Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3

被引：0
作者：
Ana Rosa Vieira Melo
Mafalda Raposo
Marta Ventura
Sandra Martins
Sara Pavão
Isabel Alonso
Conceição Bettencourt
Manuela Lima
机构：
[1] Universidade dos Açores,Faculdade de Ciências e Tecnologia
[2] Universidade do Porto,UniGENe, Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (I3S)
[3] National Institute of Health Doutor Ricardo Jorge (INSA,Food and Nutrition Department
[4] IP),i3S
[5] IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto,Instituto de Investigação e Inovação em Saúde
[6] Universidade do Porto,Department of Neurodegenerative Disease and Queen Square Brain Bank for Neurological Disorders
[7] UCL Queen Square Institute of Neurology,undefined
来源：
The Cerebellum | 2023年 / 22卷
关键词：
Genetic modifiers; Untranslated regions; Transcription regulation; Polyglutamine disease; miRNA; Gametic phase; MJD; SCA3;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Untranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains poorly explored for ATXN3, the causative gene of Machado-Joseph disease (MJD). Although a few genetic modifiers have been identified for MJD age at onset (AO), they only explain a small fraction of the AO variance. Our aim was to analyse variation at the 3′UTR of ATXN3 in MJD patients, analyse its impact on AO and attempt to build haplotypes that might discriminate between normal and expanded alleles.
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页码：37 / 45
页数：8
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