Abstract:
:Gnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare skeletal disorder which is mainly characterized by cemento-osseous lesions in mandibles, bone fragility, bowing and diaphyseal sclerosis of tubular bones. GDD is caused by point mutations in Anoctamin-5 (ANO5); however, the disease mechanisms remain unclear. Here we generated Ano5-knockout (KO) mice using a CRISPR/Cas 9 approach to study loss of function aspects of GDD mutations. Homozygous Ano5 knockout mice (Ano5-/-) replicate some typical traits of human GDD including massive jawbones, bowing tibia, sclerosis and cortical thickening of femoral and tibial diaphyses. Serum alkaline phosphatase (ALP) levels were elevated in Ano5-/- mice as in GDD patients. Calvaria-derived Ano5-/- osteoblast cultures show increased osteoblastogenesis, which is consistent with our previous in vitro observations. Bone matrix is hypermineralized, and the expression of bone formation-related factors is enhanced in Ano5-/- mice, suggesting that the osteogenic anomaly arises from a genetic disruption of Ano5. We believe this new mouse model will shed more light on the development of skeletal abnormalities in GDD on a cellular and molecular level.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Wang X,Liu X,Dong R,Liang C,Reichenberger EJ,Hu Ydoi
10.1007/s00223-019-00528-xsubject
Has Abstractpub_date
2019-06-01 00:00:00pages
679-689issue
6eissn
0171-967Xissn
1432-0827pii
10.1007/s00223-019-00528-xjournal_volume
104pub_type
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journal_title:Calcified tissue international
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