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Exam (elaborations)
Epigenetics of Human Disease Exam 1 Questions and answers
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---26November 20252025/2026A+
- Epigenetics of Human Disease Exam 1 
Questions and answers 
Genetics - The science studying the mechanisms of inheritance in general and genes in particular 
Epigenetics - - The control of gene expression that is not 
accompanied by changes in DNA sequence - Mechanisms of heredity which do not involve modification to DNA sequence and are reversible in 
nature - The study of mitotically and/or meiotically heritable changes in gene function that cannot be explained 
by changes in DNA sequenc...
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Exam (elaborations)
Epigenetics in Human Health and Disease Questions and answers
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---4November 20252025/2026A+
- Epigenetics in Human Health and 
Disease Questions and answers 
Epigenetics 
The study of how the expression of DNA can be changed without changing the structure of the DNA (no 
change in DNA sequence). 
Epigenetic modifications 
Molecular modifications (epigenetic 'tags') to DNA itself or to proteins that provide structure to DNA. 
DNA Methylation 
Transfer of methyl group or 'tag'
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Exam (elaborations)
Epigenetics in Human Health and Disease Questions and answers
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---2November 20252025/2026A+
- Epigenetics in Human Health and 
Disease Questions and answers 
What is an epigenetic modification? - A modification that mediates changes in gene expression in 
the absence of change to the underlying DNA sequence. 
What is: 
Chromatin? 
Nucleosome? 
Histone? 
Histone tail?
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Exam (elaborations)
Epigenetics in Human Health and Disease Questions and answers
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---2November 20252025/2026A+
- 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 scaf
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Exam (elaborations)
Epigenetics in Human Health and Disease Questions and answers
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---4November 20252025/2026A+
- 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 exp
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Exam (elaborations)
Epigenetics in Human Health and Disease Questions and answers
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---2November 20252025/2026A+
- Epigenetics in Human Health and 
Disease Questions and answers 
Epigenetic Modification 
Covalent changes affecting gene expression without DNA sequence alteration. 
DNA Methylation 
Addition of methyl groups to DNA, reversible by demethylation. 
Histone Modification 
Chemical changes to histones affecting DNA packaging and gene expression. 
Acetylation 
Addition of acetyl groups to histones, promoting gene activa
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Exam (elaborations)
Epigenetics in Human Genetics Questions and answers Epigenetics - Chemical or RNA-mediated changes in gene expression, heritable through mitosis or meiosis DNA Methylation - Epigenetic modification not interfering with DNA base pairing, involving DNMT
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---2November 20252025/2026A+
- Epigenetics in Human Genetics 
Questions and answers 
Epigenetics - Chemical or RNA-mediated changes in gene expression, heritable through mitosis or 
meiosis 
DNA Methylation - Epigenetic modification not interfering with DNA base pairing, involving DNMT 
and TET enzymes
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Exam (elaborations)
Epigenetics in Human Genetics Questions and answers
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---2November 20252025/2026A+
- Epigenetics in Human Genetics 
Questions and answers 
Epigenetics - Chemical or RNA-mediated changes in gene expression heritable through mitosis or 
meiosis 
DNA Methylation - Epigenetic modification not interfering with DNA base pairing, involving DNMT 
and TET enzymes
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Exam (elaborations)
Epigenetics in Human Genetics Questions and answers
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---1November 20252025/2026A+
- Epigenetics in Human Genetics 
Questions and answers 
CpG islands - Regions of DNA affecting gene expression and structure 
Methyl cytosine - DNA modification with added CH3 group 
Promoter region - DNA section before a gene, containing CpG islands 
Transcriptional factors - Proteins binding to CG residues, regulating gene
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Exam (elaborations)
Epigenetics in Human Genetic Disorders Questions and answers
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---2November 20252025/2026A+
- Epigenetics in Human Genetic Disorders 
Questions and answers 
Epigenetics - Study of heritable changes to gene expression not dependent on DNA sequence. 
Epigenome - Specific patterns of epigenetic modifications in a cell at a given time. 
Phenotype - Result of interactions between genome and epigenome affecting organism traits. 
Epigenetic Reprogramming - Changes in gene ac
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Exam (elaborations)
Epigenetics in Human Diseases and Cancer Questions and answers
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---5November 20252025/2026A+
- Epigenetics in Human Diseases and 
Cancer Questions and answers 
Key players of genome organization 
Chromatin loops, spatial chromosome organization, chromosome translocations. 
Spatial clustering of genes 
Facilitates expression by enabling shared transcription and processing sites, interactions with distal 
regulatory elements, and proximity of chromosomes. 
Local organization of chromatin loops 
Essential for cell type-specific gene exp
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Exam (elaborations)
Epigenetics in Human Development and Disease Questions and answers
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---2November 20252025/2026A+
- Epigenetics in Human Development and 
Disease Questions and answers 
Epigenetics - Study of gene expression changes without DNA sequence alteration. 
DNA Methylation - Attachment of methyl groups to cytosines in DNA. 
CpG Dinucleotides - Cytosines followed by guanines where methylation oc
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