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- W3093830004 endingPage "112" @default.
- W3093830004 startingPage "97" @default.
- W3093830004 abstract "Repeat sequences account for over half of the human genome and represent a significant source of variation that underlies physiological and pathological states. Yet, their study has been hindered due to limitations in short-reads sequencing technology and difficulties in assembly. A important category of repetitive DNA in the human genome is comprised of tandem repeats (TRs), where repetitive units are arranged in a head-to-tail pattern. Compared to other regions of the genome, TRs carry between 10 and 10,000 fold higher mutation rate. There are several mutagenic mechanisms that can give rise to this propensity toward instability, but their precise contribution remains speculative. Given the high degree of homology between these sequences and their arrangement in tandem, once damaged, TRs have an intrinsic propensity to undergo aberrant recombination with non-allelic exchange and generate harmful rearrangements that may undermine the stability of the entire genome. The dynamic mutagenesis at TRs has been found to underlie individual polymorphism associated with neurodegenerative and neuromuscular disorders, as well as complex genetic diseases like cancer and diabetes. Here, we review our current understanding of the surveillance and repair mechanisms operating within these regions, and we describe how alterations in these protective processes can readily trigger mutational signatures found at TRs, ultimately resulting in the pathological correlation between TRs instability and human diseases. Finally, we provide a viewpoint to counter the detrimental effects that TRs pose in light of their selection and conservation, as important drivers of human evolution." @default.
- W3093830004 created "2020-10-29" @default.
- W3093830004 creator A5025609663 @default.
- W3093830004 creator A5063490039 @default.
- W3093830004 creator A5067202955 @default.
- W3093830004 date "2021-05-01" @default.
- W3093830004 modified "2023-09-26" @default.
- W3093830004 title "Genome (in)stability at tandem repeats" @default.
- W3093830004 cites W119566334 @default.
- W3093830004 cites W146312310 @default.
- W3093830004 cites W1492929429 @default.
- W3093830004 cites W1522901791 @default.
- W3093830004 cites W1562293465 @default.
- W3093830004 cites W1563711875 @default.
- W3093830004 cites W156481159 @default.
- W3093830004 cites W1579877598 @default.
- W3093830004 cites W1595069818 @default.
- W3093830004 cites W1666624602 @default.
- W3093830004 cites W1686075321 @default.
- W3093830004 cites W1841331176 @default.
- W3093830004 cites W1878784702 @default.
- W3093830004 cites W1912672559 @default.
- W3093830004 cites W1963578989 @default.
- W3093830004 cites W1963816408 @default.
- W3093830004 cites W1965975446 @default.
- W3093830004 cites W1966302019 @default.
- W3093830004 cites W1967867591 @default.
- W3093830004 cites W1968954227 @default.
- W3093830004 cites W1969558292 @default.
- W3093830004 cites W1969901238 @default.
- W3093830004 cites W1971817747 @default.
- W3093830004 cites W1972202164 @default.
- W3093830004 cites W1973211150 @default.
- W3093830004 cites W1975993845 @default.
- W3093830004 cites W1979291732 @default.
- W3093830004 cites W1979513687 @default.
- W3093830004 cites W1980480427 @default.
- W3093830004 cites W1981123122 @default.
- W3093830004 cites W1984290310 @default.
- W3093830004 cites W1985392545 @default.
- W3093830004 cites W1986287490 @default.
- W3093830004 cites W1989249796 @default.
- W3093830004 cites W1990369591 @default.
- W3093830004 cites W1991342096 @default.
- W3093830004 cites W1992076064 @default.
- W3093830004 cites W1995537221 @default.
- W3093830004 cites W1996022046 @default.
- W3093830004 cites W1996183597 @default.
- W3093830004 cites W1998785989 @default.
- W3093830004 cites W1999665211 @default.
- W3093830004 cites W2003338975 @default.
- W3093830004 cites W2003667713 @default.
- W3093830004 cites W2004054825 @default.
- W3093830004 cites W2004173334 @default.
- W3093830004 cites W2007170592 @default.
- W3093830004 cites W2008359761 @default.
- W3093830004 cites W2009852664 @default.
- W3093830004 cites W2010406601 @default.
- W3093830004 cites W2010882280 @default.
- W3093830004 cites W2012955490 @default.
- W3093830004 cites W2013906792 @default.
- W3093830004 cites W2019382189 @default.
- W3093830004 cites W2028670749 @default.
- W3093830004 cites W2029369774 @default.
- W3093830004 cites W2031351362 @default.
- W3093830004 cites W2031871849 @default.
- W3093830004 cites W2032319430 @default.
- W3093830004 cites W2032464841 @default.
- W3093830004 cites W2036519228 @default.
- W3093830004 cites W2036648250 @default.
- W3093830004 cites W2036652203 @default.
- W3093830004 cites W2036961421 @default.
- W3093830004 cites W2037898576 @default.
- W3093830004 cites W2038691921 @default.
- W3093830004 cites W2040275880 @default.
- W3093830004 cites W2040860750 @default.
- W3093830004 cites W2041599244 @default.
- W3093830004 cites W2042447441 @default.
- W3093830004 cites W2043204829 @default.
- W3093830004 cites W2044110911 @default.
- W3093830004 cites W2051866505 @default.
- W3093830004 cites W2053158038 @default.
- W3093830004 cites W2054138680 @default.
- W3093830004 cites W2054925751 @default.
- W3093830004 cites W2057461162 @default.
- W3093830004 cites W2058616231 @default.
- W3093830004 cites W2059109710 @default.
- W3093830004 cites W2060195655 @default.
- W3093830004 cites W2061081782 @default.
- W3093830004 cites W2062671651 @default.
- W3093830004 cites W2063880804 @default.
- W3093830004 cites W2065816205 @default.
- W3093830004 cites W2066468421 @default.
- W3093830004 cites W2067550378 @default.
- W3093830004 cites W2067590534 @default.
- W3093830004 cites W2071918742 @default.
- W3093830004 cites W2072442692 @default.
- W3093830004 cites W2073946370 @default.