sort="Torricelli, Francesca" uniqKey="Torricelli F" first="Francesca" last="Torricelli">Francesca Torricelli</name></author><author><name sortKey="Cutting, Garry R" sort="Cutting, Garry R" uniqKey="Cutting G" first="Garry R." last="Cutting">Garry R. Cutting</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Institute of Genetic Medicine, Johns Hopkins University School of Medicine</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Williamson, Robert" sort="Williamson, Robert" uniqKey="Williamson R" first="Robert" last="Williamson">Robert Williamson</name></author><author><name sortKey="Ramos, Maria Jesus Alonso" sort="Ramos, Maria Jesus Alonso" uniqKey="Ramos M" first="Maria Jesus Alonso" last="Ramos">Maria Jesus Alonso Ramos</name></author><author><name sortKey="Pignatti, Pier Franco" sort="Pignatti, Pier Franco" uniqKey="Pignatti P" first="Pier Franco" last="Pignatti">Pier Franco Pignatti</name></author><author><name sortKey="Raguenes, Odile" sort="Raguenes, Odile" uniqKey="Raguenes O" first="Odile" last="Raguenes">Odile Raguenes</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Cooper, David N" sort="Cooper, David N" uniqKey="Cooper D" first="David N." last="Cooper">David N. Cooper</name></author><author><name sortKey="Audrezet, Marie Pierre" sort="Audrezet, Marie Pierre" uniqKey="Audrezet M" first="Marie-Pierre" last="Audrezet">Marie-Pierre Audrezet</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Chen, Jian Min" sort="Chen, Jian Min" uniqKey="Chen J" first="Jian-Min" last="Chen">Jian-Min Chen</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Université de Bretagne Occidentale, Faculté de Médecine de Brest et des Sciences de la Santé</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Etablissement Français du Sang - Bretagne</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation></author></analytic><series><title level="j" type="main">European journal of human genetics</title><title level="j" type="abbreviated">Eur. j. hum. genet.</title><idno type="ISSN">1018-4813</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">European journal of human genetics</title><title level="j" type="abbreviated">Eur. j. hum. genet.</title><idno type="ISSN">1018-4813</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Breakpoint</term><term>Characterization</term><term>Chromosome</term><term>Chromosome break</term><term>Cohort study</term><term>Cystic fibrosis</term><term>Cystic fibrosis transmembrane conductance regulator</term><term>Deletion</term><term>Etiology</term><term>Gene</term><term>Genetics</term><term>Genomics</term><term>Mechanism</term><term>Metaanalysis</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Délétion</term><term>Mucoviscidose</term><term>Génomique</term><term>Régulateur conductance transmembranaire mucoviscidose</term><term>Gène</term><term>Caractérisation</term><term>Etude cohorte</term><term>Chromosome</term><term>Métaanalyse</term><term>Etiologie</term><term>Mécanisme</term><term>Point cassure</term><term>Cassure chromosomique</term><term>Mutation</term><term>Génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for ∼20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six novel mutations (three simple deletions, two complex deletions with short insertions of 3-6 bp, and a complex deletion with a 182 bp inverted downstream sequence) were characterized by screening 274 unidentified CF chromosomes from 10 different countries. These lesions increase the total number of fully characterized large CFTR genomic rearrangements involving deletions to 21. Systematic analysis of the 42 associated breakpoints indicated that all 21 events were caused by nonhomologous recombination. Whole gene complexity analysis revealed a significant correlation between regions of low sequence complexity and the locations of the deletion breakpoints. Known recombination-promoting motifs were noted in the vicinity of the breakpoints. A total of 11 simple deletions were potentially explicable in terms of the classical model of replication slippage. However, the complex deletions appear to have arisen via multiple mechanisms; three of the five complex deletions with short insertions and both examples of large inverted insertions (299 and 182 bp, respectively) can be explained by either a model of serial replication slippage in cis (SRScis) or SRS in trans (SRStrans). Finally, the nature and distribution of large genomic rearrangements in the CFTR gene were compared and contrasted with those of two other genes, DMD and MSH2, with a view to gaining a broader understanding of DNA sequence context in mediating the diverse underlying mutational mechanisms.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1018-4813</s0></fA01><fA03 i2="1"><s0>Eur. j. hum. genet.</s0></fA03><fA05><s2>14</s2></fA05><fA06><s2>5</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Gross genomic rearrangements involving deletions in the CFTR gene : characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms</s1></fA08><fA11 i1="01" i2="1"><s1>FEREC (Claude)</s1></fA11><fA11 i1="02" i2="1"><s1>CASALS (Teresa)</s1></fA11><fA11 i1="03" i2="1"><s1>CHUZHANOVA (Nadia)</s1></fA11><fA11 i1="04" i2="1"><s1>MACEK (Milan JR)</s1></fA11><fA11 i1="05" i2="1"><s1>BIENVENU (Thierry)</s1></fA11><fA11 i1="06" i2="1"><s1>HOLUBOVA (Andrea)</s1></fA11><fA11 i1="07" i2="1"><s1>KING (Caitriona)</s1></fA11><fA11 i1="08" i2="1"><s1>MCDEVITT (Trudi)</s1></fA11><fA11 i1="09" i2="1"><s1>CASTELLANI (Carlo)</s1></fA11><fA11 i1="10" i2="1"><s1>FARRELL (Philip M.)</s1></fA11><fA11 i1="11" i2="1"><s1>SHERIDAN (Molly)</s1></fA11><fA11 i1="12" i2="1"><s1>PANTALEO (Sarah-Jane)</s1></fA11><fA11 i1="13" i2="1"><s1>LOUMI (Ourida)</s1></fA11><fA11 i1="14" i2="1"><s1>MESSAOUD (Taieb)</s1></fA11><fA11 i1="15" i2="1"><s1>CUPPENS (Harry)</s1></fA11><fA11 i1="16" i2="1"><s1>TORRICELLI (Francesca)</s1></fA11><fA11 i1="17" i2="1"><s1>CUTTING (Garry R.)</s1></fA11><fA11 i1="18" i2="1"><s1>WILLIAMSON (Robert)</s1></fA11><fA11 i1="19" i2="1"><s1>RAMOS (Maria Jesus Alonso)</s1></fA11><fA11 i1="20" i2="1"><s1>PIGNATTI (Pier Franco)</s1></fA11><fA11 i1="21" i2="1"><s1>RAGUENES (Odile)</s1></fA11><fA11 i1="22" i2="1"><s1>COOPER (David N.)</s1></fA11><fA11 i1="23" i2="1"><s1>AUDREZET (Marie-Pierre)</s1></fA11><fA11 i1="24" i2="1"><s1>CHEN (Jian-Min)</s1></fA11><fA14 i1="01"><s1>INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique)</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></fA14><fA14 i1="02"><s1>Université de Bretagne Occidentale, Faculté de Médecine de Brest et des Sciences de la Santé</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></fA14><fA14 i1="03"><s1>Etablissement Français du Sang - Bretagne</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>24 aut.</sZ></fA14><fA14 i1="04"><s1>CHRU Brest, Hôpital Morvan, Laboratoire de Génétique Moléculaire et d'Histocompatibilité</s1><s2>Brest</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></fA14><fA14 i1="05"><s1>Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ></fA14><fA14 i1="06"><s1>Biostatistics and Bioinformatics Unit, Cardiff University</s1><s2>Cardiff</s2><s3>GBR</s3><sZ>3 aut.</sZ></fA14><fA14 i1="07"><s1>Institute of Biology and Medical Genetics-Cystic Fibrosis Center, Charles University</s1><s2>Prague</s2><s3>CZE</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="08"><s1>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></fA14><fA14 i1="09"><s1>National Centre for Medical Genetics and Department of Paediatrics, University College Dublin, Our Lady's Hospital for Sick Children</s1><s2>Crumlin, Dublin</s2><s3>IRL</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ></fA14><fA14 i1="10"><s1>Cystic Fibrosis Centre, Azienda Ospedaliera di Verona</s1><s2>Verona</s2><s3>ITA</s3><sZ>9 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Pediatrics, University of Wisconsin Medical School</s1><s2>Madison, WI</s2><s3>USA</s3><sZ>10 aut.</sZ></fA14><fA14 i1="12"><s1>Institute of Genetic Medicine, Johns Hopkins University School of Medicine</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>11 aut.</sZ><sZ>17 aut.</sZ></fA14><fA14 i1="13"><s1>Genetic Health Services Victoria, Royal Children's Hospital</s1><s2>Parkville</s2><s3>AUS</s3><sZ>12 aut.</sZ></fA14><fA20><s1>567-576</s1></fA20><fA21><s1>2006</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>27370</s2><s5>354000156776110110</s5></fA43><fA44><s0>0000</s0><s1>© 2006 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>44 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>06-0239773</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>European journal of human genetics</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for ∼20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six novel mutations (three simple deletions, two complex deletions with short insertions of 3-6 bp, and a complex deletion with a 182 bp inverted downstream sequence) were characterized by screening 274 unidentified CF chromosomes from 10 different countries. These lesions increase the total number of fully characterized large CFTR genomic rearrangements involving deletions to 21. Systematic analysis of the 42 associated breakpoints indicated that all 21 events were caused by nonhomologous recombination. Whole gene complexity analysis revealed a significant correlation between regions of low sequence complexity and the locations of the deletion breakpoints. Known recombination-promoting motifs were noted in the vicinity of the breakpoints. A total of 11 simple deletions were potentially explicable in terms of the classical model of replication slippage. However, the complex deletions appear to have arisen via multiple mechanisms; three of the five complex deletions with short insertions and both examples of large inverted insertions (299 and 182 bp, respectively) can be explained by either a model of serial replication slippage in cis (SRScis) or SRS in trans (SRStrans). Finally, the nature and distribution of large genomic rearrangements in the CFTR gene were compared and contrasted with those of two other genes, DMD and MSH2, with a view to gaining a broader understanding of DNA sequence context in mediating the diverse underlying mutational mechanisms.</s0></fC01><fC02 i1="01" i2="X"><s0>002B23A</s0></fC02><fC02 i1="02" i2="X"><s0>002B23B</s0></fC02><fC02 i1="03" i2="X"><s0>002B22D05</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Délétion</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Deletion</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Deleción</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Mucoviscidose</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Cystic fibrosis</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Mucoviscidosis</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Génomique</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Genomics</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Genómica</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Régulateur conductance transmembranaire mucoviscidose</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Cystic fibrosis transmembrane conductance regulator</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Regulator conductancia transmembrana mucoviscidosis</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Gène</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Gene</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Gen</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Caractérisation</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Characterization</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Caracterización</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Etude cohorte</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Cohort study</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Estudio cohorte</s0><s5>13</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Chromosome</s0><s5>14</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Chromosome</s0><s5>14</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Cromosoma</s0><s5>14</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Métaanalyse</s0><s5>15</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>Metaanalysis</s0><s5>15</s5></fC03><fC03 i1="09" i2="X" l="SPA"><s0>Meta-análisis</s0><s5>15</s5></fC03><fC03 i1="10" i2="X" l="FRE"><s0>Etiologie</s0><s5>17</s5></fC03><fC03 i1="10" i2="X" l="ENG"><s0>Etiology</s0><s5>17</s5></fC03><fC03 i1="10" i2="X" l="SPA"><s0>Etiología</s0><s5>17</s5></fC03><fC03 i1="11" i2="X" l="FRE"><s0>Mécanisme</s0><s5>18</s5></fC03><fC03 i1="11" i2="X" l="ENG"><s0>Mechanism</s0><s5>18</s5></fC03><fC03 i1="11" i2="X" l="SPA"><s0>Mecanismo</s0><s5>18</s5></fC03><fC03 i1="12" i2="X" l="FRE"><s0>Point cassure</s0><s5>19</s5></fC03><fC03 i1="12" i2="X" l="ENG"><s0>Breakpoint</s0><s5>19</s5></fC03><fC03 i1="12" i2="X" l="SPA"><s0>Punto ruptura</s0><s5>19</s5></fC03><fC03 i1="13" i2="X" l="FRE"><s0>Cassure chromosomique</s0><s5>20</s5></fC03><fC03 i1="13" i2="X" l="ENG"><s0>Chromosome break</s0><s5>20</s5></fC03><fC03 i1="13" i2="X" l="SPA"><s0>Ruptura cromosómica</s0><s5>20</s5></fC03><fC03 i1="14" i2="X" l="FRE"><s0>Mutation</s0><s5>21</s5></fC03><fC03 i1="14" i2="X" l="ENG"><s0>Mutation</s0><s5>21</s5></fC03><fC03 i1="14" i2="X" l="SPA"><s0>Mutación</s0><s5>21</s5></fC03><fC03 i1="15" i2="X" l="FRE"><s0>Génétique</s0><s5>22</s5></fC03><fC03 i1="15" i2="X" l="ENG"><s0>Genetics</s0><s5>22</s5></fC03><fC03 i1="15" i2="X" l="SPA"><s0>Genética</s0><s5>22</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Appareil digestif pathologie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Digestive diseases</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Aparato digestivo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Appareil respiratoire pathologie</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Respiratory disease</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Aparato respiratorio patología</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Métabolisme pathologie</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Metabolic diseases</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Metabolismo patología</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pancréas pathologie</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Pancreatic disease</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Páncreas patología</s0><s5>41</s5></fC07><fN21><s1>149</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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