Unit 1 - Active Recall Flashcards

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1
Q

Explain what you know about meiosis?

A
  • meiosis yields 4 haploid cells
  • maintains the level of DNA in sexually reproducing organisms
  • yields haploid cells that are genetically different from one another
  • yields genetic combinations different from the parent(s)
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2
Q

Explain crossing over in Meiosis I and II.

A
  • physical exchange of genetic material among non-sister chromatids

PROCESS
1. Meiosis I
- metaphase I: homologous pairs line up on metaphase plate
- anaphase I: centromeres DON’T split, and homologous pairs move to the poles (different from mitosis)

  1. Meiosis II
    - metaphase I: single chr. line up on metaphase plate
    - anaphase I: centromeres DO split, and there is physical separation of sister chromatids (similar to mitosis)

Note:
- DOES shuffle the alleles of genes on the same chromosome (leading to new combos)

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3
Q

Explain independant assortment of chromosomes into gametes in Meiosis.

A
  • occurs between paternal and maternal chromosomes
  • pairs align independently of each other on the metaphase plate
  • yields different combos of chromosomes within haploid sets of gametes
  • # of possible combos = 2^n

Note:
- does NOT shuffle the alleles of genes on the same chromosome

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4
Q

Why is the shuffling of alleles important?

A

contributes to genetic diversity and new combinations of traits.

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5
Q

Explain the phases of the cell cycle in order: G0, G1, S, G2 and M.

A

G0
- Cells are not actively preparing to divide (have exited the cell cycle until recieve stimulus)
- No more DNA replication or cell division happens at this phase.
- Cells that never or rarely divide remain in Go permanently.

G1
- first stage of interphase is the G1 phase (first gap), the growing phase.
- cell grows and accumulates the building blocks of chromosomal DNA and the associated proteins
- increase in size and produce organelles.

S
- DNA replication occurs, and centrioles replicate (two centrosomes give rise to the mitotic spindle)
- At the center of cell, the centrosomes associate with a pair of centrioles (organize cell division)

G2
- cell replenishes its energy stores and synthesizes proteins necessary for chromosome manipulation
- cell prepares for division (having double the DNA and again increase in size)
- some cell organelles are duplicated, and the cytoskeleton is dismantled to provide resources for the mitotic phase

M
- Following the interphase, the cell enters the multistep mitotic phase, where cell nucleus divides
- cell components split into two identical daughter cells.

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6
Q

Name some similarities or differences between mitosis and meiosis?

A

(-) in mitosis prophase chromosomes have no associations, while in meiosis prophase I, homologous chromosomes pair up
(-) in mitosis metaphase chromosomes line up in a single line while in meiosis metaphase I, they line up in pairs
(-) in mitosis anaphase centromeres split while in meiosis anaphase I centromeres don’t split (it would cause chr. count to go down by half)
(+) in both mitosis and meiosis metaphase, metaphase II, anaphase and anaphase II, chromosomes are in a single line then centromeres split to restore 1:1 relationship between the DNA and chromosomes.

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7
Q

Types of genes?

A
  1. Protein-coding genes
  2. RNA-encoding genes
  3. Regulatory signal genes
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8
Q

Genetic information is encoded by _____________________, and that information is transmitted
to the next generation via ____________________

A

genes on chromosomes, haploid gametes

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9
Q

Describe the principle of segregation.

A
  • The principal of segregation refers to the process that affects allelic variation AT A SINGLE LOCUS (a single gene).
  • An individual organism possesses two alleles for any particular trait, and these two alleles segregate (separate) such that each is transferred to its own gamete (see your text for further definition). The transfer of alleles to gametes occurs with equal probability.
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10
Q

Describe the principle of independent assortment.

A

alleles at different loci (on different
chromosomes) segregate independently of each other.

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11
Q

What ratios do you need to remember for monohybrid crosses? (single locus - both heterozygous)

A

Ex: Aa x Aa
Genotype ratio: 1:2:1
Phenotypic ratio: 3:1

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12
Q

What ratios do you need to remember for monohybrid crosses? (single locus - heterozygous/homozygous)

A

Ex: Aa x aa
Genotype ratio: 1:1
Phenotypic ratio: 1:1

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13
Q

What ratios do you need to remember for dihybrid crosses? What about if there’s two loci (AaBb x AaBb or AaBb x aabb)

A

Genotype ratio: 1:1:1:1
Phenotypic ratio: 9:3:3:1

Case of AaBb x AaBb
Genotype: depends
Phenotype: 9:3:3:1

Case of AaBb x aabb
Genotype: depends
Phenotype: 1:1:1:1

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14
Q

What are the generic forms of a test cross between homozygous recessive x unknown genotype for 1, 2 and 3 loci?

A

1 locus: rr x Rr (or RR)
2 loci: rr yy x R_Y_
3 loci: rr yy pp x R_Y_P_

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15
Q

Explain generally locus-specific notation for human ABO blood group?

A

Phenotype: Type O, Type A, Type B, Type AB
Genotype: ii, I^A I^A or I^A I^I, I^B I^B or I^B I^I, I^A I^B

Notes:
- three main alleles at a single locus (other rare variants do exist)
- locus encodes glycosyltransferase enzyme
- i allele is recessive to IA and IB alleles (i encodes non-functional protein)
- i form does not modify the basic blood antigen structure
- IA and IB alleles produce different variants of basic blood antigen structure

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16
Q

Compare and contrast dominance and epistasis.

A

Dominance:
1. one allele “masks” affect of other allele at same locus
2. no interactions between alleles at different loci
3. each gene (locus) affects phenotype independently (9:3:3:1)

Epistasis:
1. allele at one locus “masks” affect alleles at a different locus
2. interactions between alleles at different loci
3. this can alter Mendelian ratios (ex: alters (9:3:3:1 to be 9:3:4)

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17
Q

Compare dominant and recessive epistatic alleles. Example: Aa x Bb is from Lecture 3 (2/3) - Epistasis

A

“A” is a dominant epistatic allele:
1. “A” allele “masks” affect alleles at the same locus (A>a)
2. “A” allele “masks” affect alleles at different locus (A epistatic to B and b)
3. this will alter Mendelian ratios (12:3:1)

“a” is a recessive epistatic allele:
1. “a” allele gets masked by “A” allele at the same locus (A>a)
2. “a” allele masks affect alleles at different locus (a epistatic to B and b)
3. this will alter Mendelian ratios (9:3:4)

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18
Q

Compare duplicate dominant and recessive epistatic alleles. For duplicate dominant the P generation is: AABB x aaBB, for the duplicate recessive the P generation is: aaBB x AAbb.

A

Both “A” and “B” alleles are dominant epistatic (duplicate):
- Allele A is dominant to a (same locus)
- Allele B is dominant to b (same locus)
- Allele A & B are epistatic (masks) to a and b (different locus)
- 15 : 1 ratio

Both “a” and “b” alleles are recessive epistatic (duplicate):
- Allele a is recessive to A (same locus)
- Allele b is recessive to B (same locus)
- Allele a is epistatic to (masks) B, and b is epistatic to (masks) A
- 9 : 7 ratio

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19
Q

To recap, what are all of the forms of ratios that will be produced from original 9:3:3:1 ratio based on epistasis?

A
  1. recessive epistasis (9:3:4)
  2. dominant epistasis (12:3:1)
  3. duplicate dominant epistasis (15:1)
  4. duplicate recessive epistasis (9:7)
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20
Q

Human males are called the “heteorgametic sex” because?

A

they produce two “kinds” of haploid gametes (having X or Y chrom.)

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21
Q

Explain the four steps in evolution of a heterogametic sex

A
  1. start as an autosomal pair
  2. gain sex- determining genetic system(s)
  3. crossing over (recombination) gets suppressed
  4. chromosomes diverge between males and females (Y degeneration)
22
Q

What are the sex phenotypes for men and women?

A
  • females produce large gametes by asymmetrical meiosis
  • males produce small (usually motile) gametes

Note:
- Genes involved in development of the 1° sex phenotype are “sprinkled” throughout the human genome (it takes more than just X and Y)
- The human sexual phenotype is an extremely complex “constellation” of traits (1°and 2°) that depends on setting the level of expression of many genes located throughout the entire genome.

23
Q

XX-XY system

A

Females: XX (homogametic sex)
Males: XY (heterogametic sex)
X egg + X sperm➔female
X egg + Y sperm➔male
ex: some insects, plants & reptiles; all mammals (incl. humans)

24
Q

XX-X0 system

A

Females: XX (homogametic sex)
Males: X0 (heterogametic sex)
X egg + X sperm➔female
X egg + 0 sperm➔male
ex: grasshoppers, other insects

25
Q

ZZ-ZW system

A

Females: ZW (heterogametic sex)
Males: ZZ (homogametic sex)
Z egg + Z sperm➔male
W egg + Z sperm➔female
Ex: birds; moths; some amphibians and fishes

26
Q

Haplodiploidy

A

No sex chromosomes
System = number of chromosomes Males: haploid (n)
Females: diploids (2n)
ex: bees; wasps; ants

27
Q

What are the 3 roles sex determination has in humans?

A
  1. Sexual development depends on genes on sex chromosomes AND autosomes
  2. Most 2° sexual characteristics depend on autosomal genes
  3. Sexual phenotype does not depend on the mere presence of genes, but on correct control of gene expression
28
Q

What is the role of sex chromosomes? Recall: XX: female (homogametic sex) XY: male (heterogametic sex).

A
  1. gene on Y (called SRY) determines “maleness”
  2. X chromosome carries genes essential for both sexes
    - females (usually) need two copies of X for fertility
    - at least one copy of X required for viability (males & females)
  3. both X and Y carry genes essential for fertility:
    - DAZ (Y-encoded) required for sperm development
    - Zfx and DIAPH2 (X-encoded) required for ovarian maintenance
29
Q

SRY or Sex Determining Region Y, was “discovered” in 1990. What else do you know about it?

A
  • encodes a protein that binds DNA (transcription factor) - function is to bend DNA
  • alters expression of other genes that determine testes development
  • “fundamental” (but not only) determinate of male phenotype
  • found in all mammals examined to date
  • genetic engineering: XX mice + SRY➔male
30
Q

How do sex chromosomes pair when meiosis happens in the heterogametic sex?

A
31
Q

Nondisjunction

A
  • non-disjunction is like a mistake during the cell division process where chromosomes end up unevenly distributed between cells, potentially causing genetic abnormalities in the resulting cells or offspring.
  • Non-disjunction can occur at either Meiosis I or Meiosis II
  • non-disjunction in meiosis II will produce 1⁄2 the gametes with the normal haploid (n) chromosome content.

Ex:
- karyotype of a Turner syndrome individual (X0)
- A child with Klinefelter syndrome (XXY) is born as a result of a nondisjunction during spermatogenesis. Was the nondisjunction in Meiosis I or Meiosis II?

32
Q

What are the mechanisms for dosage compensation (see terms)?

A
  1. double the activity of X-linked genes in males (e.g., Drosophila)
  2. half the activity of X-linked genes in female (e.g., C. elegans)
  3. inactivate genes on one X chromosome in females (e.g., placental mammals)
33
Q

“genetic superiority of women”: what is the role of the X chromosome(s)? Describe ealth related examples and mechanisms.

A

health-related examples:
- less vulnerable to some diseases
- faster healing
- more intense immune responses
- less intense Alzheimer’s symptoms

mechanisms:
1. genetic mosacism
2. avoiding dosage compensation for certain genes
3. degeneration of Y-chrom genes

34
Q

Explain Genetic Mosacism? ACE2 ex?

A
  • ACE2 is a surface protein on many human cells types
  • ACE2: angiotensin-converting enzyme 2, regulates many cellular functions, SARS-CoV2 binds ACE2 (receptor)
  • spike protein is key to unlocking human cells (nose, mouth, lung epithelium, & heart)
  • ACE2 is encoded on the X chromosome (2 copies)
  • Females have mosaic ACE2 expression on their cells.
  • Allelic variation: the virus has more than one “lock to pick”. ~50% cells have different version.
  • viral activity decreases critical ACE2 activity. Less affect on ACE2 in women could explain lower mortality rates.
35
Q

Explain the concept of avoid dosage compensation: KDM6A “double dose”?

A
  • KDM6A known to be involved in learning and cognition, protective against toxic Alzheimer’s proteins in the brain
  • Women have less severe Alzheimer’s than men, living longer than men
  • KDM6A is encoded on the X chromosome
  • KDM6A is one of certain proteins that remain active on BOTH X-chromosomes in women
  • Women have a “double dose” of KDM6A compared to males. women have more KDM6A expressed in their brains; women might be less affected by Alzheimer’s b/c the protein protects the susceptible neurons from damage.
36
Q

Explain the concept Y-chrom genes might be degenerating: SRY?

A
  • once recombination is suppressed Y starts to degenerate
  • gene deletion → Y gets smaller → remaining genes accumulate deleterious mutations
  • Y degeneration slows down, but not before some Y-linked genes are affected by mutation
  • Parkinson’s disease is twice as common in men than women
  • SRY is active in many parts of body in adults, including brain
  • SRY expressed in abnormally high levels in male mice & rats with Parkinson’s symptoms. experimental intervention to suppress SRY activity in mice reduced the Parkinson’ symptoms.
  • Males express SRY in brain (females do not): degenerate mutations/expression of SRY could contribute to severity of Parkinson’s
37
Q

What is Lyonization?

A
  • occurs about 16 days after fertilization (500- to 1000- cell stage)
  • inactivation is random (diff. cells, diff. X chrom.)
  • females transcriptionally equivalent to single male X chromosome
  • yields functional hemizygosity (at the cellular level after 16 days)
  • 50:50 allelic expression: females are genetic mosaics
  • X inactivation due to Xist gene
38
Q

Sex-linked genes/traits have different patterns of inheritance as compared to autosomal genes! Why?

A
  1. autosomal genes segregate into gametes independently of X and Y
  2. traits encoded by genes on X and Y will be associated with the sex phenotype
  3. traits encoded by genes on X and Y have UNUSUAL patterns of inheritance (females can be heterozygous, but males cannot)
39
Q

Autosomal loci

A
  • F2 always 3:1 (dominance)
  • reciprocal crosses same
  • males = females = 3:1
40
Q

X-linked loci

A
  • F2 not always 3:1
  • reciprocal crosses differ
  • phenotype ratio: males ≠ females

why?
- Females inherit X-linked alleles from both
parents.
- Males inherit X-linked alleles only from
mother.

41
Q

Y-linked loci

A
  • NEVER expressed in female
  • direct ➔ father son inheritance

why?
- Females NEVER inherit Y-linked alleles
- Males inherit Y-linked alleles only from
father

42
Q

Genes on different chromosomes assort into ________ gametes __________ of each other.

A

haploid, independently

43
Q

Not all genes in a linkage group are the same, why might this be? Give three reasons.

A
  • strongly linked genes (physically close loci)
  • weakly linked genes (physically distant loci)
  • genes very far apart assort independently
44
Q

If two genes are “linked” would you expect…
a) 9:3:3:1 ratio from the cross AaBb × AaBb?
b) 1:1:1:1 ratio from a test cross (AaBb × aabb)?

A

No! Mendelian ratios assume the principle of independent assortment.

45
Q

If crossing over occurs in a meiocyte, what would we expect to happen in the four haploid cells?

A
  • we would expect the four haploid cells produced, by a single meiosis event in the meiocyte, are going to be split between half non-recombinant and half recombinant allelic configurations
46
Q

Remember the “or” rule.

A

The unit probability of recombination may be small,
but you add them up and when you get far enough apart, sum of all those small probabilities of crossing over = 1.0.

47
Q

Describe the 3 notions of linkage.

A
  1. Complete linkage: only parental gamete types are produced. (no recombinant gametes)
    - crossing over never occurs.
    - genes must be very very close.
    - R type gametes = 0%
  2. Independence: parental and recombinant gametes are produced with equal frequencies (50:50)
    - crossing over occurs in every meiosis (in every meiocyte)
    - genes must be vary far apart.
    - R type gametes = 50%
  3. Incomplete linkage: parental gametes are produced with greater frequency than recombinant gametes. (a.k.a. partial linkage)
    - crossing over occurs in some meioses.
    - frequency of crossing over depends on distance
    - 0% < R-Type < 50%
48
Q

Recall two main ideas in test crosses for linkage.

A
  1. Testcross cannot distinguish between (i) inter-chromosomal recombination and (ii) recombination among genes very far apart on a chromosome. (both yield NR = R = 50%)
  2. For linked genes, the more frequent gamete type will be the NR type (parental).
49
Q

Describe and differentiate between polygenic, threshold and meristic traits?

A
  1. Threshold trait: phenotype is binary (1,0); but susceptibility varies continuously
    - ex: disease susceptibility (clinical)
  2. Meristic trait: countable phenotype varies continuously (“quasi” quantitative trait)
    - ex: abdominal bristle number in fruit flies
  3. Continuous traits: have the potential to assume any value within a given range.
    - ex: height, weight
50
Q

Heritability equation

A

Vp = VG + VE+ VGXE

Vp=phenotypic variance
VG= genetic variance
VE= environmental variance
VGXE=genetic-environmental interaction variance

51
Q

Limits and misconceptions regarding heritability (there are 5)…

A
  1. Heritability does not tell you how much genes control a trait.
  2. Individuals do not have heritability (It is a group property).
  3. A trait’s heritability is not universal.
  4. Even if heritability is high, environment can affect the trait
  5. Heritability does not provide information on the nature of differences between populations for a trait.