徳島大学 教育・研究者情報データベース(EDB)

1. ミツイ アカギ シルビア ナオミ

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2. 泰江 章博

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3. 増田 清士

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4. 成戸 卓也

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5. 峯岸 克行([徳島大学.先端酵素学研究所.重点研究部門])

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6. 親泊 政一([徳島大学.先端酵素学研究所.重点研究部門])

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7. 野地 澄晴

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8. 井本 逸勢

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9. 田中 栄二([徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.臨床歯学系.口腔顎顔面矯正学])

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(英) Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.

(英) Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1 was targeted in mice with CRISPR/Cas system. Although heterozygous MH6 disruption did not alter craniofacial development, homozygous mice exhibited agenesis of lower incisors with or without cleft palate at E16.5. In addition, agenesis of the upper third molars and the lower second and third molars were observed in 4-week-old mutant mice. Although the upper second molars were present, they were abnormally small. These results suggest that the C-terminal domain of MSX1 is important for tooth and palate development, and demonstrate that that CRISPR/Cas system can be used as a tool to assess causality of human disorders in vivo and to study the importance of conserved domains in genes.

1. (英) PublicationType: Journal Article