incomplete penetrance, variable expressivity, allelic and genetic heterogeneity, phenocopies (people have disease for reasons not necessarily genetic)
Proportion of disease variation due to genetics trait; difference largely due to genes. Example: looking at how much genes play a role in height of a population
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Q
Charatacteristics of epigenetics? (4)
Analogies used to explain this? (2)
Best example of epigenetics?
4 other examples?
A
Different expression from same genome, inheritance through cell division (feast vs. famine example), on/off switch, erasable which is important b/c gene therapy is so tough
Waddington’s boulder, lights board
Stem cells –> different adult cells
demethylation, methylation, maintenece methyl transferase after somatic cell division, packaing DNA into chromatin
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Q
H3 modification that occurs?
Inheritance state of H3?
Non-nuclear epigenetics with cancer?
Silencing with tumor supressor gene? Possible treatment?
A
Repress = methylation; activate = acetylation
H3 modified post replication
Switch involving NfKb
With age, TSG is methylated and eventually silenced; lung cancers myeloid neoplams treated with DNA methyl transferase and deacetyl transferase inhibition to turn on TSG