[Genetic variability of the oxytocine receptor: an in silico study]. / Az oxitocinreceptor genetikai variabilitásának in silico elemzése.

ABSTRACT

UNLABELLED There is an ongoing extensive study on the polymorphisms of the oxytocine receptor (OXTR) gene and their relation to certain psychological traits and psychiatric disorders, however the results are contradictory. One of the sources of inconsistency could originate from the fact that the OXTR gene contains more than 270 SNPs (single nucleotide polymorphisms) without clarified molecular effect. GOALS The aim of this study was an in silico analysis of sequence variations between the human and dog OXTR gene. RESULTS: Comparative analysis of the human and the dog OXTR amino acid sequence revealed that the most robust difference between the two proteins is a five amino acid containing fragment which is present in the human but absent in the dog receptor. In silico addition of this sequence to the dog receptor resulted in a dramatic change in the conformation of the intracellular region. CONCLUSION: In silico comparative analysis of OXTR gene variants among species and individuals might serve as an important cue for predicting the functional effects of genetic variants.