Analisis Pengaruh Mutasi Titik pada Faktor Transkripsi Gen HNF4A (Hepatocyte Nuclear Factor 4-Alpha) - Melinda Remelia; Silvia T. Widyaningtyas (Majalah Kedokteran UKI, 2019)
AbstrakMutasi titik pada basa nukleotida yang ke-370 pada gen hepatocyte nuclear factor 4-alpha (HNF4A) diketahui menyebabkan sindrom renal Fanconi. Penelitian molekular terhadap mutasi tersebut masih perlu dikembangkan untuk pencegahan dan terapi. Sejumlah perangkat lunak dapat digunakan untuk analisis bioinformatika sebelum dilakukan penelitian molekular. Pada penelitian ini, dilakukan prediksi struktur sekunder protein, analisis enzim restriksi, serta analisis perubahan struktur tiga dimensi protein yang dihasilkan. Informasi yang diperoleh menunjukkan perubahan satu basa nukleotida tersebut mempengaruhi karakteristik protein yang dihasilkan melalui analisis komposisi protein. Perubahan struktur sekunder berkaitan dengan perubahan fungsi biologis gen HNF4A sebagai DNA binding pada proses transkripsi. Analisa struktur tiga dimensi menampilkan beberapa perubahan interaksi antar asam amino pada protein HNF4A yang termutasi.Kata kunci: HNF4A, mutasi titik, sindrom renal fancony AbstractPoint mutations in the 370th nucleotide base in the hepatocyte nuclear factor (HNF4A) gene are known to cause renal Fancony syndrome. Molecular research on these mutations still needs to be developed for the prevention and therapy. A number of software can be used for bioinformatics analysis before molecular research is conducted. We predicted the secondary structure of the protein, analyzed restriction enzymes, and analyzed the changes in the three-dimensional structure of the protein produced. The information obtained shows how changes in one nucleotide base affect the characteristics of the protein produced through analysis of protein composition. Changes in secondary structure are related to changes in the biological function of the HNF4A gene as DNA binding in the transcription process. Three-dimensional structure analysis shows some changes in interactions between amino acids in mutated HNF4A proteins.Keywords: HNF4A, point mutation, renal fancony syndrom