Lecture 3- Meiosis Flashcards

1
Q

Describe meiosis I: crossing over and segregation

A
  1. Centrioles and chromosomes are replicated
  2. Maternal and paternal homologs pair up
  3. Genetic diversity is generated by recombination between homologous chromosomes
  4. One complete chromosome (2 chromatids) get pulled to separate poles
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2
Q

When does crossing over take place and how does this leave the cells?

A

Crossing over takes place when homologues pair up. These cells will be haploid with each homologue represented by two sister chromatids.

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3
Q

What is the difference between meiosis II and mitosis?

A

Cells in meiosis II are haploid instead of diploid.

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4
Q

What facilitates homologues pairing during meiotic prophase I?

A

Pairing is facilitated by the synptonemal complex and DNA base pairing between homologues.

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5
Q

What is the purpose of the homologues pairing up during meiotic prophase I?

A
  • Aligns the chromosomes up ready for anaphase

* Allows for genetic recombination between paternal and maternal DNA on the same chromosome

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6
Q

How is the synaptonemal complex formed?

A
  1. Paired homologs are brought to 400nm apart
  2. A recombination complex helps bind the homologs together
  3. The axial core are cross linked by transverse filaments cells to form the synaptonemal complex
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7
Q

What is the function of the synaptomeal complex?

A
  1. Aligns the two chromosomes

2. Helps in homologous recombination

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8
Q

What is the fundamental difference between mitosis and meiosis?

A

Mitosis: sister chromatids separate

Meiosis: homologs separate

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9
Q

What allows the differences between mitosis and meiosis?

A
  1. Both kinetochores (on one chromosomes) attatch to the same spindle pole in meiosis. This is done by a protein complex that is removed after meiosis I
  2. Crossing over = physical linkage between homologs in meiosis
  3. Cohesion is only removed from the arms in meiosis
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10
Q

What is ensured by meiosis regulation?

A
  1. Ensures at least 1 crossover forms

2. Crossover interference- once one forms it inhibits others close by, thus the number per arm are limited

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11
Q

What are the 2 categories of chromosome abnormalities?

A
  1. Abnormalities in chromosome number

2. Chromosome structural rearrangement

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12
Q

What is aneuploidy?

A

Aneuploidy is the presence of an abnormal number of chromosomes in a cell

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13
Q

What are the 2 types of aneuploidy?

A
  1. Monosomy- 1 copy of a chromosome

2. Trisomy- 3 copies of chromosomes

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14
Q

What is polyploidy?

A

A whole set of extra chromosomes

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15
Q

What causes aneuploidy?

A

Caused by chromosome non-disjunction.

Either homologous chromosomes or sister chromatids fail to separate in meiosis I/II or mitosis. Resulting in an abnormal number of chromosomes

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16
Q

What are the consequences of numerical chromosomal abnormalities?

A
  1. Polyploidy (Triploid)- embryonic lethal
  2. Aneuploidy (Nullsomy: missing a pair of chromosomes)- pre-implantation lethal

Aneuploidy (Monosomy: missing one chromosome)- embryonic lethal

Aneuploidy (Trisomy: one extra chromosome)- usually lethal

Aneuploidy (additional sex chromosomes)- minor problems

Aneuploidy (lacking sex chromosomes)- Turner’s syndrome

17
Q

List 3 symptoms of autosomal trisomy- Trisomy 22

A
  1. Underdeveloped midface
  2. Malformed ears
  3. Congenital heart disease
  4. Microcephaly
18
Q

List 3 symptoms of autosomal trisomy- Trisomy 18 (Edwards syndrome)

A
  1. Severe intellectual disability
  2. Low birth weight
  3. Small/abnormal head
  4. Congenital heart disease
  5. Small jaw and mouth
  6. Clenched fists with overlapping fingers
19
Q

List 3 symptoms of monosomy- Turner’s syndrome

A
  1. Poor growth
  2. Short
  3. Delayed pubertal development
  4. Congenital heart defects
  5. Skeletal abnormalities
20
Q

Why do we see lethality?

A
  1. Haploinsuficiency- pseudoautosomal genes are expressed from both alleles and dose matters
  2. Imprinted genes on X- i.e monoallelic expression which is lost