Telomere function in premature aging phenotypes of BubR1 deficiency
| Project/Area Number |
15K15082
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pathological medical chemistry
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| Research Institution | Hiroshima University |
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Principal Investigator |
MATSUURA SHINYA 広島大学, 原爆放射線医科学研究所, 教授 (90274133)
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| Co-Investigator(Kenkyū-buntansha) |
宮本 達雄 広島大学, 原爆放射線医科学研究所, 講師 (40452627)
柳原 啓見 広島大学, 原爆放射線医科学研究所, 助教 (50719474)
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Keywords | 細胞老化 / モデル生物 / モデル動物 |
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| Outline of Final Research Achievements |
Germline mutations that reduce BubR1 induce premature ageing phenotypes in mice. However, the molecular mechanism underlying the premature ageing phenotypes remain incompletely understood. The aim of this study is to study whether ageing phenotypes are associated with instability of telomeres. We generated the human mutation (1833delT) knock-in mice. During this process, we obtained a mouse carrying a 12-bp deletion (Δ608-611 LAST) in exon 15 of BubR1. No homozygous mice for 1833delT were generated, suggesting that complete BubR1 deficiency causes the embryonic lethality. On the other hand, compound heterozygotes for 1833delT and the 12-bp deletion were generated according to the Mendelian inheritance. However, accelerated aging was not observed in these mice before the age of 5 months.
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Report
(3 results)
Research Products
(23 results)
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[Journal Article] Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa2016
Author(s)
Sasaki T, Hanisch FG, Deutzmann R, Sakai LY, Sakuma T, Miyamoto T, Yamamoto T, Hannappel E, Chu ML, Lanig H, von der Mark K
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Journal Title
Matrix Biol
Volume: 56
Pages: 132-149
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Presentation] A combined approach of exome sequencing and genome editing identified WDR62/MCPH2 mutations in patients with primary microcephaly2016
Author(s)
Tatsuo Miyamoto, Yoshinori Masatsuna, Akihiro Fukumitsu, Silvia Natsuko Akustu, Kosuke Hosoba, Hiroyuki Morino, Hideshi Kawakami, Takashi Yamamoto, Kenji Shimizu, Hirofumi Ohashi, Shinya Matsuura
Organizer
ASHG2016 (Vancouver)
Place of Presentation
Vancouver（カナダ）
Year and Date
2016-10-18
Related Report
Int'l Joint Research
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