Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia

Abstract FAM20C mutations in humans cause Raine syndrome and our previous studies showed that global inactivation of mouse Fam20C led to bone and dental defects. By crossbreeding 2.3  kb Col 1a1-Cre mice with Fam20C flox/flox mice, we created 2.3  kb Col 1a1-Cre;Fam20C foxl/flox (cKO) mice, in which...

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Autores principales: Peihong Liu, Su Ma, Hua Zhang, Chao Liu, Yongbo Lu, Li Chen, Chunlin Qin
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Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/c1d982c6916d4be18fc9de7cc858b32d
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spelling oai:doaj.org-article:c1d982c6916d4be18fc9de7cc858b32d2021-12-02T12:31:58ZSpecific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia10.1038/s41598-017-03960-x2045-2322https://doaj.org/article/c1d982c6916d4be18fc9de7cc858b32d2017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-03960-xhttps://doaj.org/toc/2045-2322Abstract FAM20C mutations in humans cause Raine syndrome and our previous studies showed that global inactivation of mouse Fam20C led to bone and dental defects. By crossbreeding 2.3  kb Col 1a1-Cre mice with Fam20C flox/flox mice, we created 2.3  kb Col 1a1-Cre;Fam20C foxl/flox (cKO) mice, in which Fam20C was inactivated in cells expressing Type I collagen. This study showed that the long bones of cKO mice were shorter and had a lower level of mineralization compared to the normal mice. The collagen fibrils in Fam20C-deficient bone were disorganized and thicker while the growth plate cartilage in cKO mice was disorganized and wider compared to the normal mice. The Fam20C-deficient bone had a lower level of dentin matrix protein 1, and higher levels of osteopontin and bone sialoprotein than the normal. The blood of cKO mice had an elevated level of fibroblast growth factor 23 and reduced level of phosphorus. These findings indicate that inactivation of Fam20C in cells expressing type I collagen led to skeletal defects and hypophosphatemia. The altered levels of dentin matrix protein 1 and osteopontin in Fam20C-deficient bone may be significant contributors to the mineralized tissue defects in human patients and animals suffering from the functional loss of FAM20C.Peihong LiuSu MaHua ZhangChao LiuYongbo LuLi ChenChunlin QinNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Peihong Liu
Su Ma
Hua Zhang
Chao Liu
Yongbo Lu
Li Chen
Chunlin Qin
Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
description Abstract FAM20C mutations in humans cause Raine syndrome and our previous studies showed that global inactivation of mouse Fam20C led to bone and dental defects. By crossbreeding 2.3  kb Col 1a1-Cre mice with Fam20C flox/flox mice, we created 2.3  kb Col 1a1-Cre;Fam20C foxl/flox (cKO) mice, in which Fam20C was inactivated in cells expressing Type I collagen. This study showed that the long bones of cKO mice were shorter and had a lower level of mineralization compared to the normal mice. The collagen fibrils in Fam20C-deficient bone were disorganized and thicker while the growth plate cartilage in cKO mice was disorganized and wider compared to the normal mice. The Fam20C-deficient bone had a lower level of dentin matrix protein 1, and higher levels of osteopontin and bone sialoprotein than the normal. The blood of cKO mice had an elevated level of fibroblast growth factor 23 and reduced level of phosphorus. These findings indicate that inactivation of Fam20C in cells expressing type I collagen led to skeletal defects and hypophosphatemia. The altered levels of dentin matrix protein 1 and osteopontin in Fam20C-deficient bone may be significant contributors to the mineralized tissue defects in human patients and animals suffering from the functional loss of FAM20C.
format article
author Peihong Liu
Su Ma
Hua Zhang
Chao Liu
Yongbo Lu
Li Chen
Chunlin Qin
author_facet Peihong Liu
Su Ma
Hua Zhang
Chao Liu
Yongbo Lu
Li Chen
Chunlin Qin
author_sort Peihong Liu
title Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
title_short Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
title_full Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
title_fullStr Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
title_full_unstemmed Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
title_sort specific ablation of mouse fam20c in cells expressing type i collagen leads to skeletal defects and hypophosphatemia
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/c1d982c6916d4be18fc9de7cc858b32d
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