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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
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.
Afiliación
  • Sugimoto T; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
  • Inagaki H; Kobe Motomachi Yume Clinic, Kobe, Japan.
  • Mariya T; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
  • Kawamura R; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
  • Taniguchi-Ikeda M; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
  • Mizuno S; Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.
  • Muramatsu Y; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan.
  • Tsuge I; Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan.
  • Ohashi H; Department of Pediatrics, Fujita Health University, Aichi, Japan.
  • Saito N; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Hasegawa Y; Shin-Koga Hospital, Kurume, Japan.
  • Ochi N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
  • Yamaguchi M; Department of Pediatrics, Aichi Prefectural Mikawa Aoitori Medical and Rehabilitation Center for Developmental Disabilities, Okazaki, Japan.
  • Murotsuki J; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
  • Kurahashi H; Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Sendai, Japan.
Hum Genet ; 142(10): 1451-1460, 2023 Oct.
Article en En | MEDLINE | ID: mdl-37615740
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Semen / ADN Límite: Humans / Male Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Semen / ADN Límite: Humans / Male Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Alemania