Regulatory Regions and Introns Flashcards

1
Q

What are promoters - 1 and what do they determine ?

A
  1. They are regulatory regions of DNA upstream of a gene, which provide a control point for regulated gene transcription
  2. Determine when and where gene is expressed
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2
Q

What is the core promoter and where is it located ?

A

Is the minimal portion of the promoter required to properly initiate transcription.
Located around position -34.

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3
Q

What is the proximal promoter and what’s it called ?

A

Is the proximal sequence upstream of the gene that contains primary regulatory elements. Located around position -250

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4
Q

What is the distal promoter ?

A

Is a very ill-defined area which can range from beyond the 5’ end of the gene up to and even into the next gene.

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5
Q

What are 3 other control elements ?

A

Enhancers, silencers and insulators

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6
Q

What is an enhancer ?

A

Is a short region of DNA that can bind activator proteins to trigger the transcription of a gene.

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7
Q

What are 6 reasons why enhancers are important ?

A

1) Important role in the evolution of species
2) Developmental biology - development, differentiation and growth of cells and tissues
3) Invertebrate segmentation - creation of different zones
4) Vertebrate patterning - Body axis anteroom-posterior and left-right
5) Developmental robustness - survival of fruit flies when environmental disturbances take place
6) Developmental mechanisms - limb development, wing pattern evolution

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8
Q

What are promoter silencer ?

A

-DNA sequences that bind repressor proteins that inhibit expression
-Act in the opposite way to enhancers
-Can reduce or totally inhibit expression
-Sequence can be anywhere in the promoter
- Binding of repressor protein inhibits RNApol complex formation
- Can be caused by bending the DNA

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9
Q

How is the neuronal- restrictive silencer factor a promoter silencer example ?

A
  • Its produced by the REST gene
  • Repress the transcription of neuronal genes in non-neural cells
  • When the silencer represses REST, NRSF is also inhibited - which allows the transcription of neuronal genes.
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10
Q

What are promoter insulators -1 ?

A
  • ## Are genetic boundary elements that block the action of enhancers
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11
Q

What does promoter insulators-1 determine ?

A

They determine the set of genes and enhancer can influence

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12
Q

What do promoter insulators-1 stop enhancers doing ?

A

Working on adjacent genes

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13
Q

Where are promoter insulator-1 present ?

A

They are present at the boundary of topological association domains which divide the chromosome in “ chromosome neighbourhoods”

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14
Q

How do promoter insulator-1 act ?

A

Act by loops

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15
Q

What do promoter insulators-1 prevent the spread of heterochromatin from ?

A

Froms a silenced gene to an actively transcribed gene

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16
Q

What are transposons ?

A
  1. DNA sequence that can change its position within the genome.
17
Q

What is the role of transposons ?

A

Can create mutations and alter the size of a genome transposition often results in a duplication of the transposon.

18
Q

What are the 2 different types of transposons ?

A

1- Class 1 or retrotransposons
2 - Class 11 ( DNA transposons )

19
Q

What are retrotransposons ?

A

Copy and paste - copied in 2 stages DNA to RNA - RNA is reverse transcribed to DNA
a. Transposons with long terminal repeats
b. Line l
c. SINEs

20
Q

What is Class 11 transposons ?

A

Cut and paste - does not involve RNA intermediate. The transpositions are catalysed by several transposes enzymes.

21
Q

What are TEs and what disease can they cause ?

A

TE’s are mutagens that can damage the genome and produce diseases like haemophilia A and B, severe combined immunodeficiency, porphyria, predisposition to cancer, and Duchenne muscular dystrophy

22
Q

What are epigenetic mechanisms-1 ?

A
  • ## Variations that are caused by external or environmental factors
23
Q
A