作者
Marie-Christine Chartier-Harlin, Justus C Dachsel, Carles Vilariño-Güell, Sarah J Lincoln, Frédéric Leprêtre, Mary M Hulihan, Jennifer Kachergus, Austen J Milnerwood, Lucia Tapia, Mee-Sook Song, Emilie Le Rhun, Eugénie Mutez, Lydie Larvor, Aurélie Duflot, Christel Vanbesien-Mailliot, Alexandre Kreisler, Owen A Ross, Kenya Nishioka, Alexandra I Soto-Ortolaza, Stephanie A Cobb, Heather L Melrose, Bahareh Behrouz, Brett H Keeling, Justin A Bacon, Emna Hentati, Lindsey Williams, Akiko Yanagiya, Nahum Sonenberg, Paul J Lockhart, Abba C Zubair, Ryan J Uitti, Jan O Aasly, Anna Krygowska-Wajs, Grzegorz Opala, Zbigniew K Wszolek, Roberta Frigerio, Demetrius M Maraganore, David Gosal, Tim Lynch, Michael Hutchinson, Anna Rita Bentivoglio, Enza Maria Valente, William C Nichols, Nathan Pankratz, Tatiana Foroud, Rachel A Gibson, Faycal Hentati, Dennis W Dickson, Alain Destée, Matthew J Farrer
发表日期
2011/9/9
期刊
The American Journal of Human Genetics
卷号
89
期号
3
页码范围
398-406
出版商
Elsevier
简介
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 …
引用总数
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MC Chartier-Harlin, JC Dachsel, C Vilariño-Güell… - The American Journal of Human Genetics, 2011