Molecular basis and functional significance of XY body formation in mammalian male meiosis

2011 Fiscal Year Final Research Report

• Project/Area Number: 22790192
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: General anatomy (including Histology/Embryology)
• Research Institution: Fujita Health University
• Principal Investigator: KOGO Hiroshi 藤田保健衛生大学, 総合医科学研究所, 助教 (20282387)
• Project Period (FY): 2010 – 2011
• Keywords: 減数分裂 / 不妊症 / 無精子症 / 不育症

Research Abstract

The XY body is a specialized heterochromatic structure formed on the sex chromosomes during mammalian male meiosis. The failure of XY body formation leads to spermatocyte apoptosis, suggesting its crucial function in male gametogenesis. To date, however, the molecular basis of XY body formation has been largely unknown. In this study, we used gene targeting to generate mice lacking HORMAD2, a protein that localizes to the sex chromosome axes in mouse spermatocytes. Our results reveal that HORMAD2 is essential for the XY body formation via the recruitment of ATR activity.

Research Products

• [Journal Article] HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes (2012)
  • Author(s): Kogo, H., Tsutsumi, M., Ohye, T., Inagaki, H., Abe, T., Kurahashi, H.
  • Journal Title: Genes Cells Volume: 17 Pages: 439-454
  • DOI: DOI:10.1111/j.1365-2443.2012.01600.x
  • Peer Reviewed
• [Journal Article] Molecular basis of maternal age-related increase in oocyte aneuploidy. Congenit (2012)
  • Author(s): Kurahashi, H., Tsutsumi, M., Nishiyama, S., Kogo, H., Inagaki, H., Ohye, T.
  • Journal Title: Anom. Kyoto Volume: 52 Pages: 8-15
  • DOI: DOI:10.1111/j.1741-4520.2011.00350.x
  • Peer Reviewed
• [Journal Article] Mechanism of complex gross chromosomal rearrangements : a commentary on Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation (2012)
  • Author(s): Kurahashi, H., Ohye, T., Inagaki, H., Kogo, H., Tsutsumi, M.
  • Journal Title: J. Hum. Genet Volume: 57 Pages: 81-83
  • DOI: DOI:10.1038/jhg.2011.143
  • Peer Reviewed
• [Journal Article] DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation (2011)
  • Author(s): Kato, T., Inagaki, H., Tong, M., Kogo, H., Ohye, T., Yamada, K., Tsutsumi, M., Emanuel, B. S., Kurahashi, H.
  • Journal Title: Mol. Cytogenet Volume: 4(18) Pages: 1-8
  • DOI: DOI:10.1186/1755-8166-4-18
  • Peer Reviewed
• [Journal Article] Characterization of a novel mouse gene encoding an SYCP3-like protein that re-localizes from the XY body to the nucleolus during prophase of male meiosis I (2011)
  • Author(s): Tsutsumi, M., Kogo, H., Kowa-Sugiyama, H., Inagaki, H., Ohye, T., Kurahashi, H.
  • Journal Title: Biol. Reprod Volume: 85 Pages: 165-171
  • DOI: DOI:10.1095/biolreprod.110.087270
  • Peer Reviewed
• [Journal Article] Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11 ; 22) s in sperm (2010)
  • Author(s): Tong, M., Kato, T., Yamada, K., Inagaki, H., Kogo, H., Ohye, T., Tsutsumi, M., Wang, J., Emanuel, B. S., Kurahashi, H.
  • Journal Title: Hum. Mol. Genet Volume: 19 Pages: 2630-2637
  • DOI: DOI:10.1093/hmg/ddq150
  • Peer Reviewed
• [Presentation] 哺乳類の減数分裂におけるHORMAD2の機能と対合異常の監視機構 (2012)
  • Author(s): 向後寛、堤真紀子、稲垣秀人、大江瑞恵、倉橋浩樹
  • Organizer: 第117回日本解剖学会全国学術集会
  • Place of Presentation: 甲府
  • Year and Date: 2012-03-28
• [Presentation] HORMAD2は哺乳類雌の減数分裂における対合チェックポイントに必要である (2011)
  • Author(s): 向後寛、堤真紀子、稲垣秀人、大江瑞恵、倉橋浩樹
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: 横浜
  • Year and Date: 2011-12-13
• [Presentation] HORMAD1-deficiency causes azoospermia in males and pregnancy loss in females (2011)
  • Author(s): Kogo, H., Tsutsumi, M., Ohye, T., Inagaki, H., Kurahashi, H.
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
  • Year and Date: 2011-10-12
• [Presentation] HORMAD1-dependent synapsis checkpoint in mammalian meiosis (2011)
  • Author(s): Kogo, H., Tsutsumi, M., Ohye, T., Inagaki, H., Kurahashi, H.
  • Organizer: 2011 FASEB Summer Research Conferences "Genetic Recombination & Genome Rearrangements"
  • Place of Presentation: Steamboat Springs
  • Year and Date: 2011-07-26
• [Presentation] 哺乳類雄の減数分裂におけるHORMAD2の機能 (2011)
  • Author(s): 向後寛、堤真紀子、稲垣秀人、大江瑞恵、倉橋浩樹
  • Organizer: 第116回日本解剖学会全国学術集会
  • Place of Presentation: 横浜
  • Year and Date: 2011-03-29
• [Presentation] 哺乳類雄の減数分裂におけるHORMAD2の機能 (2010)
  • Author(s): 向後寛、堤真紀子、稲垣秀人、大江瑞恵、倉橋浩樹
  • Organizer: 第33回日本分子生物学会年会
  • Place of Presentation: 神戸
  • Year and Date: 2010-12-09