Lecture 31 Flashcards
What is the role that epigenetics play in development and differentiation?
X Chromosome: X chromosome has Xist gene; on the inactive X, this is transcribed to lncRNA which coats the inactive X and recruits PRC2, which produces histone modifications on the inactive X
Differentiation: differentiated cells can be reprogrammed through epigenetic changes to form induced pluripotent stem cells (iPSCs)
What is genomic imprinting and how can it be associated with diseases like Prader-Wili syndrome?
Genomic Imprinting: expression of an allele depends on whether it was/is inherited from the male or female parent
Prader-Wili: genomic imprinting is responsible for this; some of the genes are imprinted in the during oogenesis and 1 or 2 are imprinted during spermatogenesis
What is uniparental disomy and how does it cause disease?
Occurs when you inherit 2 copies of a chromosome from one parent via nondisjunction; can lead to PWS if 2 chromosomes are maternal or Angelman if 2 chromosomes are paternal; causes disease because you have an extra chromosome
What is the significance of epigenetic biomarkers for health outcomes prediction - what might insurance companies do with this information?
Can lead to earlier detection or at least identify patients that are at increased risk for developing a disease, which can change treatment and preventative care; insurance companies could charge more for patients at higher risk or refuse coverage alltogether
How is the agouti mouse used as a biosensor for environmental modifiers of the epigenome?
They are exposed to substances commonly found in our environment, such as ethanol and radiation, and then the phenotype changes are observed and the epigenetic changes are also observed
Define epigenome
Overall pattern of chromatin modifications possessed by each individual organism
Is PWS due to paternal or maternal deletion?
Paternal
Is Angelman due to paternal or maternal deletion?
Maternal
