Mu Y, Xu Z, Contreras C I, McDaniel J S, Donly K J, Chen S
Department of Developmental Dentistry, Dental School, University of Texas, Health Science Center, San Antonio, TX, USA.
Genet Mol Res. 2012 Nov 28;11(4):4110-20. doi: 10.4238/2012.September.25.5.
Both BMP2 and BMP4 are involved in tooth development. We examined phenotypes and BMP2 and BMP4 gene variations in two Mexican oligodontia families. Physical and oral examinations and panoramic radiographs were performed on affected and unaffected members in these two families. The affected members lacked six or more teeth. DNA sequencing was performed to detect BMP2 and BMP4 gene variations. Three single nucleotide polymorphisms (SNPs) in BMP2 and BMP4 genes were identified in the two families, including one synonymous and two missense SNPs: BMP2 c261A>G, pS87S, BMP2 c570A>T, pR190S, and BMP4 c455T>C, pV152A. Among the six affected patients, 67% carried "GG" or "AG" genotype in BMP2 c261A>G and four were "TT" or "AT" genotype in BMP2 c570A>T (pR190S). Polymorphism of BMP4 c455T>C resulted in amino acid changes of Val/Ala (pV152A). BMP2 c261A>G and BMP4 c455T>C affect mRNA stability. This was the first time that BMP2 and BMP4 SNPs were observed in Mexican oligodontia families.
骨形态发生蛋白2（BMP2）和骨形态发生蛋白4（BMP4）均参与牙齿发育。我们研究了两个墨西哥少牙症家族的表型以及BMP2和BMP4基因变异情况。对这两个家族中受影响和未受影响的成员进行了体格和口腔检查以及全景X线片检查。受影响的成员缺失六颗或更多牙齿。进行DNA测序以检测BMP2和BMP4基因变异。在这两个家族中鉴定出BMP2和BMP4基因的三个单核苷酸多态性（SNP），包括一个同义SNP和两个错义SNP：BMP2 c261A>G，pS87S；BMP2 c570A>T，pR190S；以及BMP4 c455T>C，pV152A。在六名受影响的患者中，67%在BMP2 c261A>G中携带“GG”或“AG”基因型，四名患者在BMP2 c570A>T（pR190S）中为“TT”或“AT”基因型。BMP4 c455T>C的多态性导致缬氨酸/丙氨酸（pV152A）的氨基酸变化。BMP2 c261A>G和BMP4 c455T>C影响mRNA稳定性。这是首次在墨西哥少牙症家族中观察到BMP2和BMP4的SNP。
