Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analys...
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Autor*in:	Sugimoto, Takeshi [verfasserIn] Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Anmerkung:	© The Author(s) 2023

Übergeordnetes Werk:	Enthalten in: Human genetics - Berlin : Springer, 1964, 142(2023), 10 vom: 24. Aug., Seite 1451-1460
Übergeordnetes Werk:	volume:142 ; year:2023 ; number:10 ; day:24 ; month:08 ; pages:1451-1460

Links:	Volltext

DOI / URN:	10.1007/s00439-023-02591-9

Katalog-ID:	SPR053133269

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520			\|a Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis.
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700	1		\|a Kurahashi, Hiroki \|0 (orcid)0000-0002-5690-5218 \|4 aut
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912			\|a GBV_ILN_138
912			\|a GBV_ILN_150
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912			\|a GBV_ILN_152
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_171
912			\|a GBV_ILN_187
912			\|a GBV_ILN_213
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912			\|a GBV_ILN_230
912			\|a GBV_ILN_250
912			\|a GBV_ILN_267
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912			\|a GBV_ILN_293
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912			\|a GBV_ILN_2039
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
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912			\|a GBV_ILN_2057
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
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912			\|a GBV_ILN_2122
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912			\|a GBV_ILN_2188
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912			\|a GBV_ILN_2470
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Indexfelder

author_variant	t s ts h i hi t m tm r k rk m t i mti s m sm y m ym i t it h o ho n s ns y h yh n o no m y my j m jm h k hk
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allfields	10.1007/s00439-023-02591-9 doi (DE-627)SPR053133269 (SPR)s00439-023-02591-9-e DE-627 ger DE-627 rakwb eng Sugimoto, Takeshi verfasserin aut Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. Inagaki, Hidehito aut Mariya, Tasuku aut Kawamura, Rie aut Taniguchi-Ikeda, Mariko aut Mizuno, Seiji aut Muramatsu, Yukako aut Tsuge, Ikuya aut Ohashi, Hirofumi aut Saito, Nakamichi aut Hasegawa, Yuiko aut Ochi, Nobuhiko aut Yamaguchi, Masatoshi aut Murotsuki, Jun aut Kurahashi, Hiroki (orcid)0000-0002-5690-5218 aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 142(2023), 10 vom: 24. Aug., Seite 1451-1460 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460 https://dx.doi.org/10.1007/s00439-023-02591-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 142 2023 10 24 08 1451-1460
spelling	10.1007/s00439-023-02591-9 doi (DE-627)SPR053133269 (SPR)s00439-023-02591-9-e DE-627 ger DE-627 rakwb eng Sugimoto, Takeshi verfasserin aut Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. Inagaki, Hidehito aut Mariya, Tasuku aut Kawamura, Rie aut Taniguchi-Ikeda, Mariko aut Mizuno, Seiji aut Muramatsu, Yukako aut Tsuge, Ikuya aut Ohashi, Hirofumi aut Saito, Nakamichi aut Hasegawa, Yuiko aut Ochi, Nobuhiko aut Yamaguchi, Masatoshi aut Murotsuki, Jun aut Kurahashi, Hiroki (orcid)0000-0002-5690-5218 aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 142(2023), 10 vom: 24. Aug., Seite 1451-1460 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460 https://dx.doi.org/10.1007/s00439-023-02591-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 142 2023 10 24 08 1451-1460
allfields_unstemmed	10.1007/s00439-023-02591-9 doi (DE-627)SPR053133269 (SPR)s00439-023-02591-9-e DE-627 ger DE-627 rakwb eng Sugimoto, Takeshi verfasserin aut Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. Inagaki, Hidehito aut Mariya, Tasuku aut Kawamura, Rie aut Taniguchi-Ikeda, Mariko aut Mizuno, Seiji aut Muramatsu, Yukako aut Tsuge, Ikuya aut Ohashi, Hirofumi aut Saito, Nakamichi aut Hasegawa, Yuiko aut Ochi, Nobuhiko aut Yamaguchi, Masatoshi aut Murotsuki, Jun aut Kurahashi, Hiroki (orcid)0000-0002-5690-5218 aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 142(2023), 10 vom: 24. Aug., Seite 1451-1460 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460 https://dx.doi.org/10.1007/s00439-023-02591-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 142 2023 10 24 08 1451-1460
allfieldsGer	10.1007/s00439-023-02591-9 doi (DE-627)SPR053133269 (SPR)s00439-023-02591-9-e DE-627 ger DE-627 rakwb eng Sugimoto, Takeshi verfasserin aut Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. Inagaki, Hidehito aut Mariya, Tasuku aut Kawamura, Rie aut Taniguchi-Ikeda, Mariko aut Mizuno, Seiji aut Muramatsu, Yukako aut Tsuge, Ikuya aut Ohashi, Hirofumi aut Saito, Nakamichi aut Hasegawa, Yuiko aut Ochi, Nobuhiko aut Yamaguchi, Masatoshi aut Murotsuki, Jun aut Kurahashi, Hiroki (orcid)0000-0002-5690-5218 aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 142(2023), 10 vom: 24. Aug., Seite 1451-1460 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460 https://dx.doi.org/10.1007/s00439-023-02591-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 142 2023 10 24 08 1451-1460
allfieldsSound	10.1007/s00439-023-02591-9 doi (DE-627)SPR053133269 (SPR)s00439-023-02591-9-e DE-627 ger DE-627 rakwb eng Sugimoto, Takeshi verfasserin aut Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. Inagaki, Hidehito aut Mariya, Tasuku aut Kawamura, Rie aut Taniguchi-Ikeda, Mariko aut Mizuno, Seiji aut Muramatsu, Yukako aut Tsuge, Ikuya aut Ohashi, Hirofumi aut Saito, Nakamichi aut Hasegawa, Yuiko aut Ochi, Nobuhiko aut Yamaguchi, Masatoshi aut Murotsuki, Jun aut Kurahashi, Hiroki (orcid)0000-0002-5690-5218 aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 142(2023), 10 vom: 24. Aug., Seite 1451-1460 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460 https://dx.doi.org/10.1007/s00439-023-02591-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 142 2023 10 24 08 1451-1460
language	English
source	Enthalten in Human genetics <Berlin> 142(2023), 10 vom: 24. Aug., Seite 1451-1460 volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460
sourceStr	Enthalten in Human genetics <Berlin> 142(2023), 10 vom: 24. Aug., Seite 1451-1460 volume:142 year:2023 number:10 day:24 month:08 pages:1451-1460
format_phy_str_mv	Article
institution	findex.gbv.de
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container_title	Human genetics <Berlin>
authorswithroles_txt_mv	Sugimoto, Takeshi @@aut@@ Inagaki, Hidehito @@aut@@ Mariya, Tasuku @@aut@@ Kawamura, Rie @@aut@@ Taniguchi-Ikeda, Mariko @@aut@@ Mizuno, Seiji @@aut@@ Muramatsu, Yukako @@aut@@ Tsuge, Ikuya @@aut@@ Ohashi, Hirofumi @@aut@@ Saito, Nakamichi @@aut@@ Hasegawa, Yuiko @@aut@@ Ochi, Nobuhiko @@aut@@ Yamaguchi, Masatoshi @@aut@@ Murotsuki, Jun @@aut@@ Kurahashi, Hiroki @@aut@@
publishDateDaySort_date	2023-08-24T00:00:00Z
hierarchy_top_id	253723973
id	SPR053133269
language_de	englisch
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author	Sugimoto, Takeshi
spellingShingle	Sugimoto, Takeshi Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
authorStr	Sugimoto, Takeshi
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topic_title	Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
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title	Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
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title_full	Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
author_sort	Sugimoto, Takeshi
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author_browse	Sugimoto, Takeshi Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki
container_volume	142
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author-letter	Sugimoto, Takeshi
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title_sort	breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of dna from mature sperm
title_auth	Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
abstract	Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. © The Author(s) 2023
abstractGer	Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. © The Author(s) 2023
abstract_unstemmed	Abstract Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis. © The Author(s) 2023
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container_issue	10
title_short	Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
url	https://dx.doi.org/10.1007/s00439-023-02591-9
remote_bool	true
author2	Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki
author2Str	Inagaki, Hidehito Mariya, Tasuku Kawamura, Rie Taniguchi-Ikeda, Mariko Mizuno, Seiji Muramatsu, Yukako Tsuge, Ikuya Ohashi, Hirofumi Saito, Nakamichi Hasegawa, Yuiko Ochi, Nobuhiko Yamaguchi, Masatoshi Murotsuki, Jun Kurahashi, Hiroki
ppnlink	253723973
mediatype_str_mv	c
isOA_txt	true
hochschulschrift_bool	false
doi_str	10.1007/s00439-023-02591-9
up_date	2024-07-03T17:18:16.815Z
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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

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