Study for chromosomal instability leading to human disorders
| Project/Area Number |
17H03616
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Medical genome science
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Fukami Maki 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)
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| Co-Investigator(Kenkyū-buntansha) |
倉橋 浩樹 藤田医科大学, 総合医科学研究所, 教授 (30243215)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥17,030,000 (Direct Cost: ¥13,100,000、Indirect Cost: ¥3,930,000)
Fiscal Year 2019: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
Fiscal Year 2018: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
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| Keywords | ゲノム / 染色体構造異常 / Ｘ染色体不活化 / 先天奇形 / 遺伝子 |
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| Outline of Final Research Achievements |
This study aimed to clarify novel mechanisms and phenotypic effects of de novo chromosomal abnormalities in the germline. To this end, we performed genome analyses for DNA samples obtained from patients with various types of developmental defects. Our results include (i) characterization of multifocal genomic crisis during spermatogenesis, (ii) determination of the timing of aneuploid rescue in early-stage embryos, (iii) clarification of life-long effects of Y chromosomal abnormalities, (iv) clarification of the effects of sex chromosomal rearrangements on epigenetic status, and (v) identification of a case with autosomal tetrasomy possibly created through incomplete trisomy rescue in micronuclei.
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| Academic Significance and Societal Importance of the Research Achievements |
染色体数あるいは構造の異常は、先天性疾患の原因の一つとして重要である。本研究では、多数の臨床検体の解析を行い、染色体異常の発症機序および臨床症状との関連について検討した。その結果、精子形成過程で染色体構造変化を招く新たなメカニズムが明らかとなった。また、Ｙ染色体の数的変化が生涯にわたって健康に影響を及ぼすことが見出された。本研究の成果は、世代間においてどのように遺伝的情報が伝達され、また変化し得るかを理解するための基盤となる。
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Report
(4 results)
Research Products
(23 results)
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[Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.2019
Author(s)
Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M
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Journal Title
Human Genome Variation
Volume: -
Issue: 1
Pages: 7-7
DOI
Related Report
Peer Reviewed / Open Access
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