4 - Mitosis/Meiosis/Recombination/Mendel's Laws Flashcards

1
Q

Define karyotype

A

Morphological characteristics of a cell’s chromosomes.

22 homologous pairs (46 total chrom) of autosomal chromosomes plus one pair of “sex determination” chromosomes.

23 homologous pairs = diploid (2N=46).

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2
Q

Define haploid

A

N=23, the number of chrom from each parent.

Members of a pair are homologous to each other.

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3
Q

Define genotype

A

Person’s biochemical genetic makeup.

Mediated by differences between allele within a homologous pair

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4
Q

Define phenotype

A

Biochemical, anatomic, physiological or behavioral TRAIT.

Mediated by environment and genotype.

Expression of genes into the protein they encode confers phenotype.

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5
Q

What is an allele?

A

The genome has two homologous copies of each gene, one from each member of a homologous chromosome pair.

Each of these two copies is termed an allele.

Can be dom or recessive

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6
Q

What are examples of homozygous recessive diseases?

A

Cystic fibrosis, albinism, PKU, and tay-sachs.

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7
Q

What occurs after S phases with DNA?

A

DNA content is 4N rather than 2N.

Mitosis occurs: goal is to restore 2N DNA precisely. This is activated in late G2.

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8
Q

What activates M-phase (mitosis)?

A

cdc25 phosphatase dephosphorylates CDK1 -> nucleus.

Cyclin B/CDK1 phosphorylates nuclear targets such as:

  • centrosome causes mitotic spindle activation
  • lamins which cause nuc envelope to breakdown
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9
Q

What are the basic phases of Mitosis?

A

P: CyclinB/CDK1 > condensins > chromatic condensation

M: chromatids allign at equator

A: APC degrades cohesion then chromatids move

T: daughter nuclei form, mediated by lamin B

C: 2 daughter cells formed

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10
Q

What occurs in early prophase?

A

CyclinB/CDK1 phosphorylate condensin and centrosomes move to spindle poles

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11
Q

What occurs in late prophase? What are the types of mts involved?

A

CyclinB/CDK1 phosphorylates things causing the nuc envelope to breakdown.

3 types of mts:

  1. astral cause state shaped centrosome
  2. kinetochore: attach to midpoint of chrom
  3. polar: control movement of chromosomes in M-phase
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12
Q

What occurs during metaphase?

A

Sister chromatids are at equator attached to kinetochore mts.

(Note: homologous chromosomes do NOT pair up in mitosis, this occurs in meiosis)

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13
Q

What occurs in chemotherapy with metaphase?

A

Vinblastine inhibits mt assembly by binding tubulin.

Taxol inhibits mt dis-assembly

Both block mitosis.

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14
Q

What initiates anaphase?

What occurs in anaphase?

A

Initiated by anaphase-promoting complex (APC).

In kinetochore, APC degrades securin to release separase, which degrades cohesin. Result is release of sister chromatids.

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15
Q

What mechanism do sister chromatids use to move to opposite poles?

A

Push-pull mechanism.

Push: elongation of polar mts
Pull: shortening of kinetochore mts

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16
Q

What occurs during telophase? What is this called?

A

Kinetochore tubulrs are extinct and polar tubules are still elongating.

Nuclear envelopes reform via lamin B.

Called karyokinesis (nuclear division).

17
Q

What occurs during cytokinesis?

A

Cleavage furrow, cells separate by pinching off.

Mediated by actin and myosin.

18
Q

How does meiosis differ from mitosis

A

In meiosis there are two divisions resulting in 4 cells. Daughter cell genotypes are variable. Chromosome number reduced to haploid.

There is no S phase in meiosis 2.

There’s pairing of homologous chrom at prophase 1.

Centromeres divide only at anaphase 2.

19
Q

When does crossing over occur in meiosis? When do homologous chromosomes separate in meiosis? When do sister chromatids separate?

A

Crossing over occurs in prophase 1, therefore there are only 23, not 46 positions occupied on the equitorial plate.

Homologous chrom separate in anaphase 1.

Sister chromatids separate in anaphase II.

20
Q

Why is meiosis 1 called a reduction division?

A

Chromosome number in the two daughter cells is reduced by half.

This is because the homologous chromosomes (each having 2 sister chromatids) split during anaphase 1.

21
Q

Why is meiosis called a mitotic division (without S phase)?

A

The centrosomes (sister chromatids) finally divide at anaphase 11 and are portioned into the daughter cells.

Result being that there are four haploid cells.

22
Q

Describe the genotypes of the daughter cells from mitosis?

A

They remain identical.

23
Q

Describe the genotypes of gametes from meiosis?

A

It exploits heterozygosity, resulting in gametes with different genotypes.

24
Q

What does Mendel’s first law: the law of segregation state?

A

From meiosis:

Each gamete gets one allele or the other (never both) from the parental cell.

Each allele is segregated into a separate gamete.

25
Q

What does Mendel’s second law: the “independent inheritance” law state? Where does this occur?

A

Alleles that encode different traits assort independently of each other.

Exp. inheritance of stature and eye color can’t be linked, because each trait is inherited independently

Independent assortment occurs at meiosis 1 when homologous chrom go to separate cells.

26
Q

Due to alleles for traits assorting independently, what is the phenotypic ratio that always occurs? What about for the F2 progeny?

A

3:1

F2 progeny - 9:3:3:1 ratio

27
Q

What are two important points during meiosis 1?

A

Crossing over - occurs during prophase 1

Independent assortment: occurs at anaphase 1

28
Q

Describe crossing over in prophase one of meiosis?

A

Genetic recombination that occurs via non-sister chromatids of paired homologous chromosomes.

Mediated by dsDNA breaks between regions of homology.

29
Q

What is the point where crossing over occurs called?

A

The chiasmata, which is thought to be random.

30
Q

How does crossing over indicate gene organization on chromosomes?

A

As distance between two genes on a chromosome increases, the probability increases that cross-over will occur.

Genes have a high crossover freq between that are said to be loosely linked. Low crossover freq are tightly linked (closer together).

31
Q

What does 1% frequency of crossover equal in terms of distance from one gene to another? What does this mean in humans?

A

1% freq of crossover = 1 centiMorgan (cM)

In humans, 1 cM = 1 million bp DNA.