Meiosis/Mitosis Flashcards

1
Q

Why does meiosis end in haploid cells?

A

To keep the same number of chromosomes from generation to generation

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2
Q

How does meiosis achieve genetic diversity

A

crossing over - chiasmata

random assortment

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3
Q

Define mosaicism, what does degree of mosaicism depend on?

A

Two or more cell lines in an individual - depends on how early in the zygote the mitotic non-disjunction occurs. Earlier = more cells affected

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4
Q

What can non-disjunction in mitosis vs meiosis cause? When is the exception?

A

Mosaicism vs Aneuploidy. If non-disjunction occurs in the first zygotic mitotic division it will appear as aneuploidy not mosaicism.

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5
Q

When is one time you may see monosomy as viable?

A

If it is the X chromosome - Turners Syndrome

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6
Q

Mosaicism is an example of a ________ mutation

A

Somatic

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7
Q

Meiosis error is an example of a ________ mutation

A

Germline

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8
Q

Name 3 consequences (disease etc) of faulty meiosis

A

Miscarriage
Mental retardation
Infertility

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9
Q

Are Kleinfelters and Turners example of mosaicism or aneuploidy? Are they inherited?

A

Can be both. Aneuploidy in meiosis = more symptoms. So can be both germline and somatic mutations. Not inherited. Mostly infertile

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10
Q

What does degree of mosaicism depend on?

A

How early the mutation is - earlier = more cells affected

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11
Q

What is SRY?

A

Sex determining region on Y chromosome.

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12
Q

What are the relevance of PAR regions? What type of gene are they called?

A

PAR1&2 on XY are only regions that should be crossed over during meiosis as only homologous genes. Other genes are sex-linked. They are pseudoautosomal and are the regions that help line up X with Y in meiosis

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13
Q

Which is more severe, aneuploidy in sex chromosomes or autosomes?

A

Autosomes as they are more likely to be genes essential for life. Can survive with 1/3 chromosomes (with 2/3 in normal/Kleinfelters one X is usually inactivated anyway)

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14
Q

What is anaphase lag, what can anaphase lag cause? When is it useful?

A

It is delayed chromosome movement/faulty spindle attachment leading to aneuploidy or mosaicism. It is useful in trisomy rescue as can make the cell normal

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15
Q

What are microtubules made of?

A

Tubulin

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16
Q

What are amplified centrosomes? What can this cause? Why?

A

Increased number of centrosomes making the cell multipolar, happens in cancer cells. They do have a mechanism to help prevent it called clustering - helps reduce aneuploidy so cancer cells can live on. Number of centrosomes at each end determines polarity and where chromosomes will go. Inhibit cancer cell clustering as a therapeutic target - wouldn’t affect cells that don’t cluster i.e normal cells.

17
Q

How would a cancer drug that targets tubulin help treat cancer? e.g. Paclitaxel

A

Microtubules prevented from assembling - Prevents metaphase/anaphase leads to mitotic arrest = prevents division of cancer cells, prolonged cell cycle arrest = apoptosis

18
Q

What is the centrosome made up of?

A

Microtubules/Centrioles etc (whole organelle)

19
Q

How can an increase in centrosomes add to cancer heterogeneity?

A

Increase in centrosomes = multipolar cell division = aneuploidy in cancer cells = mutations and genetic variation = tumour heterogeneity

20
Q

What are 4 things that all lead to cancer plasticity (heterogeneity)?

A
  • Aneuploidy
  • Translocations
  • DNA damage
  • Treatment resistance - mutation
21
Q

Name 3 tumour suppressors

A

APC, p5, BRCA1/2

22
Q

Name 3 Oncoproteins

23
Q

Name two viral proteins that can inactivate p53

24
Q

Do cancer cells have active telomerase? What could you use this for? Whats the risk?

A

Yes - could target in treatment to increase cancer cell genetic instability = apoptosis. Risk of increasing tumour heterogeneity.

25
What is XP Xeroderma Pigmentosa disease? What kind of inheritance?
Autosomal recessive, reduction or elimination of NER DNA damage repair - damage from UV light cannot be repaired = sunburn, skin cancer, sensitive eyes.
26
What is the effect of UV on DNA? which method of DNA damage repair is used to fix this?
Photon of light absorbed by DNA causes a thymine dimer (pyrimidine dimer). These are repaired by NER.
27
What chromosomal mutations could Non-homologous end joining DNA repair lead to (2)?
Inversion, translocation, if two or more DBSs are present in the vicinity
28
Cancer cells are mostly aneuploidy true or false
True
29
Whats the relevance of separase in mitosis?
It is an enzyme that coordinates the loading/unloading of cohesin with the sister chromatids - allows metaphase to occur. Essential for separation of chromosomes
30
What does cohesin do in the cell cycle? Whats its structure? How is it implemented in cancer?
Cohesion holds sister chromatids together & stabilises, it gets cleaved in metaphase. Is a ring. If not cleaved, can cause aneuploidy --> cancer
31
What doe ESCO1/2 do in mitosis? What happens if these are mutated?
Are acetyl transferases. Acetylates SMC3 protein - closes cohesion ring, allows stable association of two sister chromatids. Cancer.
32
What is SMC protein? What is the relevance of SMC in mitosis?
subunits of cohesin - form ring structure with other proteins. Gets acetylated by ESCO1/2 which closes the ring to stabilise sister chromatids
33
Name 6 important proteins involved in chromatid cohesion and separation during mitosis and what they do?
Cohesin - load onto chromosomes -glue chromatids together Separase - enzyme SMC proteins ESCO1/2 - acetyl transferases close cohesin ring, stable association of chromatids Wapl - regulate loading/unloading of cohesin SMC2/3 - get acetylated to close cohesin ring PDS5A/B - control loading and unloading of cohesin
34
How does cohesin interact with DNA?
Dynamically
35
When is cohesin loaded/removed?
Loaded in telophase | Removed prophase-metaphase