ANALISIS BIOINFORMATIKA MUTASI S228I PROTEIN PCNA DAN PENGARUHNYA PADA STRUKTUR 3 DIMENSI PROTEIN

Syarifah Dewi

Sari


Abstrak

Proliferating cell nuclear antigen (PCNA) adalah protein penjepit DNA yang meningkatkan efektivitas kerja DNA polimerase eukariot. Protein ini mempunyai struktur berbentuk cincin yang mengelilingi DNA dan meningkatkan processivity pada proses replikasi DNA. Mutasi titik pada gen PCNA manusia, Ser228Ile, akan menghasilkan kelainan autosomal resesif dengan gejala penyakit gangguan perbaikan kerusakan DNA seperti Xeroderma pigmentosum, Cockayne syndrome, dan Ataxia telangiectasia. Mutasi ini letaknya berdekatan dengan dengan situs pengikatan protein pengikat PCNA. Mutasi Ser228Ile pada protein PCNA akan menyebabkan perubahan pada struktur IDCL (interdomain connecting loop) dan PIP-binding pocket sehingga mengganggu pengikatan protein ligan ke PCNA dan fungsinya yang sebagian besar berhubungan dengan proses replikasi dan perbaikan DNA

 

Kata kunci: analisis, bioinformatika, dimensi protein


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