Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Su...
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| Published in | American journal of human genetics Vol. 89; no. 3; pp. 398 - 406 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
09.09.2011
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. |
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| AbstractList | Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma ( EIF4G1 ). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. [PUBLICATION ABSTRACT] |
| Author | Yanagiya, Akiko Ross, Owen A. Maraganore, Demetrius M. Lockhart, Paul J. Aasly, Jan O. Wszolek, Zbigniew K. Dachsel, Justus C. Krygowska-Wajs, Anna Hentati, Faycal Hentati, Emna Williams, Lindsey Vanbesien-Mailliot, Christel Vilariño-Güell, Carles Song, Mee-Sook Uitti, Ryan J. Kreisler, Alexandre Hutchinson, Michael Nichols, William C. Zubair, Abba C. Nishioka, Kenya Frigerio, Roberta Valente, Enza Maria Gosal, David Keeling, Brett H. Kachergus, Jennifer Duflot, Aurélie Behrouz, Bahareh Gibson, Rachel A. Dickson, Dennis W. Leprêtre, Frédéric Foroud, Tatiana Tapia, Lucia Sonenberg, Nahum Farrer, Matthew J. Lynch, Tim Bentivoglio, Anna Rita Opala, Grzegorz Lincoln, Sarah J. Melrose, Heather L. Mutez, Eugénie Milnerwood, Austen J. Le Rhun, Emilie Hulihan, Mary M. Larvor, Lydie Soto-Ortolaza, Alexandra I. Destée, Alain Bacon, Justin A. Pankratz, Nathan Cobb, Stephanie A. Chartier-Harlin, Marie-Christine |
| AuthorAffiliation | 5 Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France 2 Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France 3 Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA 8 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia 9 Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL 32224, USA 16 Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland 1 Université Lille Nord de France, F-59000 Lille, France 20 Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA 14 Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland 21 Department of Medical and Molec |
| AuthorAffiliation_xml | – name: 3 Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – name: 9 Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL 32224, USA – name: 18 Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Italy – name: 6 Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences, Villeneuve d'Ascq, F-59655 France – name: 2 Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France – name: 10 Department of Neurology, St. Olav's Hospital, Trondheim N-7006, Norway – name: 14 Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland – name: 1 Université Lille Nord de France, F-59000 Lille, France – name: 16 Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland – name: 11 Department of Neurology, Collegium Medicum, Jagiellonian University, Krakow 31-358, Poland – name: 15 Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin 4, Ireland – name: 19 Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, 98124 Italy – name: 12 Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia, Katowice 40-055, Poland – name: 7 Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada – name: 4 Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada – name: 5 Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France – name: 8 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia – name: 20 Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA – name: 21 Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA – name: 22 GlaxoSmithKline Pharmaceuticals, Research and Development, Harlow, Greenford, Hammersmith CM19 5AW, UK – name: 23 Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia – name: 17 Institute of Neurology, Catholic University, Rome 00168, Italy – name: 13 Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA |
| Author_xml | – sequence: 1 givenname: Marie-Christine surname: Chartier-Harlin fullname: Chartier-Harlin, Marie-Christine organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 2 givenname: Justus C. surname: Dachsel fullname: Dachsel, Justus C. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 3 givenname: Carles surname: Vilariño-Güell fullname: Vilariño-Güell, Carles organization: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada – sequence: 4 givenname: Sarah J. surname: Lincoln fullname: Lincoln, Sarah J. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 5 givenname: Frédéric surname: Leprêtre fullname: Leprêtre, Frédéric organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 6 givenname: Mary M. surname: Hulihan fullname: Hulihan, Mary M. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 7 givenname: Jennifer surname: Kachergus fullname: Kachergus, Jennifer organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 8 givenname: Austen J. surname: Milnerwood fullname: Milnerwood, Austen J. organization: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada – sequence: 9 givenname: Lucia surname: Tapia fullname: Tapia, Lucia organization: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada – sequence: 10 givenname: Mee-Sook surname: Song fullname: Song, Mee-Sook organization: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada – sequence: 11 givenname: Emilie surname: Le Rhun fullname: Le Rhun, Emilie organization: Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France – sequence: 12 givenname: Eugénie surname: Mutez fullname: Mutez, Eugénie organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 13 givenname: Lydie surname: Larvor fullname: Larvor, Lydie organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 14 givenname: Aurélie surname: Duflot fullname: Duflot, Aurélie organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 15 givenname: Christel surname: Vanbesien-Mailliot fullname: Vanbesien-Mailliot, Christel organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 16 givenname: Alexandre surname: Kreisler fullname: Kreisler, Alexandre organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 17 givenname: Owen A. surname: Ross fullname: Ross, Owen A. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 18 givenname: Kenya surname: Nishioka fullname: Nishioka, Kenya organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 19 givenname: Alexandra I. surname: Soto-Ortolaza fullname: Soto-Ortolaza, Alexandra I. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 20 givenname: Stephanie A. surname: Cobb fullname: Cobb, Stephanie A. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 21 givenname: Heather L. surname: Melrose fullname: Melrose, Heather L. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 22 givenname: Bahareh surname: Behrouz fullname: Behrouz, Bahareh organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 23 givenname: Brett H. surname: Keeling fullname: Keeling, Brett H. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 24 givenname: Justin A. surname: Bacon fullname: Bacon, Justin A. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 25 givenname: Emna surname: Hentati fullname: Hentati, Emna organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 26 givenname: Lindsey surname: Williams fullname: Williams, Lindsey organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 27 givenname: Akiko surname: Yanagiya fullname: Yanagiya, Akiko organization: Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada – sequence: 28 givenname: Nahum surname: Sonenberg fullname: Sonenberg, Nahum organization: Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada – sequence: 29 givenname: Paul J. surname: Lockhart fullname: Lockhart, Paul J. organization: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia – sequence: 30 givenname: Abba C. surname: Zubair fullname: Zubair, Abba C. organization: Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 31 givenname: Ryan J. surname: Uitti fullname: Uitti, Ryan J. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 32 givenname: Jan O. surname: Aasly fullname: Aasly, Jan O. organization: Department of Neurology, St. Olav's Hospital, Trondheim N-7006, Norway – sequence: 33 givenname: Anna surname: Krygowska-Wajs fullname: Krygowska-Wajs, Anna organization: Department of Neurology, Collegium Medicum, Jagiellonian University, Krakow 31-358, Poland – sequence: 34 givenname: Grzegorz surname: Opala fullname: Opala, Grzegorz organization: Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia, Katowice 40-055, Poland – sequence: 35 givenname: Zbigniew K. surname: Wszolek fullname: Wszolek, Zbigniew K. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 36 givenname: Roberta surname: Frigerio fullname: Frigerio, Roberta organization: Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA – sequence: 37 givenname: Demetrius M. surname: Maraganore fullname: Maraganore, Demetrius M. organization: Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA – sequence: 38 givenname: David surname: Gosal fullname: Gosal, David organization: Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland – sequence: 39 givenname: Tim surname: Lynch fullname: Lynch, Tim organization: Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland – sequence: 40 givenname: Michael surname: Hutchinson fullname: Hutchinson, Michael organization: Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland – sequence: 41 givenname: Anna Rita surname: Bentivoglio fullname: Bentivoglio, Anna Rita organization: Institute of Neurology, Catholic University, Rome 00168, Italy – sequence: 42 givenname: Enza Maria surname: Valente fullname: Valente, Enza Maria organization: Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Italy – sequence: 43 givenname: William C. surname: Nichols fullname: Nichols, William C. organization: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA – sequence: 44 givenname: Nathan surname: Pankratz fullname: Pankratz, Nathan organization: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA – sequence: 45 givenname: Tatiana surname: Foroud fullname: Foroud, Tatiana organization: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA – sequence: 46 givenname: Rachel A. surname: Gibson fullname: Gibson, Rachel A. organization: GlaxoSmithKline Pharmaceuticals, Research and Development, Harlow, Greenford, Hammersmith CM19 5AW, UK – sequence: 47 givenname: Faycal surname: Hentati fullname: Hentati, Faycal organization: Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia – sequence: 48 givenname: Dennis W. surname: Dickson fullname: Dickson, Dennis W. organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA – sequence: 49 givenname: Alain surname: Destée fullname: Destée, Alain organization: Université Lille Nord de France, F-59000 Lille, France – sequence: 50 givenname: Matthew J. surname: Farrer fullname: Farrer, Matthew J. email: mfarrer@can.ubc.ca organization: Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA |
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| Keywords | Human Nervous system diseases Familial disease Initiator Central nervous system disease Parkinson disease Genetics Degenerative disease Mutation Cerebral disorder Extrapyramidal syndrome |
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| SubjectTerms | Base Sequence Binding sites Biological and medical sciences Chromosomes Chromosomes, Human, Pair 3 - genetics Cloning, Molecular Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Copy Number Variations DNA Mutational Analysis Eukaryotic Initiation Factor-4G - genetics Flow Cytometry Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Linkage Genetics of eukaryotes. Biological and molecular evolution Genotype Genotype & phenotype Humans Immunoprecipitation Medical genetics Medical sciences Mitochondria - physiology Molecular and cellular biology Molecular Sequence Data Mutation Mutation, Missense - genetics Neurology Parkinson Disease - genetics Parkinson's disease Pedigree Protein Biosynthesis - genetics Proteins |
| Title | Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease |
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