Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors

Background/Aim. The group of genes, known as PAX (paired box), has a great role in organogenesis, as well as in maintaining the normal function of certain cells after the birth. In addition to these genes, the impact on the organogenesis, at the cellular level, has a transmembrane tetratricopeptid group of genes (TMTC). The term polymorphism in the human genome implies variations in the hereditary basis that occur in human populations, the presence of two or more different alleles of one genome in the population. The aim of the work was to determine whether there is an association of PAX3 and TMTC2 genes polymorphism with changes of the face morphology after skin tumor excision and direct suture closure. Methods. The study included 130 patients of both sexes, older than 50 years, with the medical indication for the elliptical surgical excision of the skin tumor. DNA was isolated from 5 mL of peripheral blood. Gene polymorphisms were analyzed with pre-designed single nucleotide polymorphisms (SNP) assays, by allelic discrimination method on REAL-TIME apparatus. The patients were subjected to a laser scanning preoperatively, and 7 and 90 days postoperatively, in order to obtain x, y and z coordinates of 5 cephalometric points on the face, which determined the shape of the medial cheek region. The shape of the medial cheek region, as well as the coordinates of 5 cepahlometric points, were compared among genotypes of both genes preoperatively, as well as 7 days and 90 days postoperatively. Results. A statistically significant difference in the shape of the medial cheek region between wildtype and mutant of PAX3 gene was found preoperatively, while the statistically significant difference in the shape of the medial cheek region was not found between wild-type and heterozygote, nor between wild-type and heterozygote and mutant of PAX3 gene, nor among genotypes of TMTC2 gene. Seven days and 90 days postoperatively, there were no statistically significant differences in the shape of the examined region among genotypes of both genes. Conclusion. Polymorphisms of PAX3 and TMTC2 genes are not associated with the change in the face morphology after the skin tumor excision and direct suture closure of the defect.

Pax3 Gene Regulated Melanin Synthesis by Tyrosinase Pathway in Pteria penguin

The paired-box 3 (Pax3) is a transcription factor and it plays an important part in melanin synthesis. In this study, a new Pax3 gene was identified from Pteria penguin (Röding, 1798) (P. penguin) by RACE-PCR (rapid-amplification of cDNA ends-polymerase chain reaction) and its effect on melanin synthesis was deliberated by RNA interference (RNAi). The cDNA of PpPax3 was 2250 bp long, containing an open reading fragment of 1365 bp encoding 455 amino acids. Amino acid alignment and phylogenetic tree showed PpPax3 shared the highest (69.2%) identity with Pax3 of Mizuhopecten yessoensis. Tissue expression profile showed that PpPax3 had the highest expression in mantle, a nacre-formation related tissue. The PpPax3 silencing significantly inhibited the expression of PpPax3, PpMitf, PpTyr and PpCdk2, genes involved in Tyr-mediated melanin synthesis, but had no effect on PpCreb2 and an increase effect on PpBcl2. Furthermore, the PpPax3 knockdown obviously decreased the tyrosinase activity, the total content of eumelanin and the proportion of PDCA (pyrrole-2,3-dicarboxylic acid) in eumelanin, consistent with influence of tyrosinase (Tyr) knockdown. These data indicated that PpPax3 played an important regulating role in melanin synthesis by Tyr pathway in P. penguin.