Genome sequence analysis of the subtelomeric regions to understand the etiology of subtelomere-related syndromes.
| Project/Area Number |
17K08690
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Kuroki Yoko 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 室長 (10344037)
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| Project Period (FY) |
2017-04-01 – 2022-03-31
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| Project Status |
Completed (Fiscal Year 2021)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | サブテロメア / ゲノム難解読領域 / ロングリードシークエンサー / 次世代シークエンサー / 散財性反復配列 / サブテロメア欠失症候群 / 多発奇形 / 精神遅滞 / 散在性反復配列 / ゲノム難解読 / ロングリードシークエンス / サブテロメア関連疾患 |
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| Outline of Final Research Achievements |
We carried out the genome analysis of the human subtelomeric regions. The purpose of this study is to elucidate the etiology of the subtelomere-related syndromes and to examine the diversity of subtelomere genomic structures. The subtelomeric clones which have been obtained by PCR-based screening from human chromosome-specific genome libraries, and these clones were sequenced for both ends of the inserted sequence. Then, the forty clones which located in subtelomeric regions and seems to have novel sequence were analyzed by the long read sequencer. Although obtained sequences were assembled for each clone, it was unable to construct a precise and a high-quality data by itself. Therefore, the short read sequence data were added to the long read data, the precise and single contig sequence were constructed for each clone. To identify genome diversity, we will examine the sequence similarity to the assembled data against the several genome reference data set which are already published.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究では、ヒトゲノムの難解読領域の一つであるサブテロメア領域を対象として、高精度なゲノム配列データの取得及びこの領域における疾患との関連性を明らかにすることを目指して解析を行なった。サブテロメア領域は、多くの反復配列が存在することから、これまで十分な解析が行われず、ゲノム多様性や疾患との関連性は明らかになっていない。本研究で得られる配列データと既に公開されているヒトゲノム参照配列の比較解析をすることにより、サブテロメア領域のゲノム多様性の一端が明らかになる。また、ヒトのサブテロメア領域におけるゲノム多様性の解明は、将来的にサブテロメア関連疾患の原因究明に繋がることが期待される。
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Report
(6 results)
Research Products
(3 results)
