STIM1 and SLC24A4 Are Critical for Enamel Maturation

Journal of Dental Research

Volumn 93, Issue , 2014, Pages 94S-100S

  Wang, S ^a   Choi, M ^b,c   Richardson, A S ^a   Reid, B M ^a   Seymen, F ^d   Yildirim, M ^d   Tuna, E ^d   Gencay K ^d   Simmer, J P ^a   Hu, J C ^a  

^a UNIVERSITY OF MICHIGAN SCHOOL OF DENTISTRY   (United States)

^b Seoul National University   (South Korea)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ISTANBUL UNIVERSITY   (Turkey)

Author keywords

amelogenesis imperfecta; calcium; inherited diseases; mutations; tooth

Indexed keywords

ALANINE; ANTIPORTER; ARGININE; CYSTEINE; CYTOSINE; MEMBRANE PROTEIN; SLC24A4 PROTEIN, HUMAN; STIM1 PROTEIN, HUMAN; THYMINE; TUMOR PROTEIN; VALINE;

AMELOBLAST; ANIMAL; CALCIUM SIGNALING; CASE REPORT; CHILD; CONSANGUINITY; ENAMEL HYPOPLASIA; FEMALE; GENETIC VARIABILITY; GENETICS; HOMOZYGOTE; HUMAN; MISSENSE MUTATION; MOUSE; PEDIGREE; PHYSIOLOGY; PRESCHOOL CHILD; TOOTH DEVELOPMENT;

ALANINE; AMELOBLASTS; AMELOGENESIS; ANIMALS; ANTIPORTERS; ARGININE; CALCIUM SIGNALING; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CYSTEINE; CYTOSINE; DENTAL ENAMEL HYPOPLASIA; FEMALE; GENETIC VARIATION; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MICE; MUTATION, MISSENSE; NEOPLASM PROTEINS; PEDIGREE; THYMINE; VALINE;

EID: 84964314391     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034514527971     Document Type: Article

References (25)

1. Aoba T Moreno EC (1987). The enamel fluid in the early secretory stage of porcine amelogenesis: chemical composition and saturation with respect to enamel mineral. Calcif Tissue Int 41: 86-94.
2. Bohm J Chevessier F Maues De Paula A Koch C Attarian S Feger C. (2013). Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 92: 271-278.
3. Borke JL Zaki A el-M Eisenmann DR Mednieks MI (1995). Localization of plasma membrane Ca2+ pump mRNA and protein in human ameloblasts by in situ hybridization and immunohistochemistry. Connect Tissue Res 33: 139-144.
4. Feske S (2009). ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+ entry in the immune system and beyond. Immunol Rev 231: 189-209.
5. Feske S Gwack Y Prakriya M Srikanth S Puppel SH Tanasa B. (2006). A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 441: 179-185.
6. Fuchs S Rensing-Ehl A Speckmann C Bengsch B Schmitt-Graeff A Bondzio I. (2012). Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol 188: 1523-1533.
7. Hu P Lacruz RS Smith CE Smith SM Kurtz I Paine ML (2012). Expression of the sodium/calcium/potassium exchanger, NCKX4, in ameloblasts. Cells Tissues Organs 196: 501-509.
8. Lacruz RS Smith CE Bringas P Jr Chen YB Smith SM Snead ML. (2012). Identification of novel candidate genes involved in mineralization of dental enamel by genome-wide transcript profiling. J Cell Physiol 227: 2264-2275.
9. Lytton J (2007). Na+/Ca2+ exchangers: three mammalian gene families control Ca2+ transport. Biochem J 406: 365-382.
10. McCarl CA Picard C Khalil S Kawasaki T Rother J Papolos A. (2009). ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol 124: 1311-1318.e7.
11. Muik M Fahrner M Schindl R Stathopulos P Frischauf I Derler I. (2011). STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation. EMBO J 30: 1678-1689.
12. Munhoz CO Leblond CP (1974). Deposition of calcium phosphate into dentin and enamel as shown by radioautography of sections of incisor teeth following injection of 45Ca into rats. Calcif Tissue Res 15: 221-235.
13. Okumura R Shibukawa Y Muramatsu T Hashimoto S Nakagawa K Tazaki M. (2010). Sodium-calcium exchangers in rat ameloblasts. J Pharmacol Sci 112: 223-230.
14. Parry DA Poulter JA Logan CV Brookes SJ Jafri H Ferguson CH. (2013). Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet 92: 307-312.
15. Picard C McCarl CA Papolos A Khalil S Luthy K Hivroz C. (2009). STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med 360: 1971-1980.
16. Reith EJ Schmid MI Boyde A (1984). Rapid uptake of calcium in maturing enamel of the rat incisor. Histochemistry 80: 409-410.
17. Riazuddin SA Shahzadi A Zeitz C Ahmed ZM Ayyagari R Chavali VR. (2010). A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet 87: 523-531.
18. Schultz JM Yang Y Caride AJ Filoteo AG Penheiter AR Lagziel A. (2005). Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med 352: 1557-1564.
19. Simmer JP Papagerakis P Smith CE Fisher DC Rountrey AN Zheng L. (2010). Regulation of dental enamel shape and hardness. J Dent Res 89: 1024-1038.
20. Singaravelu K Nelson C Bakowski D de Brito OM Ng SW Di Capite J. (2011). Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria. J Biol Chem 286: 12189-12201.
21. Smith CE (1998). Cellular and chemical events during enamel maturation. Crit Rev Oral Biol Med 9: 128-161.
22. Stephan AB Tobochnik S Dibattista M Wall CM Reisert J Zhao H (2011). The Na(+)/Ca(2+) exchanger NCKX4 governs termination and adaptation of the mammalian olfactory response. Nat Neurosci 15: 131-137.
23. Varga-Szabo D Braun A Kleinschnitz C Bender M Pleines I Pham M. (2008). The calcium sensor STIM1 is an essential mediator of arterial thrombosis and ischemic brain infarction. J Exp Med 205: 1583-1591.
24. Wang SK Choi M Richardson AS Reid BM Lin BP Wang SJ. (2014). ITGB6 loss of function mutations cause autosomal recessive amelogenesis imperfecta. Hum Mol Genet 23: 2157-2163.
25. Winkfein RJ Szerencsei RT Kinjo TG Kang K Perizzolo M Eisner L. (2003). Scanning mutagenesis of the alpha repeats and of the transmembrane acidic residues of the human retinal cone Na/Ca-K exchanger. Biochemistry 42: 543-552.