Lecture 3 Flashcards

(37 cards)

1
Q

DNA… Is fixed across the same species but…changes

A

Quantity
Sequence

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2
Q

DNA. Repair percent

A

90-99

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3
Q

Methylation is an….that does not…..
Function
Can cause….
What is it..

A

Epigenetic modification
Follow genetics rules
Controls gene expression
Mutations
Adding methyl group to cytosine

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4
Q

5 methyl cytosine is a ….
Its ….in genomes is…
Associated with gene…

A

Post synthetic modification
Distribution variable
Repression

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5
Q

Animal cytosine
Plants cytosine

A

CpG
CNG

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6
Q

What is Dnmt1
Has very strong preference to

A

DNA methyltransferase enzyme that adds methyl groups to DNA bases
Already methylated CpG on the other strand

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7
Q

Methylation pattern is
Lack of dnmt1 causes

A

Inherited
Embryonic lethality

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8
Q

Dnmt3a and dnmt3b have the ability to

A

DeMethylate and introduce de novo methylations in gametogenesis

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9
Q

Absence of dnmt3
Dnmt3b function
Deficiency

A

Lethal
Methylates centromeric regions
Deficiency causes ICF syndrome

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10
Q

Methylation sequence during mammalian development

A

Preimplantation low
Implantation high

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11
Q

Rett syndrome

A

Mutations in MeCP2 gene that reads and binds to methylated DNA

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12
Q

CpG islands are….. regions rich in
Associated with
Exceptions when it is methylated

A

CG normally unmethylated
Gene promoters
Inactive x chromosome at dose compensation
Imprinted genes that either 1 copy is active (mother or father)

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13
Q

L1 and IAP retrotransponsons are never

A

DNA sequences that move around the genome but cant once methylated

Unmethylated

Inherited demethylated from mother then methylated

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14
Q

Alu
Why

A

Inherited methylated from mother but unmethylated from father then remethylated
Gene regulation and genomic stability

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15
Q

Methylation amount in different organisms

A

Caenorhabditis undetected
Drosophila very low
Mammals 2-7%
Plant 33%

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16
Q

5methylcytosine in vertebrates vs invertebrates

A

genes in unmethylated
Gene can be found in methylated (invertebrates)

17
Q

Deamination

A

Amino grp removed from base
DNA:
cytosine>uracil (not a normal base usually fixed )
5methylcytosine>thymine

18
Q

4 values of methylation

A

1.Cancer related (hypermethylation in tumor suppressor or hypomethylation in oncogenes)
2.satellites and heterochromatin DNA heavily methylated demethylated will cause decondensation and genomic instability as well as alter gene expression
3. Transposons inactivation
4. Hybrid marsupials failure of methylation leads to chromosomal remodelling and activation of retroviral elements

19
Q

Transponsons what are they
Use
Danger
Other name

A

Replicate and jump from one part to another in the DNA
Evolution and genetic diversity
Too much activity will cause genetic instability and disease
Interspersed repetitive sequence

20
Q

Failure in methylation in hybrid marsupials can cause

A

Activation to retroviral elements and cause chromosome remodeling

21
Q

The C value paradox
DNA is …grams and….m
Variation in … does not equal…
Example

A

Amount of DNA in a haploid cell does not relate to organism complexity
6-7pg. 2m
Size, variation in general
Syntenic genes in pufferfish and human

22
Q

Gene number is …..than the total DNA
Percentage

A

Less than
5800 to 39000
Only 10% of total genome

23
Q

The larger the genome the….the…

A

Larger the repetition

24
Q

Repetitive DNA types
Regarded as
Except

A

Tandem block
Interspersed throughout but not block
Junk
Telomeres a d drosophila heterochromatin

25
Satellite types
Mini, VNTR 10-100 0.5-30kb Micro no more than 6 usually 2 or 3 in all organisms distributed throughout the chromosme Less common in coding regions and telomeres Calssiccal
26
Classical satellites Number Percent Several...can...in the same... Rich in Very short repeats cause...
2-7bp 2 crab 6 mammals 7 drosophila Can be up to half the genome Types occur block AT and CG than main band Strand asymmetry difference between the 2 strands
27
Some defects
Unequal crossing over due to repeated sequnce Gene conversion Replication slippage
28
What is gene conversion
DNA sequence replaces a homologous sequence so that they become exact
29
Repeated genes What are they Often concentrated in... Like
RNA/ 5S rRNA/tRNA/ histones Genes with products req in large quantities which are kept identical Specific regions of the chromosomes 18s and 28 s
30
Protein families
Globins each with a distinct function do not form clusters Homeobox genes are related in function and forms clusters
31
What is ICF syndrome
Immunodeficiency Centromeric instability and facial anomalies A disease of DNA methylation
32
There is....in bothe the amount of DNA between species and its ....within individuals
Extensive variation Sequence
33
C value paradox the ..of DNA in...
Amount Haploid genome
34
Tandem repeats are referred to as
Satellites
35
The most common dinucleotide in human and drosophila is... Plants..
CA GA/AT
36
Microsatellites are less common in...
Coding regions And telomeres
37
Damage agent repair Pyrimidine dimer Alkylation and depurination Mispaired bases
UV- photorepair Chemicals-excision repair Replication errors-mismatch repair