Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression
Identifieur interne : 000425 ( France/Analysis ); précédent : 000424; suivant : 000426Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression
Auteurs : Elisa Giorgio [Italie] ; Harshvardhan Rolyan [États-Unis] ; Laura Kropp [États-Unis] ; Anish Baswanth Chakka [États-Unis] ; Svetlana Yatsenko [États-Unis] ; Eleonora Di Gregorio [Italie] ; Daniela Lacerenza [Italie] ; Giovanna Vaula [Italie] ; Flavia Talarico [Italie] ; Paola Mandich [Italie] ; Camilo Toro ; Eleonore Eymard Pierre [France] ; Pierre Labauge [France] ; Sabina Capellari [Italie] ; Pietro Cortelli [Italie] ; Filippo Pinto Vairo [Brésil] ; Diego Miguel [Brésil] ; Danielle Stubbolo ; Lourenco Charles Marques [Brésil] ; William Gahl ; Odile Boespflug-Tanguy [France] ; Atle Melberg [Suède] ; Sharon Hassin-Baer [Israël] ; Oren S. Cohen [Israël] ; Rastislav Pjontek [Allemagne] ; Armin Grau [Allemagne] ; Thomas Klopstock [Allemagne] ; Brent Fogel [États-Unis] ; Inge Meijer [Canada] ; Guy Rouleau [Canada] ; Jean-Pierre L. Bouchard [Canada] ; Madhavi Ganapathiraju [États-Unis] ; Adeline Vanderver [États-Unis] ; Niklas Dahl [Suède] ; Grace Hobson [États-Unis] ; Alfredo Brusco [Italie, États-Unis] ; Alessandro Brussino [Italie] ; Quasar Saleem Padiath [États-Unis]Source :
- Human Mutation [ 1059-7794 ] ; 2013-08.
Descripteurs français
- Wicri :
- topic : Génétique, Neurologie.
English descriptors
- KwdEn :
- Acgh, Adld, Adld duplications, Adld families, Adld patients, Allele, Assay, Autonomic symptoms, Autosomal, Breakpoint, Breakpoints, Carvalho, Cdna, Centromeric, Centromeric breakpoints, Chromosome, Common founder, Control samples, Control sequences, Cytogenet genome, Deletion, Developmental delay, Duplication, Duplication breakpoints, Duplication junction sequences, Duplication junctions, Exact test, Expression analysis, Fostesmmbir, Fostesmmbir nhej, Gene, Genet, Genetics, Genome, Genomic, Genomic architecture, Genomic rearrangements, Genomic region, Haplotype, Human mutation, Identical duplications, Important role, Insertion, Inverted, Inverted duplication, Junction, Lamin, Largest collection, Leukodystrophy, Lmnb1, Lmnb1 alleles, Lmnb1 duplication, Lmnb1 duplications, Lmnb1 expression, Lmnb1 gene, Lupski, Mecp2, Microhomology, Microsatellite markers, Mutation, Neurology, Nhej, Nucleotide, Padiath, Previous reports, Primer, Protein levels, Rearrangement, Reference sequence, Repetitive, Repetitive elements, Replication, Replication fork, Replication mechanism, Same haplotype, Sequence identity, Supp, Tandem, Tandem duplications, Telomeric, Telomeric breakpoints, Telomeric duplication breakpoints, Triplication, Triplication junction, Vissers, Zhang.
- Teeft :
- Acgh, Adld, Adld duplications, Adld families, Adld patients, Allele, Assay, Autonomic symptoms, Autosomal, Breakpoint, Breakpoints, Carvalho, Cdna, Centromeric, Centromeric breakpoints, Chromosome, Common founder, Control samples, Control sequences, Cytogenet genome, Deletion, Developmental delay, Duplication, Duplication breakpoints, Duplication junction sequences, Duplication junctions, Exact test, Expression analysis, Fostesmmbir, Fostesmmbir nhej, Gene, Genet, Genetics, Genome, Genomic, Genomic architecture, Genomic rearrangements, Genomic region, Haplotype, Human mutation, Identical duplications, Important role, Insertion, Inverted, Inverted duplication, Junction, Lamin, Largest collection, Leukodystrophy, Lmnb1, Lmnb1 alleles, Lmnb1 duplication, Lmnb1 duplications, Lmnb1 expression, Lmnb1 gene, Lupski, Mecp2, Microhomology, Microsatellite markers, Mutation, Neurology, Nhej, Nucleotide, Padiath, Previous reports, Primer, Protein levels, Rearrangement, Reference sequence, Repetitive, Repetitive elements, Replication, Replication fork, Replication mechanism, Same haplotype, Sequence identity, Supp, Tandem, Tandem duplications, Telomeric, Telomeric breakpoints, Telomeric duplication breakpoints, Triplication, Triplication junction, Vissers, Zhang.
Abstract
Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication‐based mechanisms such fork stalling and template switching or microhomology‐mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients’ fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele‐specific LMNB1 expression levels.
Url:
DOI: 10.1002/humu.22348
Affiliations:
- Allemagne, Brésil, Canada, France, Israël, Italie, Suède, États-Unis
- Bade-Wurtemberg, Bavière, Californie, Delaware, District de Haute-Bavière, District de Karlsruhe, East Middle Sweden, Languedoc-Roussillon, Occitanie (région administrative), Pennsylvanie, Piémont, Québec, Rio Grande do Sul, Svealand, Washington (État), État de São Paulo, Île-de-France
- Heidelberg, Los Angeles, Montréal, Munich, Nîmes, Paris, Philadelphie, Pittsburgh, Porto Alegre, São Paulo, Turin, Uppsala
- Université McGill, Université d'Uppsala, Université de São Paulo, Université fédérale du Rio Grande do Sul
Links toward previous steps (curation, corpus...)
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- to stream Main, to step Merge: 006561
- to stream Main, to step Curation: 006215
- to stream Main, to step Exploration: 006215
- to stream France, to step Extraction: 000425
Links to Exploration step
ISTEX:FF984ED02B7ECC5D62E788B130A31802E94A20DBLe document en format XML
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wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Kropp, Laura" sort="Kropp, Laura" uniqKey="Kropp L" first="Laura" last="Kropp">Laura Kropp</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Chakka, Anish Baswanth" sort="Chakka, Anish Baswanth" uniqKey="Chakka A" first="Anish Baswanth" last="Chakka">Anish Baswanth Chakka</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Biomedical Informatics, School of Medicine, University of Pittsburgh, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Yatsenko, Svetlana" sort="Yatsenko, Svetlana" uniqKey="Yatsenko S" first="Svetlana" last="Yatsenko">Svetlana Yatsenko</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh</wicri:cityArea></affiliation><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Pathology, University of Pittsburgh, School of Medicine, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Gregorio, Eleonora Di" sort="Gregorio, Eleonora Di" uniqKey="Gregorio E" first="Eleonora Di" last="Gregorio">Eleonora Di Gregorio</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>University of Torino, Department of Medical Sciences, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>S.C.D.U. Medical Genetics, Az. Osp. Città della Salute e della Scienza, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Lacerenza, Daniela" sort="Lacerenza, Daniela" uniqKey="Lacerenza D" first="Daniela" last="Lacerenza">Daniela Lacerenza</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>University of Torino, Department of Medical Sciences, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Vaula, Giovanna" sort="Vaula, Giovanna" uniqKey="Vaula G" first="Giovanna" last="Vaula">Giovanna Vaula</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience, Az. Osp. Città della Salute e della Scienza, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Talarico, Flavia" sort="Talarico, Flavia" uniqKey="Talarico F" first="Flavia" last="Talarico">Flavia Talarico</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>S.C.D.U. Medical Genetics, Az. Osp. Città della Salute e della Scienza, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Mandich, Paola" sort="Mandich, Paola" uniqKey="Mandich P" first="Paola" last="Mandich">Paola Mandich</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Ophthalmology and Genetics, di Bologna, Department of Biomedical and NeuroMotor Sciences (DIBINEM) Alma Mater Studiorum, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Toro, Camilo" sort="Toro, Camilo" uniqKey="Toro C" first="Camilo" last="Toro">Camilo Toro</name><affiliation><wicri:noCountry code="subField">Bethesda</wicri:noCountry></affiliation></author><author><name sortKey="Pierre, Eleonore Eymard" sort="Pierre, Eleonore Eymard" uniqKey="Pierre E" first="Eleonore Eymard" last="Pierre">Eleonore Eymard Pierre</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU de Clermont‐Ferrand, Department of Genetics and Cytogenetics</wicri:regionArea><wicri:noRegion>Department of Genetics and Cytogenetics</wicri:noRegion><wicri:noRegion>Department of Genetics and Cytogenetics</wicri:noRegion></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Neurologie, Hopital Caremeau, Centre Hospitalo‐Universitaire de Nimes, Nimes</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Nîmes</settlement></placeName></affiliation></author><author><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>University of Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum</wicri:regionArea><wicri:noRegion>Alma Mater Studiorum</wicri:noRegion></affiliation></author><author><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>University of Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum</wicri:regionArea><wicri:noRegion>Alma Mater Studiorum</wicri:noRegion></affiliation></author><author><name sortKey="Vairo, Filippo Pinto" sort="Vairo, Filippo Pinto" uniqKey="Vairo F" first="Filippo Pinto" last="Vairo">Filippo Pinto Vairo</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital de Clínicas de Porto Alegre & Universidade Federal do Rio Grande do Sul, Porto Alegre</wicri:regionArea><placeName><settlement type="city">Porto Alegre</settlement><region type="state">Rio Grande do Sul</region><settlement type="city">Porto Alegre</settlement></placeName><orgName type="university">Université fédérale du Rio Grande do Sul</orgName></affiliation></author><author><name sortKey="Miguel, Diego" sort="Miguel, Diego" uniqKey="Miguel D" first="Diego" last="Miguel">Diego Miguel</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital de Clínicas de Porto Alegre & Universidade Federal do Rio Grande do Sul, Porto Alegre</wicri:regionArea><placeName><settlement type="city">Porto Alegre</settlement><region type="state">Rio Grande do Sul</region><settlement type="city">Porto Alegre</settlement></placeName><orgName type="university">Université fédérale du Rio Grande do Sul</orgName></affiliation></author><author><name sortKey="Stubbolo, Danielle" sort="Stubbolo, Danielle" uniqKey="Stubbolo D" first="Danielle" last="Stubbolo">Danielle Stubbolo</name><affiliation><wicri:noCountry code="subField">Wilmington</wicri:noCountry></affiliation></author><author><name sortKey="Marques, Lourenco Charles" sort="Marques, Lourenco Charles" uniqKey="Marques L" first="Lourenco Charles" last="Marques">Lourenco Charles Marques</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Medical Genetics, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Gahl, William" sort="Gahl, William" uniqKey="Gahl W" first="William" last="Gahl">William Gahl</name><affiliation><wicri:noCountry code="subField">Bethesda</wicri:noCountry></affiliation></author><author><name sortKey="Boespflug Anguy, Odile" sort="Boespflug Anguy, Odile" uniqKey="Boespflug Anguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale (INSERM) – Paris Diderot Sorbonne Paris Cité University, Robert Debré Hospital, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique des Hopitaux de Paris, Reference Center for Rare Diseases “Leukodystrophies”, Child Neurology and Metabolic Disorders Department, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Melberg, Atle" sort="Melberg, Atle" uniqKey="Melberg A" first="Atle" last="Melberg">Atle Melberg</name><affiliation wicri:level="4"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neuroscience, Neurology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's disease and Movement Disorders Clinic, Department of Neurology, Chaim Sheba Medical Center, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's disease and Movement Disorders Clinic, Department of Neurology, Chaim Sheba Medical Center, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Pjontek, Rastislav" sort="Pjontek, Rastislav" uniqKey="Pjontek R" first="Rastislav" last="Pjontek">Rastislav Pjontek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Grau, Armin" sort="Grau, Armin" uniqKey="Grau A" first="Armin" last="Grau">Armin Grau</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Dept. of Neurology, Klinikum Ludwigshafen, Ludwigshafen</wicri:regionArea><wicri:noRegion>Ludwigshafen</wicri:noRegion><wicri:noRegion>Ludwigshafen</wicri:noRegion></affiliation></author><author><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Dept. of Neurology, Friedrich‐Baur‐Institute, Ludwig‐Maximilians‐University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Center for Vertigo and Balance Disorders, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>DZNE – German Center for Neurodegenerative Diseases, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>German Network for Mitochondrial Disorders, (mitoNET)</wicri:regionArea><wicri:noRegion>(mitoNET)</wicri:noRegion><wicri:noRegion>(mitoNET)</wicri:noRegion></affiliation></author><author><name sortKey="Fogel, Brent" sort="Fogel, Brent" uniqKey="Fogel B" first="Brent" last="Fogel">Brent Fogel</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Department of Neurology, David Geffen School of Medicine, University of California, California</wicri:orgArea></affiliation></author><author><name sortKey="Meijer, Inge" sort="Meijer, Inge" uniqKey="Meijer I" first="Inge" last="Meijer">Inge Meijer</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montreal</wicri:regionArea><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region><settlement type="city">Montréal</settlement></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montreal</wicri:regionArea><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region><settlement type="city">Montréal</settlement></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Bouchard, Jean Ierre L" sort="Bouchard, Jean Ierre L" uniqKey="Bouchard J" first="Jean-Pierre L." last="Bouchard">Jean-Pierre L. Bouchard</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Neurological Sciences, CHA – Hôpital de l'Enfant‐Jésus, Quebec City</wicri:regionArea><wicri:noRegion>Quebec City</wicri:noRegion></affiliation></author><author><name sortKey="Ganapathiraju, Madhavi" sort="Ganapathiraju, Madhavi" uniqKey="Ganapathiraju M" first="Madhavi" last="Ganapathiraju">Madhavi Ganapathiraju</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Biomedical Informatics, School of Medicine, University of Pittsburgh, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Neurology, Childrens National Medical Center, District of Columbia</wicri:cityArea></affiliation></author><author><name sortKey="Dahl, Niklas" sort="Dahl, Niklas" uniqKey="Dahl N" first="Niklas" last="Dahl">Niklas Dahl</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Dept. of Immunology, Genetics and Pathology, Section of Clinical Genetics, The Rudbeck laboratory, Uppsala University Children's Hospital, Uppsala</wicri:regionArea><wicri:noRegion>Uppsala</wicri:noRegion></affiliation></author><author><name sortKey="Hobson, Grace" sort="Hobson, Grace" uniqKey="Hobson G" first="Grace" last="Hobson">Grace Hobson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Delaware</region></placeName><wicri:cityArea>Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Delaware</region></placeName><wicri:cityArea>University of Delaware, Department of Biology, Newark</wicri:cityArea></affiliation><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Thomas Jefferson University, Jefferson Medical College, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>University of Torino, Department of Medical Sciences, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>S.C.D.U. Medical Genetics, Az. Osp. Città della Salute e della Scienza, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author><author><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>University of Torino, Department of Medical Sciences, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Padiath, Quasar Saleem" sort="Padiath, Quasar Saleem" uniqKey="Padiath Q" first="Quasar Saleem" last="Padiath">Quasar Saleem Padiath</name><affiliation wicri:level="3"><country>États-Unis</country><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania</wicri:orgArea></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">34</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1160">1160</biblScope><biblScope unit="page" to="1171">1171</biblScope><biblScope unit="page-count">12</biblScope><date type="published" when="2013-08">2013-08</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acgh</term><term>Adld</term><term>Adld duplications</term><term>Adld families</term><term>Adld patients</term><term>Allele</term><term>Assay</term><term>Autonomic symptoms</term><term>Autosomal</term><term>Breakpoint</term><term>Breakpoints</term><term>Carvalho</term><term>Cdna</term><term>Centromeric</term><term>Centromeric breakpoints</term><term>Chromosome</term><term>Common founder</term><term>Control samples</term><term>Control sequences</term><term>Cytogenet genome</term><term>Deletion</term><term>Developmental delay</term><term>Duplication</term><term>Duplication breakpoints</term><term>Duplication junction sequences</term><term>Duplication junctions</term><term>Exact test</term><term>Expression analysis</term><term>Fostesmmbir</term><term>Fostesmmbir nhej</term><term>Gene</term><term>Genet</term><term>Genetics</term><term>Genome</term><term>Genomic</term><term>Genomic architecture</term><term>Genomic rearrangements</term><term>Genomic region</term><term>Haplotype</term><term>Human mutation</term><term>Identical duplications</term><term>Important role</term><term>Insertion</term><term>Inverted</term><term>Inverted duplication</term><term>Junction</term><term>Lamin</term><term>Largest collection</term><term>Leukodystrophy</term><term>Lmnb1</term><term>Lmnb1 alleles</term><term>Lmnb1 duplication</term><term>Lmnb1 duplications</term><term>Lmnb1 expression</term><term>Lmnb1 gene</term><term>Lupski</term><term>Mecp2</term><term>Microhomology</term><term>Microsatellite markers</term><term>Mutation</term><term>Neurology</term><term>Nhej</term><term>Nucleotide</term><term>Padiath</term><term>Previous reports</term><term>Primer</term><term>Protein levels</term><term>Rearrangement</term><term>Reference sequence</term><term>Repetitive</term><term>Repetitive elements</term><term>Replication</term><term>Replication fork</term><term>Replication mechanism</term><term>Same haplotype</term><term>Sequence identity</term><term>Supp</term><term>Tandem</term><term>Tandem duplications</term><term>Telomeric</term><term>Telomeric breakpoints</term><term>Telomeric duplication breakpoints</term><term>Triplication</term><term>Triplication junction</term><term>Vissers</term><term>Zhang</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Acgh</term><term>Adld</term><term>Adld duplications</term><term>Adld families</term><term>Adld patients</term><term>Allele</term><term>Assay</term><term>Autonomic symptoms</term><term>Autosomal</term><term>Breakpoint</term><term>Breakpoints</term><term>Carvalho</term><term>Cdna</term><term>Centromeric</term><term>Centromeric breakpoints</term><term>Chromosome</term><term>Common founder</term><term>Control samples</term><term>Control sequences</term><term>Cytogenet genome</term><term>Deletion</term><term>Developmental delay</term><term>Duplication</term><term>Duplication breakpoints</term><term>Duplication junction sequences</term><term>Duplication junctions</term><term>Exact test</term><term>Expression analysis</term><term>Fostesmmbir</term><term>Fostesmmbir nhej</term><term>Gene</term><term>Genet</term><term>Genetics</term><term>Genome</term><term>Genomic</term><term>Genomic architecture</term><term>Genomic rearrangements</term><term>Genomic region</term><term>Haplotype</term><term>Human mutation</term><term>Identical duplications</term><term>Important role</term><term>Insertion</term><term>Inverted</term><term>Inverted duplication</term><term>Junction</term><term>Lamin</term><term>Largest collection</term><term>Leukodystrophy</term><term>Lmnb1</term><term>Lmnb1 alleles</term><term>Lmnb1 duplication</term><term>Lmnb1 duplications</term><term>Lmnb1 expression</term><term>Lmnb1 gene</term><term>Lupski</term><term>Mecp2</term><term>Microhomology</term><term>Microsatellite markers</term><term>Mutation</term><term>Neurology</term><term>Nhej</term><term>Nucleotide</term><term>Padiath</term><term>Previous reports</term><term>Primer</term><term>Protein levels</term><term>Rearrangement</term><term>Reference sequence</term><term>Repetitive</term><term>Repetitive elements</term><term>Replication</term><term>Replication fork</term><term>Replication mechanism</term><term>Same haplotype</term><term>Sequence identity</term><term>Supp</term><term>Tandem</term><term>Tandem duplications</term><term>Telomeric</term><term>Telomeric breakpoints</term><term>Telomeric duplication breakpoints</term><term>Triplication</term><term>Triplication junction</term><term>Vissers</term><term>Zhang</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Neurologie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication‐based mechanisms such fork stalling and template switching or microhomology‐mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients’ fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele‐specific LMNB1 expression levels.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Brésil</li><li>Canada</li><li>France</li><li>Israël</li><li>Italie</li><li>Suède</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>Californie</li><li>Delaware</li><li>District de Haute-Bavière</li><li>District de Karlsruhe</li><li>East Middle Sweden</li><li>Languedoc-Roussillon</li><li>Occitanie (région administrative)</li><li>Pennsylvanie</li><li>Piémont</li><li>Québec</li><li>Rio Grande do Sul</li><li>Svealand</li><li>Washington (État)</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Heidelberg</li><li>Los Angeles</li><li>Montréal</li><li>Munich</li><li>Nîmes</li><li>Paris</li><li>Philadelphie</li><li>Pittsburgh</li><li>Porto Alegre</li><li>São Paulo</li><li>Turin</li><li>Uppsala</li></settlement><orgName><li>Université McGill</li><li>Université d'Uppsala</li><li>Université de São Paulo</li><li>Université fédérale du Rio Grande do Sul</li></orgName></list><tree><noCountry><name sortKey="Gahl, William" sort="Gahl, William" uniqKey="Gahl W" first="William" last="Gahl">William Gahl</name><name sortKey="Stubbolo, Danielle" sort="Stubbolo, Danielle" uniqKey="Stubbolo D" first="Danielle" last="Stubbolo">Danielle Stubbolo</name><name sortKey="Toro, Camilo" sort="Toro, Camilo" uniqKey="Toro C" first="Camilo" last="Toro">Camilo Toro</name></noCountry><country name="Italie"><region name="Piémont"><name sortKey="Giorgio, Elisa" sort="Giorgio, Elisa" uniqKey="Giorgio E" first="Elisa" last="Giorgio">Elisa Giorgio</name></region><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name><name sortKey="Gregorio, Eleonora Di" sort="Gregorio, Eleonora Di" uniqKey="Gregorio E" first="Eleonora Di" last="Gregorio">Eleonora Di Gregorio</name><name sortKey="Gregorio, Eleonora Di" sort="Gregorio, Eleonora Di" uniqKey="Gregorio E" first="Eleonora Di" last="Gregorio">Eleonora Di Gregorio</name><name sortKey="Lacerenza, Daniela" sort="Lacerenza, Daniela" uniqKey="Lacerenza D" first="Daniela" last="Lacerenza">Daniela Lacerenza</name><name sortKey="Mandich, Paola" sort="Mandich, Paola" uniqKey="Mandich P" first="Paola" last="Mandich">Paola Mandich</name><name sortKey="Talarico, Flavia" sort="Talarico, Flavia" uniqKey="Talarico F" first="Flavia" last="Talarico">Flavia Talarico</name><name sortKey="Vaula, Giovanna" sort="Vaula, Giovanna" uniqKey="Vaula G" first="Giovanna" last="Vaula">Giovanna Vaula</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Rolyan, Harshvardhan" sort="Rolyan, Harshvardhan" uniqKey="Rolyan H" first="Harshvardhan" last="Rolyan">Harshvardhan Rolyan</name></region><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name><name sortKey="Chakka, Anish Baswanth" sort="Chakka, Anish Baswanth" uniqKey="Chakka A" first="Anish Baswanth" last="Chakka">Anish Baswanth Chakka</name><name sortKey="Fogel, Brent" sort="Fogel, Brent" uniqKey="Fogel B" first="Brent" last="Fogel">Brent Fogel</name><name sortKey="Ganapathiraju, Madhavi" sort="Ganapathiraju, Madhavi" uniqKey="Ganapathiraju M" first="Madhavi" last="Ganapathiraju">Madhavi Ganapathiraju</name><name sortKey="Hobson, Grace" sort="Hobson, Grace" uniqKey="Hobson G" first="Grace" last="Hobson">Grace Hobson</name><name sortKey="Hobson, Grace" sort="Hobson, Grace" uniqKey="Hobson G" first="Grace" last="Hobson">Grace Hobson</name><name sortKey="Hobson, Grace" sort="Hobson, Grace" uniqKey="Hobson G" first="Grace" last="Hobson">Grace Hobson</name><name sortKey="Kropp, Laura" sort="Kropp, Laura" uniqKey="Kropp L" first="Laura" last="Kropp">Laura Kropp</name><name sortKey="Padiath, Quasar Saleem" sort="Padiath, Quasar Saleem" uniqKey="Padiath Q" first="Quasar Saleem" last="Padiath">Quasar Saleem Padiath</name><name sortKey="Padiath, Quasar Saleem" sort="Padiath, Quasar Saleem" uniqKey="Padiath Q" first="Quasar Saleem" last="Padiath">Quasar Saleem Padiath</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><name sortKey="Yatsenko, Svetlana" sort="Yatsenko, Svetlana" uniqKey="Yatsenko S" first="Svetlana" last="Yatsenko">Svetlana Yatsenko</name><name sortKey="Yatsenko, Svetlana" sort="Yatsenko, Svetlana" uniqKey="Yatsenko S" first="Svetlana" last="Yatsenko">Svetlana Yatsenko</name></country><country name="France"><noRegion><name sortKey="Pierre, Eleonore Eymard" sort="Pierre, Eleonore Eymard" uniqKey="Pierre E" first="Eleonore Eymard" last="Pierre">Eleonore Eymard Pierre</name></noRegion><name sortKey="Boespflug Anguy, Odile" sort="Boespflug Anguy, Odile" uniqKey="Boespflug Anguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name><name sortKey="Boespflug Anguy, Odile" sort="Boespflug Anguy, Odile" uniqKey="Boespflug Anguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name></country><country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Vairo, Filippo Pinto" sort="Vairo, Filippo Pinto" uniqKey="Vairo F" first="Filippo Pinto" last="Vairo">Filippo Pinto Vairo</name></region><name sortKey="Marques, Lourenco Charles" sort="Marques, Lourenco Charles" uniqKey="Marques L" first="Lourenco Charles" last="Marques">Lourenco Charles Marques</name><name sortKey="Miguel, Diego" sort="Miguel, Diego" uniqKey="Miguel D" first="Diego" last="Miguel">Diego Miguel</name></country><country name="Suède"><region name="Svealand"><name sortKey="Melberg, Atle" sort="Melberg, Atle" uniqKey="Melberg A" first="Atle" last="Melberg">Atle Melberg</name></region><name sortKey="Dahl, Niklas" sort="Dahl, Niklas" uniqKey="Dahl N" first="Niklas" last="Dahl">Niklas Dahl</name></country><country name="Israël"><noRegion><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></noRegion><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Pjontek, Rastislav" sort="Pjontek, Rastislav" uniqKey="Pjontek R" first="Rastislav" last="Pjontek">Rastislav Pjontek</name></region><name sortKey="Grau, Armin" sort="Grau, Armin" uniqKey="Grau A" first="Armin" last="Grau">Armin Grau</name><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name><name sortKey="Klopstock, Thomas" sort="Klopstock, Thomas" uniqKey="Klopstock T" first="Thomas" last="Klopstock">Thomas Klopstock</name></country><country name="Canada"><region name="Québec"><name sortKey="Meijer, Inge" sort="Meijer, Inge" uniqKey="Meijer I" first="Inge" last="Meijer">Inge Meijer</name></region><name sortKey="Bouchard, Jean Ierre L" sort="Bouchard, Jean Ierre L" uniqKey="Bouchard J" first="Jean-Pierre L." last="Bouchard">Jean-Pierre L. Bouchard</name><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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