Epigenetics

MED 111 2020-2021

Syncronous Lecture

Özden Hatırnaz Ng, PhD

Dept. of Medical Biology
 Learning outcomes
• To define epigenetics
• To define different epigenetic mechanisms
• To explain how epigenetics influence gene
regulation
• Defining different epigenetic modifications
• Describing genomik impriting and X
inactivation
 What is epigenetics?
• The latin word epi= on/over/ in addition to
• Epigenetics; any factor that can affect gene function
without changing the genotype
• Modifications are reversable but heritable
EPIGENETICS

Gene
Expression
Histone modifications
Histone acetylation
DNA Methylation
 DNA Methylation

The process is maintaned by DNA methyltransferases

DNMT1, DNMT3a and DNAMT3b
CpG island and
 CpG Islands

Mostly located at the promoter regions

Robertson, Nature Reviews Genetics, Vol6, 597
DNA Methylation is also important in…

• Genomic Imprinting
– Differential gene expression depending on the sex

• X-inactivation
– In females only one X is active
 Genomic Imprinting
• Genomic imprinting: is the phenomenon of different
expression of alleles depending on the parent of origin
Imprinted Regions among the genome

Maternally
imprintted

Paternally
imprintted
Imprinting occurs in the gamets before fertilization
Imprinting is reversible
 X Inactivation

• In females there are two X chromosomes but only one is

fully active
X inactivation is (generally) random
X-inactivation mechnanism
Skewed X inactivation
Non coding RNAs
 miRNAs
• Non coding RNA sequences
• Single stranded RNA fragments around 23-25 nucleotides
miRNA processing

Esquela-Kerscher, A., and Slack, F.J. (2006). Nature Reviews 6, p. 263

Control of transcription by miRNA
lncRNAs (Long non-coding RNAs)

-
Control of transcription by lncRNA
 inhibiting the transciption machinery assembly

Directly regulating the gene

Remodeling the chromation
For any questions you can always reach me via email:

ozden.hatirnaz@acibadem.edu.tr