Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project

被引：7

作者：

Akcimen, Fulya ^{[1
,2
]}

Ross, Jay P. ^{[1
,2
]}

Liao, Calwing ^{[1
,2
]}

Spiegelman, Dan ^{[2
]}

Dion, Patrick A. ^{[2
,3
]}

Rouleau, Guy A. ^{[1
,2
,3
]}

机构：

[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[2] McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada

[3] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

来源：

MOVEMENT DISORDERS | 2021年 / 36卷 / 02期

基金：

加拿大健康研究院;

关键词：

ataxia; CAG‐ repeat diseases; ATXN1; ATXN2; ATXN3; HTT; 1KGP; HISTORY; DISEASE; ONSET;

D O I：

10.1002/mds.28341

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background Spinocerebellar ataxia types 1, 2, 3 and Huntington disease are neurodegenerative disorders caused by expanded CAG repeats. Methods We performed an in-silico analysis of CAG repeats in ATXN1, ATXN2, ATXN3, and HTT using 30x whole-=genome sequencing data of 2504 samples from the 1000 Genomes Project. Results Seven HTT-positive, 3 ATXN2-positive, 1 ATXN3-positive, and 6 possibly ATXN1-positive samples were identified. No correlation was found between the repeat sizes of the different genes. The distribution of CAG alleles varied by ethnicity. Conclusion Our results suggest that there may be asymptomatic small expanded repeats in almost 0.5% of these populations. (c) 2020 International Parkinson and Movement Disorder Society

引用

页码：514 / 518

页数：5

共 21 条

[1] Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease [J].

Akcimen, Fulya ;

Martins, Sandra ;

Liao, Calwing ;

Bourassa, Cynthia, V ;

Catoire, Helene ;

Nicholson, Garth A. ;

Riess, Olaf ;

Raposo, Mafalda ;

Franca, Marcondes C. ;

Vasconcelos, Joao ;

Lima, Manuela ;

Lopes-Cendes, Iscia ;

Saraiva-Pereira, Maria Luiza ;

Jardim, Laura B. ;

Sequeiros, Jorge ;

Dion, Patrick A. ;

Rouleau, Guy A. .

AGING-US, 2020, 12 (06) :4742-4756

[2] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[3] History of genetic disease - The molecular genetics of Huntington disease - a history [J].

Bates, GP .

NATURE REVIEWS GENETICS, 2005, 6 (10) :766-773

[4] DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases [J].

Bettencourt, Conceicao ;

Hensman-Moss, Davina ;

Flower, Michael ;

Wiethoff, Sarah ;

Brice, Alexis ;

Goizet, Cyril ;

Stevanin, Giovanni ;

Koutsis, Georgios ;

Karadima, Georgia ;

Panas, Marios ;

Yescas-Gomes, Petra ;

Esmeralda Garcia-Velazquez, Lizbeth ;

Elisa Alonso-Vilatela, Maria ;

Lima, Manuela ;

Raposo, Mafalda ;

Traynor, Bryan ;

Sweeney, Mary ;

Wood, Nicholas ;

Giunti, Paola ;

Durr, Alexandra ;

Holmans, Peter ;

Houlden, Henry ;

Tabrizi, Sarah J. ;

Jones, Lesley .

ANNALS OF NEUROLOGY, 2016, 79 (06) :983-990

[5] Machado-Joseph Disease: from first descriptions to new perspectives [J].

Bettencourt, Conceicao ;

Lima, Manuela .

ORPHANET JOURNAL OF RARE DISEASES, 2011, 6

[6]

Budworth Helen, 2013, Methods Mol Biol, V1010, P3, DOI 10.1007/978-1-62703-411-1_1

[7] A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies [J].

Coutelier, Marie ;

Coarelli, Giulia ;

Monin, Marie-Lorraine ;

Konop, Juliette ;

Davoine, Claire-Sophie ;

Tesson, Christelle ;

Valter, Remi ;

Anheim, Mathieu ;

Behin, Anthony ;

Castelnovo, Giovanni ;

Charles, Perrine ;

David, Albert ;

Ewenczyk, Claire ;

Fradin, Melanie ;

Goizet, Cyril ;

Hannequin, Didier ;

Labauge, Pierre ;

Riant, Florence ;

Sarda, Pierre ;

Sznajer, Yves ;

Tison, Francois ;

Ullmann, Urielle ;

Van Maldergem, Lionel ;

Mochel, Fanny ;

Brice, Alexis ;

Stevanin, Giovanni ;

Durr, Alexandra .

BRAIN, 2017, 140 :1579-1594

[8] ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions [J].

Dolzhenko, Egor ;

Deshpande, Viraj ;

Schlesinger, Felix ;

Krusche, Peter ;

Petrovski, Roman ;

Chen, Sai ;

Emig-Agius, Dorothea ;

Gross, Andrew ;

Narzisi, Giuseppe ;

Bowman, Brett ;

Scheffler, Konrad ;

van Vugt, Joke J. F. A. ;

French, Courtney ;

Sanchis-Juan, Alba ;

Ibanez, Kristina ;

Tucci, Arianna ;

Lajoie, Bryan R. ;

Veldink, Jan H. ;

Raymond, F. Lucy ;

Taft, Ryan J. ;

Bentley, David R. ;

Eberle, Michael A. .

BIOINFORMATICS, 2019, 35 (22) :4754-4756

[9] Detection of long repeat expansions from PCR-free whole-genome sequence data [J].

Dolzhenko, Egor ;

van Vugt, Joke J. F. A. ;

Shaw, Richard J. ;

Bekritsky, Mitchell A. ;

van Blitterswijk, Marka ;

Narzisi, Giuseppe ;

Ajay, Subramanian S. ;

Rajan, Vani ;

Lajoie, Bryan R. ;

Johnson, Nathan H. ;

Kingsbury, Zoya ;

Humphray, Sean J. ;

Schellevis, Raymond D. ;

Brands, William J. ;

Baker, Matt ;

Rademakers, Rosa ;

Kooyman, Maarten ;

Tazelaar, Gijs H. P. ;

van Es, Michael A. ;

McLaughlin, Russell ;

Sproviero, William ;

Shatunov, Aleksey ;

Jones, Ashley ;

Al Khleifat, Ahmad ;

Pittman, Alan ;

Morgan, Sarah ;

Hardiman, Orla ;

Al-Chalabi, Ammar ;

Shaw, Chris ;

Smith, Bradley ;

Neo, Edmund J. ;

Morrison, Karen ;

Shaw, Pamela J. ;

Reeves, Catherine ;

Winterkorn, Lara ;

Wexler, Nancy S. ;

Housman, David E. ;

Ng, Christopher W. ;

Li, Alina L. ;

Taft, Ryan J. ;

van den Berg, Leonard H. ;

Bentley, David R. ;

Veldink, Jan H. ;

Eberle, Michael A. .

GENOME RESEARCH, 2017, 27 (11) :1895-1903

[10]

Fairley S, 2019, NUCLEIC ACIDS RES, V48, pD941

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