chapter 3 Flashcards

1
Q

what is a chromosome

A

arrangement of DNA with genes located at specific regions (loci)

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2
Q

what do chromosomes determine

A

-determines the sex of humans and other animals

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3
Q

what do eukaryotes have

A

multiple chromosomes (non-sex determining) and sex chromosomes (sex determining)

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4
Q

ploidy

A

number of copies of each chromosome in any given cell

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5
Q

diploid (2n)

A

indicated cells that have 2 copies of each chromosome (eg.human or fly somatic cells)

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6
Q

haploid (n)

A

calls that have one copy of each chromosome (humans or fly germ cells)

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7
Q

what dominant life cycle do humans have

A

dominant diploid (haploid during fertilization of egg)

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8
Q

what organisms have dominant haploid life cycle?

A

most fungi and some unicellular organisms (mature organisms are haploid, short diploid cycle)

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9
Q

somatic cells (tissues ) are:

A

diploid and replicate and divide by mitosis

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10
Q

gametes (sperm and eggs) are:

A

haploid, produced by meiosis

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11
Q

what does mitosis produce:

A

diploid cells with genetically identical chromosomes

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12
Q

what does meiosis produce:

A

haploid cells that are not genetically identical to each other (due to chromosomal segregation and recombination)

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13
Q

cell division (too little vs too much)

A

a tightly regulated process

-Too little cell division prevents appropriate development and growth

-Too much cell division leads to cancer, morphological anomalies, and death

-has a number of stages called the cell cycle

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14
Q

Mitosis divides somatic cells in 3 phases:

A

M phase: cell division occurs

Interphase
* G1: high gene expression to prepare for DNA replication
* S phase: DNA replication occurs
* G2: preparation for cell division

Go: cell division is arrested
* Cell remains specialized but does not divide
* Eventual cell death (apoptosis)

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15
Q

mitosis

A

Although DNA replicates during interphase, chromosomes are not visible until prophase

Nuclear envelope breaks down during prometaphase and microtubules extend that attach to centromere of chromosomes via kinetochores

During metaphase, chromosomes align at the metaphase plate
* During anaphase, sister chromatids separate
* During telophase, new nuclear membranes form
* Cytokinesis is when daughter cells separate

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16
Q

Nuclear contents during mitosis

A

end of G1: 46 chromosomes and chromatids (2ng)

end of S: 46 chromosomes (2ng) and 92 chromatids or 4ng (DNA replication)

end of mitosis: 46 chromosomes and chromatids (2 ng)

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17
Q

cell cycle checkpoints

A

Metaphase checkpoint: pass if all chromosomes are attached to mitotic spindle

G1 checkpoint: pass if cell size is adequate, good nutrient availability, growth factors present

S-phase checkpoint: pass if DNA replication is complete and has been screened to remove base-pair mismatch or error

G2 checkpoint: pass if cell size is adequate and chromosome replication successfully completed

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18
Q

failing a checkpoint

A

leads to programmed cell death (apoptosis)

Mutations altering normal cell cycle control are linked to various cell growth abnormalities

Loss of cell cycle control is a major
cause of cancer

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19
Q

what does meiosis produce

how is it similar and different from mitosis

A

Produces gametes for the sake of sexual reproduction

similar: DNA replication occurs during interphase, Stages within M-phase (mitosis) similar to stages within meiosis

different: Produces haploid cells, Has two stages meiosis I and meiosis II, There is no DNA replication between these phases

20
Q

Meiosis I

A
  1. Homologous chromosomes pair
  2. Crossing over occurs (recombination)
  3. Duplicated homologous chromosomes separate into two daughter cells

prophase I, homologous chromosomes pair (synapsis) and recombine in a structure
called tetrads
* In metaphase I, pairs of homologous chromosomes align
* In anaphase I, chromosomes separate, sister chromatids remain attached
* In telophase I, the nuclear membrane forms; cleavage furrow appears
* Cytokinesis is when cells separate

21
Q

Meiosis II

A

Single major event: separation of sister chromatids into separate
daughter cells
* End result is 4 distinct daughter cells which are haploid

22
Q

recombination

A

Occurs during Prophase I in Meiosis I before homologs separate

23
Q

Synaptonemal Complex

A

Protein structure that forms between homologous chromosomes during meiosis I

  • Mediates recombination
24
Q

Nuclear Contents of a Human Cell during Meiosis

A

end of G1: 46 chromosomes and chromatics

end of S phase: 46 chromosomes and 92 chromatids

end of meiosis I: 23 chromosomes, 46 chromatids (sister chromatids still not seperated)

end of meiosis II: 23 chromosomes and chromatids

25
Meiosis and Mendel’s Laws
Alleles segregate during recombination AND when homologs separate The arrangement of homologs during metaphase I dictates the independent assortment of multiple genes
26
Meiosis in Humans is
Oogenesis & Spermatogenesis
27
what does oogenesis and spermatogenesis result in?
1 egg cell per division, four sperm cells per division Millions of sperm are produced daily; one egg is produced each menstrual cycle
28
oocytes in females
Primary oocytes are established in females during embryonic development (~20 weeks after conception) - About 7 million primary oocytes are present at this time * Number decreases to 1-2 million by birth * By puberty the number decreases to 60 000 – 80 000 * About 500 mature oocytes are produced during a woman’s life
29
discovery of x-linked inheritance
Nettie Stevens was the first to observe sex chromosomes * studied chromosomal differences in male and female beetles * She found diploid female cells contained 20 large chromosomes, but diploid cells from male beetles contained 19 large chromosomes and 1 small chromosome * This small chromosome came to be known as a Y chromosome
30
31
sex linked phenotype that morgan found
Morgan and colleagues discovered the white- eyed mutant * This mutation was found to be recessive to the red-eyed phenotype (wild-type) the white-eyed allele was found on sex chromosomes * More specifically, the white-eyed phenotype is X-linked, meaning the allele is located on the X chromosome
32
Morgan’s Reciprocal Cross
* All F1 males had white eyes F2 progeny were an equal mix of white-eyed males, white-eyed females, wild-type males, wild-type females These two crosses demonstrated that males are more prone to expressing the recessive phenotype because it is on the X chromosome and males only have one X chromosome
33
hemizygous
having one allele (male flies in morgans cross)
34
Drosophila: ratio system
X:A ratio system Ratio of X chromosomes to autosomes determines sex * Y chromosome does not determine sex Sisterless protein is expressed from the X chromosome Deadpan protein is expressed from autosomes * When two sisterless proteins dimerize (connect) at high concentration, female flies are produced * When deadpan proteins dimerize with sisterless proteins at high concentration, male flies are produced * Two X chromosomes = higher expression of sisterless = higher chance of sisterless proteins dimerizing * One X chromosome = lower expression of sisterless = higher chance of deadpan dimerizing with sisterless proteins
35
Birds, reptiles, butterflies & moths:
Z/W system * Females have ZW chromosomes (females hemizygous in these animals) * Males have ZZ chromosomes In animals where females have two different sex chromosomes * Called Z/W to avoid confusion with X/Y sex determination
36
Platypus:
5 pairs of sex chromosomes 5 XY = male 5 XX = female
37
What would be the resulting sex of a fly with two X chromosomes and a Y chromosome (genotype: XXY)?
female
38
What would be the resulting sex of a fly with one X chromosome and no Y chromosome (genotype: XO)?
male
39
Y chromosome in mammals contains
gene called sex determining region of Y (SRY) Males: * Usually: XY * Rarely: XXY, XYY, XYYY Females: * Usually: XX * Rarely: XO, XXX, XXXX
40
example of X-linked recessive condition
colour blindness Only expressed in women that are homozygous recessive It is common for men to inherit the condition directly from their heterozygous mothers (carriers)
41
Hypertrichosis
rare X-linked dominant disorder in humans * It leads to a large increase in the number of hair follicles on the body, and affected males and females have more body hair than normal
42
biggest clue to identify it as X- linked dominant
all daughters inheriting condition from father
43
dosage compensation
females have twice as many X chromosomes as males * This creates differences in the “dosage” (expression) of X-linked genes * Females could have twice as much protein expressed from their X- chromosomes * Mechanisms exist to compensate for these differences in sex chromosome number and it is called dosage compensation
44
x-inactivation in female placental mammals
X-inactivation occurs early in embryonic development * Any given cell inactivates either the maternally inherited X chromosome or the paternally inherited X chromosome on a random basis * This means all cells in a female’s body are mosaics of two cell types: one expresses the maternal X chromosome, the other expresses the paternal X chromosome
45
X-inactivation is the cause of some skin conditions in people
Mosaicism or "lines of blaschko" are due to different patches of skin that are descended from embryonic cells with different X-chromosomes being inactivated
46
Calico Coat, Produced by X Inactivation in Female Cats
In cats, the X chromosome carries a gene responsible for coat color * One allele specifies a black color; the other an orange color * X inactivation in heterozygous females leads to a pattern of orange and black patches that is unique to each individual