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GBA Genetics > Epigentics > Flashcards

Epigentics Flashcards

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1
Q

What are the two important criteria of epigenetic changes?

A

Clonal and Revesible

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2
Q

What are the changes in DNA sequence that are done by epigenetic?

A

NO CHANGE IN SEQUENCE

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3
Q

How is the maternal and paternal alleles activity different in epigenetic in contrast to genetics?

A

Epigenetic - Paternal or Maternal

Genetics - Both on or Both off

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4
Q

Epigenetic modifications can be _______ by offsprings.

A

Epigenetic modifications can be Inherited by offsprings.

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5
Q

What are the examples for environmental factors that change the epigenome?

A

Infection, Smoking, Aging, Pollution, Dietary components

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6
Q

Transcriptional Epigenetic mechanisms

A

DNA methylation

Chromatin Modeling

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7
Q

Post-transcriptional epigenetic general mechanism-

A

NcRNA

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8
Q

Post translational epigenetic general mechanism -

A

Histone Modification

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9
Q

What are the targets of DNA Methylation?

A

CpG Islands

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10
Q

What are the 3 important DNA methylation enzymes?

A

DNMT1 - Maintenance of methyltransferases

DNMT3A and DNMT3B - De-Novo methylatransferases

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11
Q

Hypomethylated DNA - Consequence?

A

Genome Instability - Mutation or rearrangements

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12
Q

Hypermethylated DNA - Consequence?

A

Promoter Silencing

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13
Q

Deamination of Methylated DNA - Consequence?

A

Mutation - mCpG to TpG

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14
Q

Methylated DNA with UV light radiation- Consequence?

A

Increased chance for UV-induced mutations

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15
Q

Methylated DNA with carcinogens presence- Consequence?

A

Carcinogen induced mutation - bind easily to the mCpG

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16
Q

PTMs of Histones

A

Acetylated
Methylation
Phosphorylation
Ubiquitinated

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17
Q

What is the consequences possible from PTMs of Histones?

A

Accessibility of Chromatin changes

18
Q

What are the important targets of Histone modifications? AAs

A

K - Lysin

R - Arginine

19
Q

What are the different groups of Histone modifying proteins?

A

Erasers
Writers
Readers

20
Q

Histone code Hypothesis

A

Different combinations of histone modifications (especially next to promotor) may be very specific to the transcriptional state of that gene.

21
Q

Chromatin states

A

Active, Permissive, Repressed, Inactivated

22
Q

What are the two basic kinds of epigenetic ncRNA?

A

Long ncRNA - >200 nt

Short ncRNA - < 200 nt

23
Q

RNA interference (short ncRNA) - Prevention of Translation

A

Gene inactivation (Post-transcriptional, Dicer, RdRP) may be due to endogenous virus, transposing and retroviruses

24
Q

MicroRNA (short ncRNA) - Prevention of Translation

A

20-23 long RNA with RISC navigation to the gene is leading to mRNA degradation or inhibition of translation depending on the complementary match quality.

25
Q

LncRNA are causing prevention of (2) -

A

Transcription

Translation

26
Q

What is possible for a regulation mechanism of LncRNA with Protein?

A

All levels of gene expression regulation

27
Q

X chromosome inactivation - dose compensation

A

Equalize the expression of genes between members of different biological sexes.
Barr body generation.

28
Q

XIST

A

X-inactivated specific transcript

A Long ncRNA transcribed from the X chromosome to be silenced by the same XIST

29
Q

Steps of Barr body formation

A 
XIST expression
Histone modification
Late DNA replication
MacroH2A incorporation
DNA Methylation
30
Q

Types of X chromosome inactivations (XCIs)

A

Random XCI - healthy normal
Skewed fortunate XCI- mostly normal
Skewed unfortunate XCI - mostly mutant
Male XCI - only mutant

31
Q

What is the process that allows for chromosome counting and choice of XCI?

A

Cell Division

32
Q

Autoimmunity and XCI - The connection

A

Thymocytes XCI could cause skewed expression of X linked antigens - T cell maturation alteration.

33
Q

Genomic imprinting

A

Non-equivalent expression of genes on parent of origin

34
Q

Gynogenote and Androgenote

A

Total maternal and paternal forms of fertilized egg not viable for implantation

35
Q

Prader- Willi Syndrome - causes

A

Maternal UPD
Paternal deletion of 15q11-13
Wrong imprinting

36
Q

Angelman Syndrome - Causes

A

Paternal UPD
Maternal deletion of 15q11-13
Wrong imprinting
UBE3A mutation

37
Q

What are the imprinted genes number normal?

A

Around 100

38
Q

What is the function of the imprinted genes?

A

Growth or, and Behavior

39
Q

What are the paternal and maternal genes aim in imprinting in relation to growth (different for each)?

A

Maternal - silence growth promoting genes

Paternal - silence growth reducing genes

40
Q

What are the species that present gnomic imprinting ?

A

Mammals only

41
Q

Loss of imprinting

A

Instead of mono-allelic expression, abnormally biallelic expression or total silencing in cancer!

GBA Genetics (16 decks)

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