Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth

Li-Li Li , Pei-Hong Liu , Xiao-Hua Xie , Su Ma , Chao Liu , Li Chen , Chun-Lin Qin

International Journal of Oral Science ›› 2016, Vol. 8 ›› Issue (2) : 98 -109.

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International Journal of Oral Science ›› 2016, Vol. 8 ›› Issue (2) : 98 -109. DOI: 10.1038/ijos.2016.14
Article

Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth

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Abstract

Loss of the Fam20A gene causes defects in tooth enamel, excessive growth of the gums, and delayed tooth eruption in mice. Mutations in FAM20A have been linked to many of these same dental problems in humans, but the molecular link between the gene and disease was unknown. A team led by Chun-Lin Qin of Texas A&M University Baylor College of Dentistry in Dallas, USA, and Li Chen of the First Affiliated Hospital of Harbin Medical University China generated mouse models to track the expression of Fam20A in dental development and to test the effects of inactivating the gene. They found that cells that deposit tooth enamel began to express the gene in the mandibular first molars within a day of birth and that loss of Fam20A causes dental abnormalities consistent with those seen in humans.

Keywords

conditional knock out mice / enamel / FAM20A / gingival overgrowth / tooth eruption

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Li-Li Li, Pei-Hong Liu, Xiao-Hua Xie, Su Ma, Chao Liu, Li Chen, Chun-Lin Qin. Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth. International Journal of Oral Science, 2016, 8(2): 98-109 DOI:10.1038/ijos.2016.14

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References

[1]

Nalbant D, Youn H, Nalbant SI. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics, 2005, 6: 11.

[2]

Tagliabracci VS, Engel JL, Wen J. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science, 2012, 336(6085): 1150-1153.

[3]

Tagliabracci VS, Wiley SE, Guo X. A single kinase generates the majority of the secreted phosphoproteome. Cell, 2015, 161(7): 1619-1632.

[4]

Wang X, Hao J, Xie Y. Expression of FAM20C in the osteogenesis and odontogenesis of mouse. J Histochem Cytochem, 2010, 58(11): 957-967.

[5]

Du EX, Wang XF, Yang WC. Characterization of Fam20C expression in odontogenesis and osteogenesis using transgenic mice. Int J Oral Sci, 2015, 7(2): 89-94.

[6]

Simpson MA, Hsu R, Keir LS. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet, 2007, 81(5): 906-912.

[7]

Simpson MA, Scheuerle A, Hurst J. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet, 2009, 75(3): 271-276.

[8]

Ababneh FK, AlSwaid A, Youssef T. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Am J Med Genet A, 2013, 161A(12): 3155-3160.

[9]

Takeyari S, Yamamoto T, Kinoshita Y. Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome. Bone, 2014, 67: 56-62.

[10]

Seidahmed MZ, Alazami AM, Abdelbasit OB. Report of a case of Raine syndrome and literature review. Am J Med Genet A, 2015, 167A(10): 2394-2398.

[11]

Wang X, Wang S, Li C. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet, 2012, 8(5): e1002708.

[12]

Wang X, Wang S, Lu Y. FAM20C plays an essential role in the formation of murine teeth. J Biol Chem, 2012, 287(43): 35934-35942.

[13]

Koike T, Izumikawa T, Tamura J. FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region. Biochem J, 2009, 421(2): 157-162.

[14]

Vogel P, Hansen GM, Read RW. Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. Vet Pathol, 2012, 49(6): 998-1017.

[15]

Tian Y, Ma P, Liu C. Inactivation of Fam20B in the dental epithelium of mice leads to supernumerary incisors. Eur J Oral Sci, 2015, 123(6): 396-402.

[16]

Cui J, Xiao J, Tagliabracci VS. A secretory kinase complex regulates extracellular protein phosphorylation. Elife, 2015, 4: e06120.

[17]

O'Sullivan J, Bitu CC, Daly SB. Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet, 2011, 88(5): 616-620.

[18]

Cho SH, Seymen F, Lee KE. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat, 2012, 33(1): 91-94.

[19]

Jaureguiberry G, De la Dure-Molla M, Parry D. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol, 2012, 122(1/2): 1-6.

[20]

Wang SK, Aref P, Hu Y. FAM20A mutations can cause enamel-renal syndrome (ERS). PLoS Genet, 2013, 9(2): e1003302.

[21]

Wang SK, Reid BM, Dugan SL. FAM20A mutations associated with enamel renal syndrome. J Dent Res, 2014, 93(1): 42-48.

[22]

Järvinen E, Salazar-Ciudad I, Birchmeier W. Continuous tooth generation in mouse is induced by activated epithelial Wnt/beta-catenin signaling. Proc Natl Acad Sci USA, 2006, 103(49): 18627-18632.

[23]

Liu F, Chu EY, Watt B. Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol, 2008, 313(1): 210-224.

[24]

Baba O, Qin C, Brunn JC. Colocalization of dentin matrix protein 1 and dentin sialoprotein at late stages of rat molar development. Matrix Biol, 2004, 23(6): 371-379.

[25]

Hu JC, Hu Y, Smith CE. Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice. J Biol Chem, 2008, 283(16): 10858-10871.

[26]

Smith CE, Wazen R, Hu Y. Consequences for enamel development and mineralization resulting from loss of function of ameloblastin or enamelin. Eur J Oral Sci, 2009, 117(5): 485-497.

[27]

Hu JC, Hu Y, Lu Y. Enamelin is critical for ameloblast integrity and enamel ultrastructure formation. PLoS One, 2014, 9(3): e89303.

[28]

Nanci A. Ten Cate's oral histology, 2013 St Louis: Elsevier Mosby 233-249.

[29]

Avery J, Steels P, Avery N. Oral development and histology, 2002 New York: Thieme 123-139.

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