Chromosomes 2 Flashcards

1
Q

Name 5 Cis-acting non coding and not transcribed parts of the chromome

A
Enhancers
Silencers
Telomeres
Centromeres
Insulators
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2
Q

Name the trans-acting, non coding, transcribed

A

RNA

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3
Q

tRNA
What is the main role?
What are the other roles?

A

Main role= protein translation
Other role= adaptive protein synthesis
regulatory networks

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4
Q

rRNA

What is its main role?

A

Used during ribosomes biogenesis and translation

Used as riboenzymes

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5
Q

How long are long non-coding RNA?
What do they mostly contain?
What is their suggested function?

A

longer than 200 nt
mostly contain poly-A tails

epigenetic gene regulation -lnc DNA

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6
Q

What is the suggested function of cRNA?

A

binds to chromatin to modulate expression

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7
Q

How small are small Non-coding RNAs?

What is its role?

A

Smaller than 200 nt
mostly contain poly A tials

mainly regulatory and binds to target mRNAs leading to degradation or translation inhibition

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8
Q

What common feature to Transospons, LINES and SINES hvae ?

A

Mutagenic and important for genome evolution

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9
Q

What is a mutation?

What 2 ways can they occur?

A

ANY change in DNA base sequences

They can be heritable - occurring in the germ-line cell
OR transient -occurring in the somatic cell

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10
Q

Name 3 examples of point mutations

A

Insertions
Deletions
Substitutions

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11
Q

Name 4 larger mutations

A

Insertions
Duplications
Translocations
Deletions

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12
Q

How does mutation happen in terms of the mechanism of point mutation?

A

Mutagen can cause DNA damage or DNA base sequence error which is multiplied by DNA replication. It can be fixed by DNA replication

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13
Q

How does insertions and deletions occur ?

A

Due to errors in replication

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14
Q

What errors can occur during the mechanism of Chromosomal rearrangements?

A

DNA breakage/Illegitimate crossing over

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15
Q

What are the 3 type of mutagens and what mutations can they create?

A

Physical- large double-stranded breaks
Chemical- smaller mutations
Biological- large mutations

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16
Q

Define Transposable elements

A

Mutagenetic engines.

Mobile DNA elements that move from one place to another in the genome.

17
Q

What are the two classes of Transposable elements?

A

Class I- Retrotransposons

Class II- DNA transponsons

18
Q

Define mutagens

A

Any physical, chemical or biological agent that raises the frequency of mutations above the spontaneous rate

19
Q

What enzymes do Transposable elements use?

A

Transposase enzymes

20
Q

How does Class I transposable elements use the copy + paste mechanism?

A

First transcription with a RNA intermediary then reverse transcription with a DNA intermediary and then integration.

21
Q

How does Class II transposable elements use the copy + paste mechanism?

A

Excision with DNA intermediary then integration

22
Q

Transposons are common in the genome- why?

A

They are destructive but also crucial for evolution for the traits in mammals and humans

23
Q

Name 3 examples of diseases caused by transposons

A

Vision
Starch digestion
Memory evolution

24
Q

What is the human mutation rate?

How does this compare to other organisms ?

A

1 mutations per 1 BILLION bps in humans

LOWEST mutation rate in any organism

25
Q

Describe the eye colour mutation

A

Eye colour due to amount of melanin.
Little/no melanin= blue
lots= brown
OCA2 determines melanin, mutations are in noncoding region

HERC2 non coding mutation influences OCA2 expression

26
Q

Name the 4 common genetic variants

A

SNPs – Single Nucleotide Polymorphisms
DIPs/InDels – Deletion-Insertion Polymorphisms
SSR – Simple Sequence Repeats
CNV – Copy Number Variants

27
Q

What does SNP stand for?

What is their size and frequency?

A

SNPs – Single Nucleotide Polymorphisms

1bp
1 per 1kb

28
Q

What does DIP/InDels stand for?

What is their size and frequency?

A

DIPs/InDels – Deletion-Insertion Polymorphisms

1-100bp
1 per 10 kb

29
Q

What does SSR stand for?

What is their size and frequency?

A

SSR – Simple Sequence Repeats

1-10bp repeat unit
1 per 30kb

30
Q

What does CNV stand for?

What is their size and frequency?

A

CNV – Copy Number Variants

10bp-1Mb
1 per 3 Mb

31
Q

What can you use to find your common maternal and paternal ancestor?

A

Maternal=mitochondria

Paternal= Y chromosome