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8 Cards in this Set
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Defining “epigenetics”:
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Heritable change in the genome.
Not a mutation. Usually reflects gene silencing. Usually involves methylation of DNA. |
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Heritable gene regulation attributable to the gene (i.e., allele) having been received from one parent or the other.
In other words, epigenetics between generations. |
Imprinting:
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Allelic differences in gene repression due to
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imprinting
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nonallelic HOMOLOGOUS recombination” leading to either
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Prader-Willi Syndrome or Angelman’s Syndrome
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Mechanisms of Angelman’s syndrome
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Deletion of UBE3A gene
Other genes are deleted due to the anomalous recombination event but their loss does not cause AS UBE3A encodes a ubiquitin ligase, needed for proper protein degradation The paternal UBE3A gene is silenced in the brain, due to methylation, in turn due to imprinting during development of the male gametes Thus, deletion of the maternal copy means zero UBE3A in the brain and the onset of AS Mutations of UBE3A can also lead to AS |
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What about Prader-Willi syndrome?
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Caused by inheriting the deleted chromosome from the male
Due to lack of snoRNAs! |
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family members may play a role in Alzheimer’s development
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Hsp70
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contain snRNAs that W-C base pair with the mRNA during the course of the splicing reaction.
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snRNPs
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