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- W2071058840 endingPage "1448" @default.
- W2071058840 startingPage "1435" @default.
- W2071058840 abstract "Data from diverse organisms suggests that transient hypermutability is a general mutational mechanism with the potential to generate multiple synchronous mutations, a phenomenon probably best exemplified by closely spaced multiple mutations (CSMMs). Here we have attempted to extend the concept of transient hypermutability from somatic cells to the germline, using human inherited disease-causing multiple mutations as a model system. Employing stringent criteria for data inclusion, we have retrospectively identified numerous potential examples of pathogenic CSMMs that exhibit marked similarities to the CSMMs reported in other systems. These examples include (1) eight multiple mutations, each comprising three or more components within a sequence tract of <100 bp; (2) three possible instances of mutation showers; and (3) numerous highly informative homocoordinate mutations. Using the proportion of CpG substitution as a crude indicator of the relative likelihood of transient hypermutability, we present evidence to suggest that CSMMs comprising at least one pair of mutations separated by < or =100 bp may constitute signatures of transient hypermutability in human genes. Although this analysis extends the generality of the concept of transient hypermutability and provides new insights into what may be considered a novel mechanism of mutagenesis underlying human inherited disease, it has raised serious concerns regarding current practices in mutation screening." @default.
- W2071058840 created "2016-06-24" @default.
- W2071058840 creator A5024873764 @default.
- W2071058840 creator A5042443600 @default.
- W2071058840 creator A5066521398 @default.
- W2071058840 date "2009-10-01" @default.
- W2071058840 modified "2023-10-18" @default.
- W2071058840 title "Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes" @default.
- W2071058840 cites W1020382305 @default.
- W2071058840 cites W1496627746 @default.
- W2071058840 cites W1510167055 @default.
- W2071058840 cites W1543013349 @default.
- W2071058840 cites W157738979 @default.
- W2071058840 cites W1604834291 @default.
- W2071058840 cites W1855388450 @default.
- W2071058840 cites W1966287829 @default.
- W2071058840 cites W1967367140 @default.
- W2071058840 cites W1967786819 @default.
- W2071058840 cites W1968131225 @default.
- W2071058840 cites W1968935393 @default.
- W2071058840 cites W1972330784 @default.
- W2071058840 cites W1974324509 @default.
- W2071058840 cites W1978623976 @default.
- W2071058840 cites W1979314704 @default.
- W2071058840 cites W1979447150 @default.
- W2071058840 cites W1979488525 @default.
- W2071058840 cites W1979938212 @default.
- W2071058840 cites W1984044215 @default.
- W2071058840 cites W1984453924 @default.
- W2071058840 cites W1984847475 @default.
- W2071058840 cites W1986264439 @default.
- W2071058840 cites W1986368729 @default.
- W2071058840 cites W1990581978 @default.
- W2071058840 cites W1993644411 @default.
- W2071058840 cites W1994453562 @default.
- W2071058840 cites W1994978287 @default.
- W2071058840 cites W1995773545 @default.
- W2071058840 cites W1995958002 @default.
- W2071058840 cites W1996563974 @default.
- W2071058840 cites W1996690349 @default.
- W2071058840 cites W2000952863 @default.
- W2071058840 cites W2001262564 @default.
- W2071058840 cites W2001747858 @default.
- W2071058840 cites W2001918993 @default.
- W2071058840 cites W2002548859 @default.
- W2071058840 cites W2006048313 @default.
- W2071058840 cites W2007266765 @default.
- W2071058840 cites W2009282962 @default.
- W2071058840 cites W2011039144 @default.
- W2071058840 cites W2011684878 @default.
- W2071058840 cites W2011807848 @default.
- W2071058840 cites W2011817955 @default.
- W2071058840 cites W2012445299 @default.
- W2071058840 cites W2012856015 @default.
- W2071058840 cites W2013634191 @default.
- W2071058840 cites W2013977089 @default.
- W2071058840 cites W2014831393 @default.
- W2071058840 cites W2015031894 @default.
- W2071058840 cites W2015043581 @default.
- W2071058840 cites W2015094428 @default.
- W2071058840 cites W2018248334 @default.
- W2071058840 cites W2019269117 @default.
- W2071058840 cites W2020110300 @default.
- W2071058840 cites W2021091731 @default.
- W2071058840 cites W2021194230 @default.
- W2071058840 cites W2022682937 @default.
- W2071058840 cites W2023467804 @default.
- W2071058840 cites W2026668740 @default.
- W2071058840 cites W2026904787 @default.
- W2071058840 cites W2028528691 @default.
- W2071058840 cites W2029091203 @default.
- W2071058840 cites W2030162832 @default.
- W2071058840 cites W2031251221 @default.
- W2071058840 cites W2033149430 @default.
- W2071058840 cites W2035191492 @default.
- W2071058840 cites W2035403779 @default.
- W2071058840 cites W2037211654 @default.
- W2071058840 cites W2039690031 @default.
- W2071058840 cites W2039744547 @default.
- W2071058840 cites W2041731164 @default.
- W2071058840 cites W2041977218 @default.
- W2071058840 cites W2042737005 @default.
- W2071058840 cites W2043087806 @default.
- W2071058840 cites W2043802584 @default.
- W2071058840 cites W2048807121 @default.
- W2071058840 cites W2048960514 @default.
- W2071058840 cites W2050968477 @default.
- W2071058840 cites W2053114531 @default.
- W2071058840 cites W2055712281 @default.
- W2071058840 cites W2057977031 @default.
- W2071058840 cites W2058413149 @default.
- W2071058840 cites W2060371024 @default.
- W2071058840 cites W2061622181 @default.
- W2071058840 cites W2062088168 @default.
- W2071058840 cites W2064921887 @default.
- W2071058840 cites W2067513094 @default.
- W2071058840 cites W2070264638 @default.
- W2071058840 cites W2070470572 @default.