Question 1

Outline the major global changes in DNA methylation that occur during mammalian gametogenesis and early embryonic development.

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Question 2

List four types of epigenetic phenomena that involve DNA or chromatin modification

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Question 3

DNA methylation is one epigenetic mechanism where it is easy to appreciate how the pattern of epigenetic settings is stably inherited from one cell generation to the next. What are the features of the DNA methylation mechanism that suggest this?

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Question 4

According to the manner in which they work, three main classes of proteins that modify chromatin are recognized. What are these three classes and explain, with examples, what distinguishes the individual classes.

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Question 5

Angelman and Prader-Willi syndromes are very different disorders that can be caused by the precisely the same deletion on chromosome 15. How is that possible?

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Question 6

List two examples of DNA-binding motifs commonly found in protein transcription factors. How do they bind to DNA?

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Question 7

How common is RNA editing in human cells and what types of RNA editing are seen?

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Question 8

The pseudogene PTENP1 is an example of a functional pseudogene that has an important role in gene regulation. Explain what its role is.

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Question 9

A classical position effect means that a gene can be partly or fully silenced simply if it is moved to a different chromosomal location. Explain how this happens.

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Question 10

Match individual variant histones i) to iv) to one or more of the possible functions listed in
a) to
g).

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Question 11

In some imprinting disorders the normal allele of an imprinted gene locus is inactivated (so that both alleles are silenced). Illustrate how this happens in Angelman and Prader-Willi syndromes.

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Question 12

What are the principal functions of DNA methylation in mammalian cells?

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Question 13

Splice junction sequences show a certain degree of sequence conservation. Give consensus sequences for the splice donor and splice acceptor sequences.

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Question 14

Give four examples of different ways in which the active allele at an imprinted locus is known to be inactivated or not inherited in an imprinting disorder.

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Question 15

Circular RNAs are very common in human cells. A human fibroblast, for example, has about 25,000 different circular RNAs. What is the role of these RNAs?

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Question 16

The nuclear genome in our cells makes four types of RNA polymerase, a simple RNA polymerase that is imported into mitochondria and is dedicated to transcribing mitochondrial DNA plus three types of multi-subunit RNA polymerase that transcribe nuclear DNA sequences. What types of DNA sequence are transcribed by the different nuclear RNA polymerases.

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Question 17

In Beckwith-Wiedemann syndrome an allele that is normally epigenetically silenced is somehow expressed, resulting in biallelic expression. Illustrate how the expression of relevant genes is altered to cause the disease.

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Question 18

Rett syndrome is a classic chromatin disease. What is meant by a chromatin disease and what are the characteristics of Rett disease?

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Question 19

How does uniparental diploidy occur in humans, and what are the consequences?

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Quiz 6: Principles of Gene Regulation and Epigenetics