ArticleScientific reports2016
Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient.Human genome variation · 2026Article
- NovelChildren (Basel, Switzerland) · 2024Article
- Narrating the Genetic Landscape of Human Class I Occlusion: A Perspective-Infused Review.Journal of personalized medicine · 2023Article
- Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.Genes & genomics · 2023Article
- Identification of novel candidate genes implicated in odontogenic potential in the developing mouse tooth germ using transcriptome analysis.Genes & genomics · 2021Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- Genome Editing: A New Horizon for Oral and Craniofacial Research.Journal of dental research · 2019Review
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Authors and funding
9 authors at 1 institution in 1 country.
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Abstract
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.
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