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reproduction
Outline
1 The Cell Cycle
2 Mitosis and Cytokinesis
3 The Cell Cycle and Cancer
4 Meiosis
2
Cell Cycle
All cells are derived from pre- existing cells
3
Cell Cycle
The cell cycle is an orderly set of stages from the first division to the time the
resulting daughter cells divide
Just prior to the next division:
◦ The cell grows larger
◦ The number of organelles doubles
◦ The DNA is replicated
The three major stages of the cell cycle:
◦ Interphase (includes several stages)
◦ Mitotic Stage (includes mitosis and cytokinesis)
◦ Cytokinesis
4
Keeping Cells Identical
5
DNA Replication
Original DNA
DNA must be copied strand
or replicated before
cell division Two new,
identical DNA
Each new cell strands
will then have an
identical copy of
the DNA
6
Types of Cell Reproduction
7
Prokaryotic Chromosome
8
Cell Division in Prokaryotes
Parent
cell
Prokaryotes such as bacteria
divide into 2 identical cells by
the process of binary fission Chromosome
doubles
Single chromosome makes a
copy of itself
Cell wall forms between the Cell splits
chromosomes dividing the cell
17
The Cell Cycle
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Interphase
S
G1 checkpoint (growth and DNA
Cell cycle main checkpoint. replication)
G1
If DNA is damaged, apoptosis G2 checkpoint
will occur. Otherwise, the cell G2 Mitosis checkpoint.
is committed to divide when G1 (growth and final Mitosis will occur
growth signals are present (growth) preparations for if DNA has
G0 M division) G2
and nutrients are available. replicated properly.
Apoptosis will
occur if the DNA is
damaged and
cannot be repaired.
M checkpoint
Spindle assembly
checkpoint. Mitosis
will not continue if
chromosomes are
not properly aligned.
10
The Cell Cycle
Interphase
◦ Most of the cell cycle is spent in interphase
◦ Cell performs its usual functions
◦ Time spent in interphase varies by cell type
◦ Nerve and muscle cells do not complete the cell
cycle (remain in the G0 stage)
11
The Cell Cycle
Interphase consists of: G1, S, and G2 phases
◦ G1 Phase:
◦ Recovery from previous division
◦ Cell doubles its organelles
◦ Cell grows in size
◦ Cell accumulates raw materials for DNA synthesis
◦ S Phase:
◦ DNA replication
◦ Proteins associated with DNA are synthesized
◦ Chromosomes enter with 1 chromatid each
◦ Chromosomes leave with 2 identical chromatids (sister chromatids) each
◦ G2 Phase:
◦ Between DNA replication and onset of mitosis
◦ Cell synthesizes proteins necessary for division
12
What’s Happening in Interphase?
Animal Cell
What’s occurring
13
Eukaryotic Chromosomes
14
Eukaryotic Chromosomes
DNA is in very long threads
◦Chromosomes
◦Stretched out and intertwined between divisions
◦DNA is associated with histones (proteins)
◦DNA and histone proteins are collectively called chromatin
Before mitosis begins:
◦ Chromatin condenses (coils) into distinctly visible chromosomes
◦ Each species has a characteristic chromosome number
15
Diploid Chromosome Numbers of
Some Eukaryotes
16
Eukaryotic Chromosomes
At the end of S phase:
◦ Each chromosome internally duplicated
◦ Consists of two identical DNA chains
◦ Sister chromatids (two strands of genetically identical chromosomes)
◦ Attached together at a single point (called centromere)
During mitosis:
◦ Centromeres holding sister chromatids together separate
◦ Sister chromatids separate
◦ Each becomes a daughter chromosome
◦ Sisters of each type are distributed to opposite daughter nuclei
17
Chromosomes in Dividing Cells
Duplicated
chromosomes are
called chromatids &
are held together by
the centromere
sister chromatids
centromere
kinetochore
one chromatid
a. 9,850 b.
© Andrew Syred/Photo Researchers, Inc.
19
Karyotype
20
Henrietta Lack’s Karyotype
The Cell Cycle
The cell cycle is controlled by internal and
external signals
A signal is a molecule that either stimulates or
inhibits a metabolic event.
◦Internal signals
◦ Family of proteins called cyclins (CDK) that increase and decrease
as the cell cycle continues
◦ Without cyclins, the cell cycle stops at G1, M or G2 (checkpoints)
◦ Allows time for any damage to be repaired
22
The Cell Cycle
Apoptosis is programmed cell death
It involves a sequence of cellular events:
◦ fragmenting of the nucleus,
◦ blistering of the plasma membrane
◦ engulfing of cell fragments.
Apoptosis is caused by enzymes called caspases.
Mitosis and apoptosis are opposing forces
◦ Mitosis increases cell number
◦ Apoptosis decreases cell number
23
Mitosis
Division of the nucleus
Also called karyokinesis
Only occurs in eukaryotes
Has four stages
Doesn’t occur in some cells
such as brain cells, nerve
cells, and muscle cells.
24
Four Mitotic Stages
Prophase
Metaphase
Anaphase
Telophase
25
Early Prophase
Chromatin in nucleus condenses to form visible chromosomes
Mitotic spindle forms from fibers in cytoskeleton or centrioles
(animal)
Nucleolus Cytoplasm
Nuclear Membrane
Chromosomes
26
Late Prophase
Nuclear membrane & nucleolus are broken down
Chromosomes continue condensing & are clearly visible
Spindle fibers called kinetochores attach to the
centromere of each chromosome
Spindle finishes forming between the poles of the cell
27
Spindle Fiber attached to
Chromosome
Kinetochore Fiber
Chromosome
28
Spindle Fibers
The mitotic spindle form from the microtubules in plants and
centrioles in animal cells
Polar fibers extend from one pole of the cell to the opposite pole
Kinetochore fibers extend from the pole to the centromere of the
chromosome to which they attach
Asters are short fibers radiating from centrioles
29
Sketch The Spindle
30
Metaphase
Chromosomes, attached to the kinetochore fibers, move to the center of
the cell
Chromosomes are now lined up at the equator
Equator of Cell
Pole of
the Cell
31
Metaphase
Asters at
the poles
Spindle Chromosomes
Fibers lined at the
Equator
32
Review of Metaphase
What’s
occurring
33
Anaphase
Occurs rapidly
Sister chromatids are pulled
apart to opposite poles of
the cell by kinetochore
fibers
34
Anaphase
Sister
Chromatids
being
separated
35
Anaphase Review
What the
cell looks
like
What’s
occurring
36
Telophase
37
Comparison of Anaphase & Telophase
38
Cytokinesis
39
Cytokinesis in Animal Cells
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
X 4,000
Cleavage furrow
Contractile ring
X 4,000
40
(top): © Thomas Deerinck/Visuals Unlimited; (bottom): © SPL/Getty RF
Cleavage furrow in Cell plate in
animal cell animal cell
Daughter Cells of Mitosis
Have the same number of chromosomes as each
other and as the parent cell from which they were
formed
Identical to each other, but smaller than parent cell
Must grow in size to become mature cells (G1 of
Interphase)
42
The diploid (2n) number includes two sets of chromosomes of
each type
◦ Humans have 23 different types of chromosomes
◦ Each type is represented twice in each body cell (diploid)
◦ Only sperm and eggs have one of each type
·termed haploid (n)
◦ The haploid (n) number for humans is 23
◦ Two representatives of each chromosome type
◦ Makes a total of 2n = 46 in each nucleus
◦ One set of 23 from individual’s father (paternal)
◦ Other set of 23 from individual’s mother (maternal)
43
Comparison of Phases of Mitosis in Animal and Plant Cells
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centrosome
has centrioles
Animal Cell
at Interphase 20 µm
aster
nuclear
envelope
fragments
Early Prophase
Centrosomes have duplicated.
MITOSIS chromatin
condenses
nucleolus
Chromatin is condensing into
disappears
chromosomes, and the nuclear
Early Prophase envelope is fragmenting.
centrosome
lacks centrioles
Plant Cell
at Interphase
25 µm
centrosome
has centrioles
Animal Cell
at Interphase 20 µm duplicated 20 µm
aster
chromosome
nuclear
envelope
Prophase
centromere
fragments
Nucleolus has disappeared, and
MITOSIS duplicated chromosomes are
chromatin
condenses
nucleolus
visible. Centrosomes begin moving
disappears
spindle
fibers forming apart, and spindle is in process
Early Prophase
Centrosomes have duplicated.
Prophase of forming.
Chromatin is condensing into
chromosomes, and the nuclear
envelope is fragmenting.
centrosome
lacks centrioles
Plant Cell
at Interphase
25 µm 6.2 µm
cell wall chromosomes
Animal cell(Early prophase, Prophase): © Ed Reschke; Plant cell(Early prophase): © Ed Reschke; Plant cell(Prophase): © R. Cal entine/Visuals Unlimited
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
centrosome
has centrioles
Animal Cell
at Interphase 20 µm duplicated 20 µm spindle 9 µm
aster
chromosome pole
nuclear
envelope
kinetochore Prometaphase
centromere
fragments
The kinetochore of each
MITOSIS
chromatid is attached to a
chromatin
condenses
nucleolus kinetochore spindle fiber. Polar
disappears kinetochore
spindle spindle fiber
fibers forming spindle fibers stretch from each
polar spindle fiber
Early Prophase
Centrosomes have duplicated.
Prophase
Nucleolus has disappeared, and
Prometaphase spindle pole and overlap.
Chromatin is condensing into duplicated chromosomes are visible.
chromosomes, and the nuclear Centrosomes begin moving apart,
envelope is fragmenting. and spindle is in process of forming.
centrosome
lacks centrioles
Plant Cell
at Interphase 25 µm 6.2 µm 20 µm
cell wall chromosomes spindle pole lacks
centrioles and aster
Animal cell(Early prophase, Prophase, Metaphase): © Ed Reschke; Animal cell(Prometaphase): © Michael Abbey/Photo Researchers, Inc.;
Plant cell(Early prophase, Prometaphse): © Ed Reschke; Plant cell(Prophase): © R. Calentine/Visuals Unlimited
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
centrosome
has centrioles
Metaphase
Animal Cell
at Interphase aster
20 µm duplicated 20 µm spindle 9 µm chromosomes at 20 µm Centromeres of duplicated
chromosome pole metaphase plate
nuclear
envelope centromere
kinetochore
chromosomes are aligned at the
fragments
metaphase plate (center of fully
MITOSIS
centrosome
lacks centrioles
Plant Cell
at Interphase
25 µm 6.2 µm spindle pole lacks 20 µm 6.2 µm
cell wall chromosomes spindle fibers
centrioles and aster
Animal cell(Early prophase, Prophase, Metaphase): © Ed Reschke; Animal cell(Prometaphase): © Michael Abbey/Photo Researchers, Inc.;
Plant cell(Early prophase, Prometaphse): © Ed Reschke; Plant cell(Prophase, Metaphase): © R. Calentine/Visuals Unlimited
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
centrosome
has centrioles
Animal Cell
20 µm 20 µm 9 µm 20 µm 20 µm
Anaphase
at Interphase aster duplicated spindle chromosomes at daughter chromosome
chromosome pole metaphase plate
nuclear kinetochore
Sister chromatids part and become
envelope
centromere
fragments
daughter chromosomes that move
toward the spindle poles. In this
MITOSIS
chromatin
condenses way, each pole receives the same
nucleolus
disappears kinetochore
spindle
fibers forming
spindle fiber kinetochore number and kinds of chromosomes
spindle fiber
polar spindle fiber
Early Prophase Prophase Prometaphase Metaphase Anaphase as the parent cell.
Centrosomes have duplicated. Nucleolus has disappeared, and The kinetochore of each chromatid is Centromeres of duplicated chromosomes
Chromatin is condensing into duplicated chromosomes are visible. attached to a kinetochore spindle fiber. are aligned at the metaphase plate (center
chromosomes, and the nuclear Centrosomes begin moving apart, Polar spindle fibers stretch from each of fully formed spindle). Kinetochore spindle
envelope is fragmenting. and spindle is in process of forming. spindle pole and overlap. fibers attached to the sister chromatids
come from opposite spindle poles.
centrosome
lacks centrioles
Plant Cell
at Interphase
25 µm 6.2 µm spindle pole lacks 20 µm 6.2 µm 6.2 µm
cell wall chromosomes spindle fibers
centrioles and aster
Animal cell(Early prophase, Prophase, Metaphase, Anaphase): © Ed Reschke; Animal cell(Prometaphase): © Michael Abbey/Photo Researchers, Inc.;
Plant cell(Early prophase, Prometaphse): © Ed Reschke; Plant cell(Prophase, Metaphase, Anaphase): © R. Calentine/Visuals Unlimited
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
centrosome
has centrioles
Animal Cell
20 µm duplicated 20 µm spindle 9 µm chromosomes at 20 µm 20 µm 16 µm
at Interphase aster daughter chromosome cleavage furrow
chromosome pole metaphase plate
nuclear kinetochore Telophase
envelope centromere
fragments nucleolus
Daughter cells are forming
MITOSIS
Plant Cell
at Interphase 25 µm 6.2 µm 20 µm 6.2 µm 6.2 µm 6.6 µm
cell wall chromosomes spindle pole lacks spindle fibers cell plate
centrioles and aster
Animal cell(Early prophase, Prophase, Metaphase, Anaphase, Telophase): © Ed Reschke; Animal cell(Prometaphase): © Michael Abbey/Photo Researchers, Inc.; Plant cell(Early prophase, Prometaphse):
© Ed Reschke; Plant cell(Prophase, Metaphase, Anaphase): © R. Calentine/Visuals Unlimited; Plant cell(Telophase): © Jack M. Bostrack/Visuals Unlimited;
Comparison of Phases of Mitosis in Animal and
Plant Cells
Functions of mitosis:
◦ Permits growth and repair.
◦ In flowering plants, meristematic tissue retains the
ability to divide throughout the life of the plant
◦ In mammals, mitosis is necessary when:
◦ A fertilized egg becomes an embryo
◦ An embryo becomes a fetus
◦ A cut heals or a broken bone mends
50
The Cell Cycle and Cancer
Abnormal growth of cells is called a tumor
◦ Benign tumors are not cancerous
◦ Encapsulated
◦ Do not invade neighboring tissue or spread
◦ Malignant tumors are cancerous
◦ Not encapsulated
◦ Readily invade neighboring tissues
◦ May also detach and lodge in distant places (metastasis)
◦ Results from mutation of genes regulating the cell cycle
Development of cancer
◦ Tends to be gradual
◦ May take years before a cell is obviously cancerous
51
The Cell Cycle and Cancer
Characteristics of Cancer Cells
◦ Lack differentiation
◦ Are non-specialized
◦ Are immortal (can enter cell cycle repeatedly)
◦ Have abnormal nuclei
◦ May be enlarged
◦ May have abnormal number of chromosomes
◦ Often have extra copies of genes
◦ Do not undergo apoptosis
◦ Normally, cells with damaged DNA undergo apoptosis
◦ The immune system can also recognize abnormal cells and trigger apoptosis
◦ Cancer cells are abnormal but fail to undergo apoptosis
52
Uncontrolled Mitosis
If mitosis is not
controlled, unlimited
cell division occurs
causing cancerous
tumors
Oncogenes are special
proteins that increase
the chance that a normal
cell develops into a
tumor cell
53
The Cell Cycle and Cancer
Origin of Cancer
◦ Chromosomes normally have special material at each end
called telomeres
◦ These get shorter each cell division
◦ When they get very short, the cell will no longer divide
◦ Telomerase is an enzyme that maintains the length of
telomeres
◦ Mutations in telomerase gene:
◦ Cause telomeres to continue to lengthen, which
◦ Allows cancer cells to continually divide
54
Meiosis and sexual
reproduction
Halving the Chromosome Number
Meiosis
◦ Special type of cell division
◦ Used only for sexual reproduction
◦ Halves the chromosome number prior to fertilization
56
Halving the Chromosome Number
In diploid body cells, chromosomes occur in pairs
Humans have 23 different types of chromosomes
Diploid (2n) cells have two chromosomes of each type
Chromosomes of the same type are said to be homologous chromosomes
(homologues)
◦ They have the same length
◦ Their centromeres are positioned in the same place
◦ One came from the father (the paternal homolog) the other from the mother
(the maternal homolog)
◦ When stained, they show similar banding patterns
57
Homologous Chromosomes
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a. Sister chromatids
nonsister
duplication chromatids duplication
kinetochore
centromere
59
Halving the Chromosome Number
Homologous chromosomes have genes controlling the same trait at the same
position
◦ Each gene occurs in duplicate
◦ A maternal copy from the mother
◦ A paternal copy from the father
Many genes exist in several variant forms in a large population
Homologous copies of a gene may encode identical or different genetic
information
The variants that exist for a gene are called alleles
An individual may have:
◦ Identical alleles for a specific gene on both homologs (homozygous for the trait), or
◦ A maternal allele that differs from the corresponding paternal allele (heterozygous for the
trait)
60
Halving the Chromosome Number
Overview of Meiosis
◦ Meiosis I
◦ Chromosomes are replicated prior to meiosis I
◦ Each chromosome consists of two identical sister chromatids
◦ Homologous chromosomes pair up – synapsis
◦ Homologous pairs align themselves against each other side by side at the metaphase plate
◦ The two members of a homologous pair separate
◦ Each daughter cell receives one duplicated chromosome from each pair
◦ Meiosis II
◦ DNA is not replicated between meiosis I and meiosis II
◦ Sister chromatids separate and move to opposite poles
◦ The four daughter cells contain one daughter chromosome from each pair
◦ Each daughter chromosome consists of a single chromatid
◦ The daughter cells are haploid
61
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
2n = 4
62
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
centrioles nucleolus
centromere
2n = 4
63
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
centrioles nucleolus
centromere
chromosome
duplication
2n = 4 2n = 4
MEIOSIS I
Homologous pairs
synapse and then separate. 64
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
sister chromatids
centrioles nucleolus synapsis
centromere
chromosome
duplication
2n = 4 2n = 4
MEIOSIS I
Homologous pairs
synapse and then separate. 65
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
First division
chromosome
duplication
2n = 4 2n = 4
n=2
MEIOSIS I
Homologous pairs
synapse and then separate.
66
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
chromosome
duplication
2n = 4 2n = 4
n=2
MEIOSIS I
Homologous pairs
synapse and then separate.
67
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
chromosome
duplication
2n = 4 2n = 4
n=2 n=2
MEIOSISI MEIOSISII
Homologous pairs Sister chromatids separate,
synapse and then separate. becoming daughter chromosomes.
68
Overview of Meiosis
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
chromosome
duplication
2n = 4 2n = 4
n=2 n=2
MEIOSISI MEIOSISII
Homologous pairs Sister chromatids separate,
synapse and then separate. becoming daughter chromosomes.
69
10.2 Genetic Variation
Meiosis brings about genetic variation in two key ways:
◦ Crossing-over between homologous chromosomes, and
◦ Independent assortment of homologous chromosomes
Crossing Over:
◦ Exchange of genetic material between non-sister chromatids during
meiosis I
◦ At synapsis, a nucleoprotein lattice (called the synaptonemal
complex) appears between homologues
◦ Holds homologues together
◦ Aligns DNA of non-sister chromatids
◦ Allows crossing-over to occur
◦ Then homologues separate and are distributed to different daughter
cells
70
Crossing Over Occurs During Meiosis I
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A A a a
A a
B B b b
B b chiasmata of
nonsister
chromatids c C C c
1 and 3
C c
D D d d
D d
12 34 1 2 3 4 1 2 3 4
Bivalent Crossing-over Daughter
forms has occurred chromosomes
a. b. c. d.
a: Courtesy Dr. D. Von Wettstein
71
Genetic Variation
Independent assortment
◦When homologous chromosome pairs align at the
metaphase plate:
◦ They separate in a random manner
◦ The maternal or paternal homologue may be oriented toward
either pole of mother cell
◦Causes random mixing of blocks of alleles into gametes
72
Independent Assortment
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Combination
Combination 3 Combination 5 7
Combination 1
73
Genetic Variation
Fertilization – union of male and female gametes
◦ Chromosomes donated by the parents are combined
◦ In humans, (223)2 = 70,368,744,000,000 chromosomally different zygotes are
possible
If crossing-over occurs only once
◦(423)2, or 4,951,760,200,000,000,000,000,000,000 genetically
different zygotes are possible
Crossing-over may occur several times in each chromosome
74
Genetic Variation
Significance of genetic variation:
◦ Asexual reproduction produces genetically identical clones
◦ Sexual reproduction causes genetic recombinations among members of a
population
◦ Asexual reproduction is advantageous when the environment is stable
◦ However, if the environment changes, genetic variability introduced by sexual
reproduction may be advantageous
◦ Some offspring may have a better chance of survival
75
The Phases of Meiosis
Meiosis I:
◦ Prophase I
◦ A spindle forms
◦ The nuclear envelope fragments
◦ The nucleolus disappears
◦ Each chromosome is duplicated (consists of two identical sister chromatids)
◦ Homologous chromosomes pair up and physically align themselves against each other side by side
(synapsis)
◦ Synapsed homologs are referred to as a bivalent (two homologues) or a tetrad (four chromatids)
◦ Metaphase I
◦ Homologous pairs are arranged at the metaphase plate
◦ Bivalents are aligned independently of one another
76
The Phases of Meiosis
Meiosis I
◦ Anaphase I
◦ Homologous chromosomes of each bivalent separate from one another
◦ Homologues move towards opposite poles
◦ Sister chromatids do not separate
◦ Each is still a duplicated chromosome with two chromatids
◦ Telophase I
◦ Daughter cells have one duplicated chromosome (n) from each homologous pair
77
The Phases of Meiosis
Interkinesis
◦ Two haploid (n) daughter cells, each with one duplicated
chromosome of each type
◦ Interkinesis is similar to mitotic interphase except
◦ It is usually shorter
◦ DNA replication does not occur
78
Meiosis I in Animal Cells
Meiosis I in Animal Cells
Meiosis I in Animal Cells
Meiosis I in Animal Cells
Spermatogenesis and
Oogenesis in Mammals
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SPERMATOGENESIS
OOGENESIS
primary primary
spermatocyte oocyte
2n 2n
Meiosis I Meiosis I
first
polarbody
secondary
spermatocytes n
secondary
n oocyte
Meiosis II
n
Meiosis II
spermatids
Meiosis II is completed
n second after entry of sperm
polarbody (fertilization)
n
Metamorphosis egg
Fertilization
and maturation
n
sperm Sperm nucleus
n
n
fusion of sperm
nucleus and zygote
agg nucleus 2n
Meiosis Compared to Mitosis
Meiosis Mitosis
◦ Requires one nuclear division
◦ Requires two nuclear divisions
◦ Chromosomes do not synapse nor
◦ Chromosomes synapse and cross cross over
over
◦ Centromeres dissolve in mitotic
◦ Centromeres survive Anaphase I anaphase
◦ Halves chromosome number ◦ Preserves chromosome number
◦ Produces four daughter nuclei ◦ Produces two daughter nuclei
◦ Produces daughter cells genetically ◦ Produces daughter cells genetically
different from parent and each identical to parent and to each
other other
◦ Used only for sexual reproduction ◦ Used for asexual reproduction and
growth
84
Meiosis Compared to Mitosis
85
Meiosis Compared to Mitosis
86
Changes in Chromosome Number and
Structure
Euploidy is the correct number of chromosomes in a
species.
Aneuploidy is a change in the chromosome number
◦ Results from nondisjunction
◦ Monosomy - only one of a particular type of chromosome,
◦ Trisomy - three of a particular type of chromosome
87
Nondisjunction
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pair of pair of
homologous homologous
chromosomes chromosomes
88
Nondisjunction
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
pair of pair of
homologous homologous
chromosomes chromosomes
89
Nondisjunction
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
pair of pair of
homologous homologous
chromosomes chromosomes
90
Nondisjunction
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
pair of pair of
homologous homologous
chromosomes chromosomes
Fertilization
91
Nondisjunction
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
pair of pair of
homologous homologous
chromosomes chromosomes
Fertilization
Zygote
92
Nondisjunction
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pair of pair of
homologous homologous
chromosomes chromosomes
Fertilization
Zygote
2n + 1 2n + 1 2n - 1 2n - 1 2n 2n 2n + 1 2n - 1
a. b.
93
Changes in Chromosome Number and
Structure
Trisomy occurs when an individual has three of a particular
type of chromosome
The most common autosomal trisomy seen among humans
is Trisomy 21
◦ Also called Down syndrome
◦ Recognized by these characteristics:
◦ short stature
◦ eyelid fold
◦ flat face
◦ stubby fingers
◦ wide gap between first and second toes
94
Trisomy 21
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
extra chromosome 21
a. b.
a: © Jose Carrilo/PhotoEdit; b: © CNRI/SPL/Photo Researchers
95
Changes in Chromosome Number and
Structure
Changes in sex chromosome number:
◦ Results from inheriting too many or too few X or Y chromosomes
◦ Nondisjunction during oogenesis or spermatogenesis
◦ Turner syndrome (XO)
◦ Female with a single X chromosome
◦ Short, with broad chest and widely spaced nipples
◦ Can be of normal intelligence and function with hormone therapy
96
Changes in Chromosome Number and
Structure
Changes in sex chromosome number:
◦ Klinefelter syndrome (XXY)
◦ Male with underdeveloped testes and prostate; some breast overdevelopment
◦ No matter how many X chromosomes are present, the presence of a chromosome Y renders the
individual male
97
Changes in Sex Chromosome
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
99
Changes in Chromosome Number and
Structure
◦ Changes in chromosome structure include:
◦ Inversion
◦ Occurs as a result of two breaks in a chromosome
◦ The internal segment is reversed before re-insertion
◦ Genes occur in reverse order in the inverted segment
100
Types of Chromosomal Mutation
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a a a
b b b b
c c c c
+ a
d d d d
e e e e
f d
f f
e
g g g
f
g
a. Deletion b. Duplication
a a a a
b b b l b l
c m c m
c d d n d n
d c
e o e o
e e
f p f p
f f
g q q g
g g
h r r h
c. Inversion d. Translocation
101
Deletion
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a a
b b
+ h
deletion lost
c c
d d
e e
f f
g g
a. b.
b: Courtesy The Williams Syndrome Association
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