Ajit Kumar Saxena, Veena Singh, Aprajita, Aniket Kumar, Meenakshi Tiwari, Pritanjali Singh, Chandan K Singh and Ramanuj K
Genetic variants of transforming growth factor beta receptors type-1 (TGF-βR1) are involved in cellular signalling pathway and their mutations encoded amino acids involved in protein structure has not been defined. Present study evaluate the frequency of TGF-βR1 gene mutation, copy number variation (CNV) and DNA sequencing for nucleotide changes followed by prediction of 3D protein model for ligand binding sites. Clinically diagnosed cases of Wilm’s tumour were used for genetic studies using RT-PCR for determine the frequency of gene mutations, CNVs and changes in nucleotide were observed by DNA sequencing (Sanger’s method). Frequency of TGF-βR1 gene mutation was 18.18% observed in WT cases with respect to controls. Similarly, the Tm value (mean) was 90.70 shifted to 91.0 showing significant differences (p=0.24) and C.I. at 95% varying between 2.09-7.09 with copy number variations showing S.D=0.37 and C.I. at 95% 0.337- 0.906. Sequencing data reveals the appearance of two nucleotide sequences TGA→TCA and TGA→CCC, which translates amino acid serine and proline, respectively and consider as “stop codon”. Further mutations were indentified in the form of Insertion/Deletions and 3-D helical structure was predicted for the ligand binding capacity to develop new molecules for cancer therapeutics based on pharmacogenomics.
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