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Citation
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HERO ID
7418306
Reference Type
Journal Article
Title
Tandem repeats mediating genetic plasticity in health and disease
Author(s)
Hannan, AJ; ,
Year
2018
Is Peer Reviewed?
1
Journal
Nature Reviews. Genetics
ISSN:
1471-0056
EISSN:
1471-0064
Publisher
NATURE PUBLISHING GROUP
Location
LONDON
Page Numbers
286-298
Language
English
PMID
29398703
DOI
10.1038/nrg.2017.115
Web of Science Id
WOS:000430048800008
URL
http://www.nature.com/articles/nrg.2017.115
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Abstract
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that distinguish them from other genetic variants, including the fact that they are more liable to mutation; this enables them to mediate genetic plasticity. The expansion of tandem repeats, particularly of short tandem repeats, can cause a range of disorders (including Huntington disease, various ataxias, motor neuron disease, frontotemporal dementia, fragile X syndrome and other neurological disorders), and emerging data suggest that tandem repeat polymorphisms (TRPs) can also regulate gene expression in healthy individuals. TRPs in human genomes may also contribute to the missing heritability of polygenic disorders. A better understanding of tandem repeats and their associated repeatome, as well as their capacity for genetic plasticity via both germline and somatic mutations, is needed to transform our understanding of the role of TRPs in health and disease.
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