Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia
| Autor: | Z. Xu, Claudia Isabel Contreras, Shuo Chen, Kevin J. Donly, Y. Mu, Jennifer S. McDaniel |
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| Rok vydání: | 2012 |
| Předmět: |
Male
animal structures Sequence analysis Molecular Sequence Data Bone Morphogenetic Protein 2 Single-nucleotide polymorphism Bone Morphogenetic Protein 4 Oligodontia Biology Polymorphism Single Nucleotide Article Polymorphism (computer science) Genotype Genetics Humans Missense mutation Family Genetic Predisposition to Disease Amino Acid Sequence RNA Messenger Allele Mexico Molecular Biology Gene Alleles Anodontia Base Sequence fungi Sequence Analysis DNA General Medicine Molecular biology biological factors Pedigree Radiography Phenotype embryonic structures Nucleic Acid Conformation Female |
| Zdroj: | Genetics and Molecular Research. 11:4110-4120 |
| ISSN: | 1676-5680 |
| DOI: | 10.4238/2012.september.25.5 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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