Epigenetics in Human Health and
Disease Questions and answers
homeostasis - ✅✅the body's immediate response to environmental stressors or challenges
epigenetic modification - ✅✅heritable changes in gene expression not accompanied by changes in
DNA sequence; occurs through covalent (molecular) modifications of either DNA itself or the proteins
that form the scaffolding for DNA packaging; can result in a change in phenotype without a change in
genotype
example of epigenetic modification - ✅✅height
gametogenesis - ✅✅formation of the egg and sperm
tags - ✅✅imprints of DNA which result in parent-specific gene expression and are maintained
through mitotic divisions
tagging mechanisms - ✅✅DNA methylation and histone modification
DNA methylation - ✅✅occurs through the transfer of methyl groups directly onto the DNA molecule
by a group of highly conserved enzymes called methyltransferases
demethylation - ✅✅reversal of methylation; reverse repression of gene expression
histones - ✅✅positively charged proteins that help organize genetic material into higher order
structure
x chromosome inactivation (lyonization) - ✅✅the early embryonic process by which one of the X
chromosomes is rendered transcriptionally inactive
mosaic - ✅✅individuals composed of two genetically different cell populations derived from a single
zygote
XIST (X-inactive specific transcript) - ✅✅key inactivation initiation factor; expressed only in cells
which have two X chromosomes; a gene that becomes active on the chromosome that will become the
Barr body, which RNA products attach to
genomic imprinting - ✅✅phenomenon whereby certain genes are expressed dependent upon the
parent of origin' allele that is imprinted is transcriptionally silent
monoallelic expression - ✅✅the expression of a singular gene
monozygotic twins - ✅✅derived from a single zygote, which split into two very early after
fertilization; the result is twins with identical genes
epigenome - ✅✅a multitude of chemical compounds that can tell the genome what to do
Disease Questions and answers
homeostasis - ✅✅the body's immediate response to environmental stressors or challenges
epigenetic modification - ✅✅heritable changes in gene expression not accompanied by changes in
DNA sequence; occurs through covalent (molecular) modifications of either DNA itself or the proteins
that form the scaffolding for DNA packaging; can result in a change in phenotype without a change in
genotype
example of epigenetic modification - ✅✅height
gametogenesis - ✅✅formation of the egg and sperm
tags - ✅✅imprints of DNA which result in parent-specific gene expression and are maintained
through mitotic divisions
tagging mechanisms - ✅✅DNA methylation and histone modification
DNA methylation - ✅✅occurs through the transfer of methyl groups directly onto the DNA molecule
by a group of highly conserved enzymes called methyltransferases
demethylation - ✅✅reversal of methylation; reverse repression of gene expression
histones - ✅✅positively charged proteins that help organize genetic material into higher order
structure
x chromosome inactivation (lyonization) - ✅✅the early embryonic process by which one of the X
chromosomes is rendered transcriptionally inactive
mosaic - ✅✅individuals composed of two genetically different cell populations derived from a single
zygote
XIST (X-inactive specific transcript) - ✅✅key inactivation initiation factor; expressed only in cells
which have two X chromosomes; a gene that becomes active on the chromosome that will become the
Barr body, which RNA products attach to
genomic imprinting - ✅✅phenomenon whereby certain genes are expressed dependent upon the
parent of origin' allele that is imprinted is transcriptionally silent
monoallelic expression - ✅✅the expression of a singular gene
monozygotic twins - ✅✅derived from a single zygote, which split into two very early after
fertilization; the result is twins with identical genes
epigenome - ✅✅a multitude of chemical compounds that can tell the genome what to do
