*genome Evolution And Multigene Famillies Flashcards

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1
Q

How can using synteny blocks help understand chromosomal rearrangements in evolution

A

Synteny blocks comparing genomes shows the homologous genes in different organisms

Those with less regions of synteny show chromosomal rearrangements via evolution

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2
Q

Name 4 main ways chromosomes rearrange

A

1- reciprocal translocation

2- chromosome fusion

3- robertsonian translocation

4- inversion

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3
Q

What is reciprocal translocation as a method of chromosomal rearrangements

A

Where 2 non homologous chromosomes exchange fragments of genes

Eg like in meiosis

Can produce unbalanced meiotic products

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4
Q

Acute myeloid leukaemia is an example of reciprocal translocation as genes on 8 and 21 exchanged. How is this causing problems

A

The Gene for AML transcription factor is replaced with an ETO fusion protein which interferes with the transcription factors function

The transcription factors function therefore not working and rbc don’t get produced

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5
Q

What is a dominant negative mutation

A

Where an altered product of reciprocal recombination eg the eto protein in AML act antagonistically to the genes allele and interests with the function

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6
Q

How is chromosome fusion an example of chromosomal recombination

A

Where 2 telocentric chromosomes fuse to produce 1 chromosomes

This person now has 45 chromosomes instead

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7
Q

What is robertsonian translocation and why doesn’t it result in any genetic material loss

A

Where short arms of 2 Acrocentric chromosomes are lost and the chromosome then fuses producing 45 chromosomes in karyotype

No genetic material is lost as the P arm doesnt have much genetic material just repeats

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8
Q

What happens due to robertsonian translocation during meiosis

A

Aneuploidy or trisomy generated

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9
Q

What is the difference between para centric and Pericentric inversions of genes (another type of chromosome rearrangement)

A

Para centric is where inversion of genes occurs in 1 arm of chromosome

Pericentric is where inversion occurs involving both arms and centromere

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10
Q

How do chromosomal rearrangements occur ?

A

By random in errors in eg dna replication, recombination and repair processes

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11
Q

What 2 ways could you increase genome complexity

A

Either small gene duplications

Or duplications of entire genomes

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12
Q

How is crossover and sister chromatids exchange unequal?

A

When the 2 sister chromatids line up the repeating units of dna dont line up correctly

When the strands break on non sister chromatids there is unequal number of repeating units transferred

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13
Q

Why is duplication of a whole gene favourable in terms of selective pressures and natural selection

A

They will have an extra set of genes. This means that when a mutation occurs in one gene to perform another function, the other gene is still conserved and retains old function

= better suited

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14
Q

What are multigene families and how do they come about

A

Where duplication events with of full genome or regions cause multiple genes

These genes then evolve by mutation to have specialised functions (paralogue)

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15
Q

How are hox genes an example of a multi gene family where there are alterations between genes and expression

A

Hox genes are found in clusters on chromosomes

They encode for transcription factors needed for expression of genes in different times in development

They are all evolved from eachother to encode transcription factors at different parts of development depending where on the cluster they are located

Eg first gene will be expressed first

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16
Q

Haemoglobin genes are an example of duplication events causing multigene families. Explain how

A

During development we have different genes expressed

In foetus they have HbF genes (gamma and alpha genes expressed) better affinity for oxygen

Whereas when adult you need less affinity so we get HbA genes (both alpha and beta tetramers)

= evolutionary advantage

17
Q

What is thalassemia

A

Disorder where there is unequal production of globins a and b due to mutations

18
Q

What is the homeobox

A

Nucleotides that encode for the dna binding part of transcription factors allowing gene expression

19
Q

What is the homeodomain encoded by the homeobox genes (hox)

A

The dna binding domain of transcription factors so they can regulate gene expression