Epigenetics in Human Health and
Disease Questions and answers
Genome - ✅✅100s of Epigenomes
DNA - ✅✅2 meters of DNA
Cell nucleus - ✅✅1/100,000th of a meter
Histone tail modifications - ✅✅But a different epigenome
RNA interference - ✅✅A process involved in gene regulation
DNA methylation - ✅✅A key epigenetic modification
Epigenetics - ✅✅Epigenetic modifications mediate changes in gene expression in the absence of
change to underlying DNA sequence
Chromatin - ✅✅A mixture of DNA and proteins that form the chromosomes
Nucleosome - ✅✅The basic packing unit of genomic DNA built from histone proteins around which
DNA is coiled
Histone - ✅✅A protein that provides structural support for a chromosome
Histone tail - ✅✅Flexible regions that protrude from the nucleosome core
Post-translational Modifications (PTMs) - ✅✅Covalent modification of specific amino acids in the
Histone tail
Types of PTMs - ✅✅Methylation, phosphorylation, acetylation, ubiquitylation, SUMOylation,
glycosylation, and ADP-ribosylation
HACs/HDACs/HMTs - ✅✅Enzymes that write or erase histone tail PTMs
The histone code - ✅✅Posttranslational modifications with functional consequences
DNA Methylation - ✅✅5-methyl Cytosine 'the fifth base'
CpG site - ✅✅5'—Cytosine—phosphate—Guanine—3'. The primary site where DNA methylation
occurs.
CpG island - ✅✅Regions of high CpG density. Found at ~30% of all gene promoters
5mC - ✅✅A methylated cytosine
DNMT - ✅✅DNA methyltransferase
Disease Questions and answers
Genome - ✅✅100s of Epigenomes
DNA - ✅✅2 meters of DNA
Cell nucleus - ✅✅1/100,000th of a meter
Histone tail modifications - ✅✅But a different epigenome
RNA interference - ✅✅A process involved in gene regulation
DNA methylation - ✅✅A key epigenetic modification
Epigenetics - ✅✅Epigenetic modifications mediate changes in gene expression in the absence of
change to underlying DNA sequence
Chromatin - ✅✅A mixture of DNA and proteins that form the chromosomes
Nucleosome - ✅✅The basic packing unit of genomic DNA built from histone proteins around which
DNA is coiled
Histone - ✅✅A protein that provides structural support for a chromosome
Histone tail - ✅✅Flexible regions that protrude from the nucleosome core
Post-translational Modifications (PTMs) - ✅✅Covalent modification of specific amino acids in the
Histone tail
Types of PTMs - ✅✅Methylation, phosphorylation, acetylation, ubiquitylation, SUMOylation,
glycosylation, and ADP-ribosylation
HACs/HDACs/HMTs - ✅✅Enzymes that write or erase histone tail PTMs
The histone code - ✅✅Posttranslational modifications with functional consequences
DNA Methylation - ✅✅5-methyl Cytosine 'the fifth base'
CpG site - ✅✅5'—Cytosine—phosphate—Guanine—3'. The primary site where DNA methylation
occurs.
CpG island - ✅✅Regions of high CpG density. Found at ~30% of all gene promoters
5mC - ✅✅A methylated cytosine
DNMT - ✅✅DNA methyltransferase
