Genetic and enviromental interaction for the etiology of craniofacial defect
| Project/Area Number |
16K15836
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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 |
Orthodontics/Pediatric dentistry
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| Research Institution | Osaka University |
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Principal Investigator |
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| Research Collaborator |
NAKAYA AKIHIRO
KIKUCHI MASATAKA
MASHIMO TOMOJI
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2018: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 顎顔面形成不全 / ゲノム / 稀少疾患 / 多因子性疾患 / レチノイン酸シグナル / 口唇口蓋裂 / エタノール / 遺伝的要因 / 環境的要因 / アルコール / 顎顔面発生 / 遺伝 / 環境因子 |
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| Outline of Final Research Achievements |
Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. Cleft palate (CP) is one of the most common congenital craniofacial anomalies in humans and can be caused by either single or multiple genetic and environmental factor(s). In this research project we have performed multiple exome sequencing in familial craniofacial disorders. From this analysis, we discovered novel single nucleotide mutation which causes amino acid transition in DLC1 (Deleted in Liver Cancer 1) in two independent families. We have also identified novel gene mutation which is related to PTH signaling pathway in familial craniosynostosis.
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| Academic Significance and Societal Importance of the Research Achievements |
胎生期における顎顔面の形成は複雑かつ精巧に行われ、その発生過程の不具合は口唇口蓋裂等の顎顔面形成不全の原因となる。同疾患は多因子性疾患であり、胎生期における遺伝的要因と環境的要因に大きな影響を受けて発病する事が知られている。本研究では顎顔面形成不全に関わる新規遺伝子変異を多数同定した。この事は将来的な同疾患の新規診断法報や治療方法の確立に大きく寄与する。
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Report
(4 results)
Research Products
(36 results)
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[Journal Article] A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features2019
Author(s)
Murata Y, Kurosaka H, Ohata Y, Aikawa T, Takahata S, Fujii K, Miyashita T, Morita C, Inubushi T, Kubota T, Sakai N, Ozono K, Kogo M, Yamashiro T.
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Journal Title
Human Genome Variation
Volume: 6
Issue: 1
Pages: 16-16
DOI
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Peer Reviewed / Open Access
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[Presentation] Novel mutation of DLC1 in familial cleft palate case2017
Author(s)
Yanran Wu, Qi Wang, Chisato Morita, Akihiro Nakaya, Atsuko Okazaki, Kaori Kobayashi, Masataka Kikuchi, Tomoji Mashimo, Yoshihiro Uno, Shinya Oki, Takashi Yamashiro
Organizer
Gordon Research Conference Craniofacial Morphogenesis and Tissue Regeneration
Related Report
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