A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.

摘要: PAX9, a paired domain transcription factor, has important functions in craniofacial and limb development. Heterozygous mutations of including deletion, nonsense, or frameshift that lead to premature stop codon, missense mutations, were previously shown be associated with autosomal dominant oligodontia. Here, we report novel mutation lies the highly conserved PAX9 is non-syndromic oligodontia one family. The mutation, 83G→C, predicted result substitution arginine by proline (R28P) N-terminal subdomain domain. To rule out possibility this rare polymorphism test whether amino acid disrupts protein-DNA binding, analyzed binding wild-type mutant double-stranded DNA targets. R28P dramatically reduces supports hypothesis loss pathogenic mechanism which causes