| Project/Area Number |
24657005
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Genetics/Genome dynamics
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| Research Institution | Kyushu University |
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Principal Investigator |
TAHIRA Tomoko 九州大学, 生体防御医学研究所, 講師 (50155230)
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| Co-Investigator(Kenkyū-buntansha) |
KUKITA Yoji 地方独立行政法人大阪府立病院機構大阪府立成人病センター(研究所) (60372744)
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| Co-Investigator(Renkei-kenkyūsha) |
YAMAMOTO Ken 九州大学, 生体防御医学研究所, 准教授 (60274528)
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| Research Collaborator |
WAKE Norio 九州大学, 環境発達医学研究センター, 特任教授 (60091584)
HAYASHI Kenshi 九州大学, 生体防御医学研究所, 名誉教授 (00019671)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Keywords | ヒトゲノム構造多様性 / ハプロタイプ / 遺伝子多様性 |
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| Research Abstract |
Structural variants (SVs) account for significant portion of genomic variability, but still remain difficult to map. Delineating SVs from sequence reads of diploid cells are difficult, because most of the SVs are heterozygous, and defining the haplotypes of overlapped SV regions directly from the read data are inherently unsolvable. Genomes of complete hydatidiform moles (CHMs) derived from single sperms are genome-widely homozygous and can provide definitive haplotype information of SVs. Our initial plan was to assemble whole human genome de novo by sequencing several CHMs. However, it turned out that paralogous sequences cannot be precisely mapped even by current technology of massively parallel sequencing. Thus we changed our focus to define breakpoints of SVs detected by microarray analysis of 84 CHM samples. We studied SVs in pharmacogenes and identified new deletion between GSTA1 and GSTA2 that produced a hybrid gene by non-allelic homologous recombination.
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