Epigenetics Flashcards
Acetylation enzymes? What gets acetylated?
of histone
- HAT acetylates lysine
- HDAC deacetylates
Where on DNA does methylation occur?
CpG island cytosine
DMR
differentially methylated regions
occurs within an imprinted region (different methylation patterns)
Imprinting disease example
15q11. 2 mutation –> 2 different syndromes
- normal: maternal strand has methylation that allows for UBE3A expression; paternal strand has no methylation
- Prader-Willi: paternal alleles not expressed (del, maternal UPD, paternal methylation)
- Angelman: loss of UBE3A (del, LOF at UBE3A, no methylation, paternal UPD)
somatic mosaicism mechanisms
long ncRNA coats X gene –> inactivation
miRNA in epigenetics?
miRNA binding –> reduced transcription
regulated by CpG island methylation
target for cancer therapy
piRNA role in epigenetics
transcriptional silencing during spermatogenesis