The role of tandem repeat expansions in brain disorders

被引:3
|
作者
Panoyan, Mary Anne [1 ]
Wendt, Frank R. [1 ,2 ,3 ]
机构
[1] Univ Toronto, Dept Anthropol, Mississauga, ON, Canada
[2] Univ Toronto, Dalla Lana Sch Publ Hlth, Biostat Div, Toronto, ON, Canada
[3] Univ Toronto, Forens Sci Program, Mississauga, ON, Canada
关键词
MYOTONIC-DYSTROPHY; CTG REPEAT; MUTATION; ATAXIA; ONSET;
D O I
10.1042/ETLS20230022
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The human genome contains numerous genetic polymorphisms contributing to different health and disease outcomes. Tandem repeat (TR) loci are highly polymorphic yet under investigated in large genomic studies, which has prompted research efforts to identify novel variations and gain a deeper understanding of their role in human biology and disease outcomes. We summarize the current understanding of TRs and their implications for human health and disease, including an overview of the challenges encountered when conducting TR analyses and potential solutions to overcome these challenges. By shedding light on these issues, this article aims to contribute to a better understanding of the impact of TRs on the development of new disease treatments.
引用
收藏
页码:249 / 263
页数:15
相关论文
共 50 条
  • [1] Tandem repeat disorders
    Ryan, Calen P.
    EVOLUTION MEDICINE AND PUBLIC HEALTH, 2019, (01): : 17 - 17
  • [2] Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions
    Annear, Dale J.
    Kooy, R. Frank
    EMERGING TOPICS IN LIFE SCIENCES, 2023, 7 (03) : 265 - 275
  • [3] Tandem repeat expansions: the good, the bad and the hidden
    Depienne, Christel
    MEDIZINISCHE GENETIK, 2022, 33 (04) : 291 - 292
  • [4] Repeat expansions in neuropsychiatric disorders.
    Lindblad, K
    Nylander, PO
    Zander, C
    Yuan, QP
    Ståhle, L
    Balciuniene, J
    Pettersson, U
    Engström, C
    Breschel, T
    McInnis, M
    Ross, CA
    Adolfsson, R
    Schalling, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 81 (06): : 481 - 481
  • [5] INCREASED BURDEN OF RARE TANDEM REPEAT EXPANSIONS IN SCHIZOPHRENIA
    Szatkiewicz, Jin
    Wen, Jia
    Trost, Brett
    Engchuan, Worrawat
    Ancalade, NaEshia
    Farrell, Martilias
    Giusti, Paola
    Magnusson, Patrik
    Gyllensten, Ulf
    Hultman, Christina
    Sullivan, Patrick
    Yuen, Ryan
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2021, 51 : E84 - E84
  • [6] The "other" trinucleotide repeat: Polyalanine expansions disorders
    Mundlos, Stefan
    JOURNAL OF MEDICAL GENETICS, 2006, 43 : S15 - S15
  • [7] CAG repeat expansions in bipolar and unipolar disorders
    Oruc, L
    Lindblad, K
    Verheyen, GR
    Ahlberg, S
    Jakovljevic, M
    Ivezic, S
    Raeymaekers, P
    Van Broeckhoven, C
    Schalling, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (03) : 730 - 732
  • [8] STRetch: detecting and discovering pathogenic short tandem repeat expansions
    Harriet Dashnow
    Monkol Lek
    Belinda Phipson
    Andreas Halman
    Simon Sadedin
    Andrew Lonsdale
    Mark Davis
    Phillipa Lamont
    Joshua S. Clayton
    Nigel G. Laing
    Daniel G. MacArthur
    Alicia Oshlack
    Genome Biology, 19
  • [9] Profiling the genome-wide landscape of tandem repeat expansions
    Mousavi, Nima
    Shleizer-Burko, Sharona
    Yanicky, Richard
    Gymrek, Melissa
    NUCLEIC ACIDS RESEARCH, 2019, 47 (15)
  • [10] STRetch: detecting and discovering pathogenic short tandem repeat expansions
    Dashnow, Harriet
    Lek, Monkol
    Phipson, Belinda
    Halman, Andreas
    Sadedin, Simon
    Lonsdale, Andrew
    Davis, Mark
    Lamont, Phillipa
    Clayton, Joshua S.
    Laing, Nigel G.
    MacArthur, Daniel G.
    Oshlack, Alicia
    GENOME BIOLOGY, 2018, 19