CRISPR/Cas9-mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits.

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Tytuł:: CRISPR/Cas9-mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits.
Autorzy:: Zhang Y; Key Laboratory of Zoonosis Research Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun, China.
Yang J; Key Laboratory of Zoonosis Research Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun, China.
Yao H; Key Laboratory of Zoonosis Research Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun, China.
Zhang Z; Key Laboratory of Zoonosis Research Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun, China.
Song Y; Key Laboratory of Zoonosis Research Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun, China.
Źródło:: Journal of cellular and molecular medicine [J Cell Mol Med] 2022 Nov; Vol. 26 (22), pp. 5670-5679. Date of Electronic Publication: 2022 Oct 27.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: Oxford, England : Wiley-Blackwell
Original Publication: Bucharest : "Carol Davila" University Press, 2000-
MeSH Terms:: CRISPR-Cas Systems*/genetics
Amelogenesis Imperfecta*/genetics
Amelogenesis Imperfecta*/pathology
Humans ; Mice ; Animals ; Rabbits ; Proteins/genetics ; Tooth Calcification ; Hair/pathology
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Grant Information:: 2019YFA0110702 National Key Research and Development Program of China Stem Cell and Translational Research; 32000359 National Natural Science Foundation of China
Contributed Indexing:: Keywords: CRISPR/Cas9 system; abnormal mineralization; amelogenesis imperfecta; hair defects; rabbits
Substance Nomenclature:: 0 (Proteins)
0 (FAM83H protein, human)
Entry Date(s):: Date Created: 20221027 Date Completed: 20221118 Latest Revision: 20221222
Update Code:: 20240105
PubMed Central ID:: PMC9667525
DOI:: 10.1111/jcmm.17597
PMID:: 36300761
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Family with sequence similarity 83 members H (Fam83h) is essential for dental enamel formation. Fam83h mutations cause human amelogenesis imperfecta (AI), an inherited disorder characterized by severe hardness defects in dental enamel. Nevertheless, previous studies showed no enamel defects in Fam83h-knockout/lacZ-knockin mice. In this study, a large deletion of the Fam83h gene (900 bp) was generated via a dual sgRNA-directed CRISPR/Cas9 system in rabbits. Abnormal tooth mineralization and loose dentine were found in homozygous Fam83h knockout (Fam83h -/- ) rabbits compared with WT rabbits. In addition, reduced hair follicle counts in dorsal skin, hair cycling dysfunction and hair shaft differentiation deficiency were observed in Fam83h -/- rabbits. Moreover, X-rays and staining of bone sections showed abnormal bending of the ulna and radius and an ulnar articular surface with insufficient trabecular bone in Fam83h -/- rabbits. Taken together, these data are the first report of defective hair cycling, hair shaft differentiation and abnormal bending of the ulna and radius in Fam83h -/- rabbits. This novel Fam83h -/- rabbit model may facilitate understanding the function of Fam83h and the pathogenic mechanism of the Fam83h mutation.
(© 2022 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.)

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