unctional and structural characterization of the human Y chromosome

2023 Fiscal Year Final Research Report

• Project/Area Number: 21H02464
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 43050:Genome biology-related
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Maki Fukami 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872)
• Co-Investigator(Kenkyū-buntansha): 小堀 善友 獨協医科大学, 医学部, 非常勤講師 (50566560) ; 淺原 弘嗣 東京医科歯科大学, 大学院医歯学総合研究科, 教授 (70294460)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: ゲノム / 性染色体 / 不妊症

Outline of Final Research Achievements

In this study, we analyzed the function and structure of the Y chromosome by analyzing human samples using new genome analysis technologies. As a result, we found that more than 50% of Japanese men carry structural polymorphisms in the AZF region of the Y chromosome. In addition, our data highlighted the importance of Y chromosome structural polymorphisms as a genetic cause of non-obstructive azoospermia. Furthermore, we found that structural polymorphisms of the Y chromosome AZF region do not increase the risk for mosaic Y chromosome loss in the somatic cells. On the other hand, we identified no male-specific growth genes on the Y chromosome, suggesting that other factors are likely involved in sex differences in height.

Free Research Field

人類遺伝学

Academic Significance and Societal Importance of the Research Achievements

Y染色体はヒトゲノムのなかで難読領域であり、その構造や遺伝子はいまだ完全に解明されていない。Y染色体が男性の表現型を支配するメカニズムには不明な点が多い。本研究によって、Y染色体AZF領域の構造多様性と生殖機能障害におけるこの領域の構造多型の重要性が明確となった。これは、基礎研究のみならず、不妊症の診療にも役立つ成果である。