|
|
|
|
STIM1 and SLC24A4 Are Critical for Enamel Maturation
|
|
|
|
|
|
|
|
نویسنده
|
wang s. ,choi m. ,richardson a.s. ,reid b.m. ,seymen f. ,yildirim m. ,tuna e. ,gençay k. ,simmer j.p. ,hu j.c.
|
|
منبع
|
journal of dental research - 2014 - دوره : 93 - شماره : 7_suppl - صفحه:94S -100S
|
|
چکیده
|
Dental enamel formation depends upon the transcellular transport of ca2+ by ameloblasts,but little is known about the molecular mechanism,or even if the same process is operative during the secretory and maturation stages of amelogenesis. identifying mutations in genes involved in ca2+ homeostasis that cause inherited enamel defects can provide insights into the molecular participants and potential mechanisms of ca2+ handling by ameloblasts. stromal interaction molecule 1 (stim1) is an er transmembrane protein that activates membrane-specific ca2+ influx in response to the depletion of er ca2+ stores. solute carrier family 24,member 4 (slc24a4),is a na+/k+/ca2+ transporter that exchanges intracellular ca2+ and k+ for extracellular na+. we identified a proband with syndromic hypomaturation enamel defects caused by a homozygous c to t transition (g.232598c > t c.1276c > t p.arg426cys) in stim1,and a proband with isolated hypomaturation enamel defects caused by a homozygous c to t transition (g.124552c > t; c.437c > t; p.ala146val) in slc24a4. immunohistochemistry of developing mouse molars and incisors showed positive stim1 and slc24a4 signal specifically in maturation-stage ameloblasts. we conclude that enamel maturation is dependent upon stim1 and slc24a4 function,and that there are important differences in the ca2+ transcellular transport systems used by secretory- and maturation-stage ameloblasts. © 2014,international & american associations for dental research. all rights reserved.
|
|
کلیدواژه
|
amelogenesis imperfecta; calcium; inherited diseases; mutations; tooth
|
|
آدرس
|
department of biologic and materials sciences,university of michigan school of dentistry,1210 eisenhower place,ann arbor,mi,united states,oral health sciences program,university of michigan school of dentistry,1011 north university,ann arbor,mi, United States, department of biomedical sciences,college of medicine,seoul national university,275-1 yongon-dong,chongno-gu,seoul 110-768,south korea,department of genetics,howard hughes medical institute,yale university,school of medicine,333 cedar street,new haven, United States, department of biologic and materials sciences,university of michigan school of dentistry,1210 eisenhower place,ann arbor,mi, United States, department of biologic and materials sciences,university of michigan school of dentistry,1210 eisenhower place,ann arbor,mi, United States, department of pedodontics,istanbul university,faculty of dentistry,istanbul, Turkey, department of pedodontics,istanbul university,faculty of dentistry,istanbul, Turkey, department of pedodontics,istanbul university,faculty of dentistry,istanbul, Turkey, department of pedodontics,istanbul university,faculty of dentistry,istanbul, Turkey, department of biologic and materials sciences,university of michigan school of dentistry,1210 eisenhower place,ann arbor,mi, United States, department of biologic and materials sciences,university of michigan school of dentistry,1210 eisenhower place,ann arbor,mi, United States
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|