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• W2002252858 endingPage "987" @default.
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• W2002252858 abstract "We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene (PLP1) in patients with Pelizaeus-Merzbacher disease. We provide the first report of 13 junction sequences, which gives insight into underlying mechanisms. Although proximal breakpoints were highly variable, distal breakpoints tended to cluster around low-copy repeats (LCRs) (50% of distal breakpoints), and each duplication event appeared to be unique (100 kb to 4.6 Mb in size). Sequence analysis of the junctions revealed no large homologous regions between proximal and distal breakpoints. Most junctions had microhomology of 1–6 bases, and one had a 2-base insertion. Boundaries between single-copy and duplicated DNA were identical to the reference genomic sequence in all patients investigated. Taken together, these data suggest that the tandem duplications are formed by a coupled homologous and nonhomologous recombination mechanism. We suggest repair of a double-stranded break (DSB) by one-sided homologous strand invasion of a sister chromatid, followed by DNA synthesis and nonhomologous end joining with the other end of the break. This is in contrast to other genomic disorders that have recurrent rearrangements formed by nonallelic homologous recombination between LCRs. Interspersed repetitive elements (Alu elements, long interspersed nuclear elements, and long terminal repeats) were found at 18 of the 26 breakpoint sequences studied. No specific motif that may predispose to DSBs was revealed, but single or alternating tracts of purines and pyrimidines that may cause secondary structures were common. Analysis of the 2-Mb region susceptible to duplications identified proximal-specific repeats and distal LCRs in addition to the previously reported ones, suggesting that the unique genomic architecture may have a role in nonrecurrent rearrangements by promoting instability. We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene (PLP1) in patients with Pelizaeus-Merzbacher disease. We provide the first report of 13 junction sequences, which gives insight into underlying mechanisms. Although proximal breakpoints were highly variable, distal breakpoints tended to cluster around low-copy repeats (LCRs) (50% of distal breakpoints), and each duplication event appeared to be unique (100 kb to 4.6 Mb in size). Sequence analysis of the junctions revealed no large homologous regions between proximal and distal breakpoints. Most junctions had microhomology of 1–6 bases, and one had a 2-base insertion. Boundaries between single-copy and duplicated DNA were identical to the reference genomic sequence in all patients investigated. Taken together, these data suggest that the tandem duplications are formed by a coupled homologous and nonhomologous recombination mechanism. We suggest repair of a double-stranded break (DSB) by one-sided homologous strand invasion of a sister chromatid, followed by DNA synthesis and nonhomologous end joining with the other end of the break. This is in contrast to other genomic disorders that have recurrent rearrangements formed by nonallelic homologous recombination between LCRs. Interspersed repetitive elements (Alu elements, long interspersed nuclear elements, and long terminal repeats) were found at 18 of the 26 breakpoint sequences studied. No specific motif that may predispose to DSBs was revealed, but single or alternating tracts of purines and pyrimidines that may cause secondary structures were common. Analysis of the 2-Mb region susceptible to duplications identified proximal-specific repeats and distal LCRs in addition to the previously reported ones, suggesting that the unique genomic architecture may have a role in nonrecurrent rearrangements by promoting instability." @default.
• W2002252858 created "2016-06-24" @default.
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• W2002252858 date "2005-12-01" @default.
• W2002252858 modified "2023-10-16" @default.
• W2002252858 title "Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination" @default.
• W2002252858 cites W1566720158 @default.
• W2002252858 cites W1579399646 @default.
• W2002252858 cites W1616028725 @default.
• W2002252858 cites W1913088950 @default.
• W2002252858 cites W1964918240 @default.
• W2002252858 cites W1968469516 @default.
• W2002252858 cites W1969845182 @default.
• W2002252858 cites W1971906849 @default.
• W2002252858 cites W1972262740 @default.
• W2002252858 cites W1975532031 @default.
• W2002252858 cites W1977625458 @default.
• W2002252858 cites W1980765590 @default.
• W2002252858 cites W1981018676 @default.
• W2002252858 cites W1981779457 @default.
• W2002252858 cites W1984915289 @default.
• W2002252858 cites W1985120138 @default.
• W2002252858 cites W1987235204 @default.
• W2002252858 cites W1987445460 @default.
• W2002252858 cites W1988582699 @default.
• W2002252858 cites W1990769763 @default.
• W2002252858 cites W1991937853 @default.
• W2002252858 cites W1997012973 @default.
• W2002252858 cites W1997647094 @default.
• W2002252858 cites W2000471643 @default.
• W2002252858 cites W2008601218 @default.
• W2002252858 cites W2017218018 @default.
• W2002252858 cites W2020789006 @default.
• W2002252858 cites W2022009349 @default.
• W2002252858 cites W2030868540 @default.
• W2002252858 cites W2034245251 @default.
• W2002252858 cites W2034526956 @default.
• W2002252858 cites W2041668110 @default.
• W2002252858 cites W2044908612 @default.
• W2002252858 cites W2047440973 @default.
• W2002252858 cites W2050441340 @default.
• W2002252858 cites W2051572757 @default.
• W2002252858 cites W2052525575 @default.
• W2002252858 cites W2054164689 @default.
• W2002252858 cites W2055043387 @default.
• W2002252858 cites W2055937107 @default.
• W2002252858 cites W2060453248 @default.
• W2002252858 cites W2061634736 @default.
• W2002252858 cites W2062743311 @default.
• W2002252858 cites W2063640733 @default.
• W2002252858 cites W2067552991 @default.
• W2002252858 cites W2070193133 @default.
• W2002252858 cites W2072603644 @default.
• W2002252858 cites W2073892413 @default.
• W2002252858 cites W2075168304 @default.
• W2002252858 cites W2081705896 @default.
• W2002252858 cites W2083853701 @default.
• W2002252858 cites W2085151059 @default.
• W2002252858 cites W2086579330 @default.
• W2002252858 cites W2087036937 @default.
• W2002252858 cites W2088769939 @default.
• W2002252858 cites W2091660221 @default.
• W2002252858 cites W2097154822 @default.
• W2002252858 cites W2103256993 @default.
• W2002252858 cites W2114322342 @default.
• W2002252858 cites W2130680376 @default.
• W2002252858 cites W2131581981 @default.
• W2002252858 cites W2141157874 @default.
• W2002252858 cites W2142701631 @default.
• W2002252858 cites W2144899009 @default.
• W2002252858 cites W2145968044 @default.
• W2002252858 cites W2148979041 @default.
• W2002252858 cites W2151318268 @default.
• W2002252858 cites W2159825246 @default.
• W2002252858 cites W2163771746 @default.
• W2002252858 cites W2164463031 @default.
• W2002252858 cites W2165554230 @default.
• W2002252858 cites W2170612945 @default.
• W2002252858 cites W2171584212 @default.
• W2002252858 cites W2320868553 @default.
• W2002252858 cites W2409952447 @default.
• W2002252858 cites W4237833990 @default.
• W2002252858 cites W4238737563 @default.

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