EPIGENETIK DAN

BIOINFORMATIKA
Mitayani, dr.
OUTLINE
• Epigenetik
• Bioinformatika
EPIGENETIK
• Epi : over, above, outside of

• Genetics is the study of heritable changes in gene

activity or function due to the direct alteration of
the DNA sequence.
EPIGENETIK
• Adalah suatu studi yang mempelajari perubahan
aktivitas gen yang bukan disebabkan oleh
perubahan pada sekuens DNA
CONTOH SEHARI-HARI
• Kembar identik (monozigot) dapat memiliki
penampakan yang berbeda akibat pengaruh
lingkungan
MEKANISME EPIGENETIK
Ada 3 mekanisme pada proses epigenetik:
1. Metilasi DNA
2. Modifikasi histon
3. MicroRNA
METILASI DNA
• the transfer of a methyl group onto the C5
position of the cytosine to form 5-
methylcytosine.
• DNA methylation is essential for silencing
retroviral elements, regulating tissue-specific
gene expression, genomic imprinting, and X
chromosome inactivation.
• The majority of DNA methylation occurs on
cytosines that precede a guanine nucleotide or CpG
sites.
• The enzymes that establish, recognize, and remove
DNA methylation are broken into three classes:
writers, erasers, and readers.
• Writers are the enzymes that catalyze the addition of
methyl groups onto cytosine residues.
• Erasers modify and remove the methyl group.
• Readers recognize and bind to methyl groups to
ultimately influence gene expression.
MODIFIKASI HISTON
• Chromatin is made of repeating units
of nucleosomes, which consist of 146
base pairs of DNA wrapped around
an octamer of four core histone
proteins (H3, H4, H2A and H2B)
www.nature.com
MACAM-MACAM MODIFIKASI HISTON
1. Asetilasi histon
2. Fosforilasi histon
3. Metilasi histon
4. Deiminasi
5. Beta N asetilglukosamin
6. Ribosilasi ADP
7. Ubiquitilasi
8. Sumoylasi
9. Histon tail clipping
MEKANISME MODIFIKASI HISTON
1. Modifikasi langsung mempengaruhi
struktur kromatin .
2. Modifikasi yang mengatur pengikatan
molekul efektor.

Perubahan pada modifikasi histon

dikaitkan dengan instabilitas genom,
gangguan segregasi kromosom, dan
kanker.
MIKRO RNA (miRNA)
• Non-coding protein
• Berukuran kecil (± 22 nukelotida)
• Berfungsi sebagai regulator negatif bagi suatu gen
• Ditemukan di dalam semua sel eukariotik.
• Mekanisme: berikatan secara komplementer pada
mRNA target sehingga terjadi represi translasi dan
gene silencing.
Kaitan miRNA dengan kasus klinis
MANFAAT EPIGENETIK
Epigenetik dapat
Dimanipulasi sehingga
menjadi target terapi
bagi kasus-kasus yang
terbukti melibatkan
mekanisme epigenetik.

Courtesy of:
http://alexander-
haslberger.at/1/de/epigeneti
cs_/1475/
OUTLINE
• Epigenetik
• Bioinformatika
DEFINISI BIOINFORMATIKA
• Bioinformatics is conceptualizing biology in
terms of macromolecules (in the sense of
physical-chemistry) and then applying
"informatics" techniques (derived from
disciplines such as applied maths, computer
science, and statistics) to understand and
organize the information associated with
these molecules, on a large-scale. (Luscombe et
al, 2001)
CONTOH BIOINFORMATIKA
• Genome browser (www.genome.ucsc.edu)
• www.ncbi.nlm.nih.gov/gene
• http://www.expasy.org/
TERIMA KASIH