Translation initiator EIF4G1 mutations in familial Parkinson disease

M Chartier Harlin; Jc Dachsel; C Vilariño Güell; Sj Lincoln; F Leprêtre; Mm Hulihan; J Kachergus; Aj Milnerwood; L Tapia; M Song; E Le Rhun; E Mutez; L Larvor; A Duflot; C Vanbesien Mailliot; A Kreisler; Oa Ross; K Nishioka; Ai Soto Ortolaza; Sa Cobb; Hl Melrose; B Behrouz; Bh Keeling; Ja Bacon; E Hentati; L Williams; A Yanagiya; N Sonenberg; Pj Lockhart; Ac Zubair; Rj Uitti; Jo Aasly; A Krygowska Wajs; G Opala; Zk Wszolek; R Frigerio; Dm Maraganore; D Gosal; T Lynch; M Hutchinson; Anna Rita Bentivoglio; Enza Maria Valente; Wc Nichols; N Pankratz; T Foroud; Ra Gibson; F Hentati; Dw Dickson; A Destée; Mj Farrer

doi:10.1016/j.ajhg.2011.08.009

Translation initiator EIF4G1 mutations in familial Parkinson disease

M Chartier Harlin, Jc Dachsel, C Vilariño Güell, Sj Lincoln, F Leprêtre, Mm Hulihan, J Kachergus, Aj Milnerwood, L Tapia, M Song, E Le Rhun, E Mutez, L Larvor, A Duflot, C Vanbesien Mailliot, A Kreisler, Oa Ross, K Nishioka, Ai Soto Ortolaza, Sa CobbHl Melrose, B Behrouz, Bh Keeling, Ja Bacon, E Hentati, L Williams, A Yanagiya, N Sonenberg, Pj Lockhart, Ac Zubair, Rj Uitti, Jo Aasly, A Krygowska Wajs, G Opala, Zk Wszolek, R Frigerio, Dm Maraganore, D Gosal, T Lynch, M Hutchinson, Anna Rita Bentivoglio, Enza Maria Valente, Wc Nichols, N Pankratz, T Foroud, Ra Gibson, F Hentati, Dw Dickson, A Destée, Mj Farrer

Risultato della ricerca: Contributo in rivista › Articolo in rivista

191 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	398-406
Numero di pagine	9
Rivista	American Journal of Human Genetics
Volume	89
DOI	https://doi.org/10.1016/j.ajhg.2011.08.009
Stato di pubblicazione	Pubblicato - 2011

Keywords

Base Sequence
Chromosomes, Human, Pair 3
Cloning, Molecular
DNA Copy Number Variations
DNA Mutational Analysis
Eukaryotic Initiation Factor-4G
Flow Cytometry
Genetic Linkage
Genotype
Humans
Immunoprecipitation
Mitochondria
Molecular Sequence Data
Mutation, Missense
Parkinson Disease
Pedigree
Protein Biosynthesis

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Chartier Harlin, M., Dachsel, J., Vilariño Güell, C., Lincoln, S., Leprêtre, F., Hulihan, M., Kachergus, J., Milnerwood, A., Tapia, L., Song, M., Le Rhun, E., Mutez, E., Larvor, L., Duflot, A., Vanbesien Mailliot, C., Kreisler, A., Ross, O., Nishioka, K., Soto Ortolaza, A., ... Farrer, M. (2011). Translation initiator EIF4G1 mutations in familial Parkinson disease. American Journal of Human Genetics, 89, 398-406. https://doi.org/10.1016/j.ajhg.2011.08.009

@article{c1f2ea98ba8e4d8d8ef491255c40505b,

title = "Translation initiator EIF4G1 mutations in familial Parkinson disease",

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.",

keywords = "Base Sequence, Chromosomes, Human, Pair 3, Cloning, Molecular, DNA Copy Number Variations, DNA Mutational Analysis, Eukaryotic Initiation Factor-4G, Flow Cytometry, Genetic Linkage, Genotype, Humans, Immunoprecipitation, Mitochondria, Molecular Sequence Data, Mutation, Missense, Parkinson Disease, Pedigree, Protein Biosynthesis, Base Sequence, Chromosomes, Human, Pair 3, Cloning, Molecular, DNA Copy Number Variations, DNA Mutational Analysis, Eukaryotic Initiation Factor-4G, Flow Cytometry, Genetic Linkage, Genotype, Humans, Immunoprecipitation, Mitochondria, Molecular Sequence Data, Mutation, Missense, Parkinson Disease, Pedigree, Protein Biosynthesis",

author = "{Chartier Harlin}, M and Jc Dachsel and {Vilari{\~n}o G{\"u}ell}, C and Sj Lincoln and F Lepr{\^e}tre and Mm Hulihan and J Kachergus and Aj Milnerwood and L Tapia and M Song and {Le Rhun}, E and E Mutez and L Larvor and A Duflot and {Vanbesien Mailliot}, C and A Kreisler and Oa Ross and K Nishioka and {Soto Ortolaza}, Ai and Sa Cobb and Hl Melrose and B Behrouz and Bh Keeling and Ja Bacon and E Hentati and L Williams and A Yanagiya and N Sonenberg and Pj Lockhart and Ac Zubair and Rj Uitti and Jo Aasly and {Krygowska Wajs}, A and G Opala and Zk Wszolek and R Frigerio and Dm Maraganore and D Gosal and T Lynch and M Hutchinson and Bentivoglio, {Anna Rita} and Valente, {Enza Maria} and Wc Nichols and N Pankratz and T Foroud and Ra Gibson and F Hentati and Dw Dickson and A Dest{\'e}e and Mj Farrer",

year = "2011",

doi = "10.1016/j.ajhg.2011.08.009",

language = "English",

volume = "89",

pages = "398--406",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

Chartier Harlin, M, Dachsel, J, Vilariño Güell, C, Lincoln, S, Leprêtre, F, Hulihan, M, Kachergus, J, Milnerwood, A, Tapia, L, Song, M, Le Rhun, E, Mutez, E, Larvor, L, Duflot, A, Vanbesien Mailliot, C, Kreisler, A, Ross, O, Nishioka, K, Soto Ortolaza, A, Cobb, S, Melrose, H, Behrouz, B, Keeling, B, Bacon, J, Hentati, E, Williams, L, Yanagiya, A, Sonenberg, N, Lockhart, P, Zubair, A, Uitti, R, Aasly, J, Krygowska Wajs, A, Opala, G, Wszolek, Z, Frigerio, R, Maraganore, D, Gosal, D, Lynch, T, Hutchinson, M, Bentivoglio, AR, Valente, EM, Nichols, W, Pankratz, N, Foroud, T, Gibson, R, Hentati, F, Dickson, D, Destée, A & Farrer, M 2011, 'Translation initiator EIF4G1 mutations in familial Parkinson disease', American Journal of Human Genetics, vol. 89, pagg. 398-406. https://doi.org/10.1016/j.ajhg.2011.08.009

TY - JOUR

T1 - Translation initiator EIF4G1 mutations in familial Parkinson disease

AU - Chartier Harlin, M

AU - Dachsel, Jc

AU - Vilariño Güell, C

AU - Lincoln, Sj

AU - Leprêtre, F

AU - Hulihan, Mm

AU - Kachergus, J

AU - Milnerwood, Aj

AU - Tapia, L

AU - Song, M

AU - Le Rhun, E

AU - Mutez, E

AU - Larvor, L

AU - Duflot, A

AU - Vanbesien Mailliot, C

AU - Kreisler, A

AU - Ross, Oa

AU - Nishioka, K

AU - Soto Ortolaza, Ai

AU - Cobb, Sa

AU - Melrose, Hl

AU - Behrouz, B

AU - Keeling, Bh

AU - Bacon, Ja

AU - Hentati, E

AU - Williams, L

AU - Yanagiya, A

AU - Sonenberg, N

AU - Lockhart, Pj

AU - Zubair, Ac

AU - Uitti, Rj

AU - Aasly, Jo

AU - Krygowska Wajs, A

AU - Opala, G

AU - Wszolek, Zk

AU - Frigerio, R

AU - Maraganore, Dm

AU - Gosal, D

AU - Lynch, T

AU - Hutchinson, M

AU - Bentivoglio, Anna Rita

AU - Valente, Enza Maria

AU - Nichols, Wc

AU - Pankratz, N

AU - Foroud, T

AU - Gibson, Ra

AU - Hentati, F

AU - Dickson, Dw

AU - Destée, A

AU - Farrer, Mj

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Base Sequence

KW - Chromosomes, Human, Pair 3

KW - Cloning, Molecular

KW - DNA Copy Number Variations

KW - DNA Mutational Analysis

KW - Eukaryotic Initiation Factor-4G

KW - Flow Cytometry

KW - Genetic Linkage

KW - Genotype

KW - Humans

KW - Immunoprecipitation

KW - Mitochondria

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Parkinson Disease

KW - Pedigree

KW - Protein Biosynthesis

KW - Base Sequence

KW - Chromosomes, Human, Pair 3

KW - Cloning, Molecular

KW - DNA Copy Number Variations

KW - DNA Mutational Analysis

KW - Eukaryotic Initiation Factor-4G

KW - Flow Cytometry

KW - Genetic Linkage

KW - Genotype

KW - Humans

KW - Immunoprecipitation

KW - Mitochondria

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Parkinson Disease

KW - Pedigree

KW - Protein Biosynthesis

UR - http://hdl.handle.net/10807/27964

U2 - 10.1016/j.ajhg.2011.08.009

DO - 10.1016/j.ajhg.2011.08.009

M3 - Article

SN - 0002-9297

VL - 89

SP - 398

EP - 406

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -

Translation initiator EIF4G1 mutations in familial Parkinson disease

Abstract

Keywords

OSS delle Nazioni Unite

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