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Chapter 8

The Cellular Basis of Reproduction and Inheritance


PowerPoint Lectures
Campbell Biology: Concepts & Connections, 8th Edition, Global Edition
REECE • TAYLOR • SIMON • DICKEY • HOGAN

© 2016 Pearson Education, Ltd.


Lecture by Edward J. Zalisko
8.15 Independent orientation of chromosomes in
meiosis and random fertilization lead to varied
offspring
• The differences seen in organisms of the same
kind (species) is called variation.

• There are two causes of variation:


1. Different DNA (genes) – it is called genetic
variation
2. Different environment – it is called environmental
variation

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Genetic variation example – all people belong to the same species but look
different because they have small differences in their genes (DNA)
Environmental variation example – the same organism may look different in different
environment
8.15 Independent orientation of chromosomes in
meiosis and random fertilization lead to varied
offspring
• Genetic variation in gametes results from:
1. independent orientation at metaphase I
2. random fertilization.
3. Crossing over.
4. Mutation

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8.15 Independent orientation of
chromosomes in meiosis and random
fertilization lead to varied offspring
Independent orientation at metaphase I
• Each pair of chromosomes independently aligns at
the cell equator.
• There is an equal probability of the maternal or
paternal chromosome facing a given pole.
• The number of combinations for chromosomes
packaged into gametes is 2n, where n = haploid
number of chromosomes.

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Figure 8.15-3

Possibility A Possibility B
Two equally probable
arrangements of
chromosomes at
metaphase I

Metaphase II

Gametes

Combination 1 Combination 2 Combination 3 Combination 4

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8.15 Independent orientation of
chromosomes in meiosis and random
fertilization lead to varied offspring
Random fertilization
• Means that the combination of each unique sperm with
each unique egg increases genetic variability.
• Fertilization is the fusion (joining) of male gamete
(sperm) with the female gamete (egg). There are
millions of sperms, each with a different combination of
chromosomes. Also there are many eggs, each with a
different combination of chromosomes. Any sperm may
fertilize any egg so there are lots of combinations
possible.
8.16 Homologous chromosomes may carry
different versions of genes

• Separation of homologous chromosomes during


meiosis can lead to genetic differences between
gametes.
• Homologous chromosomes may have different
versions of a gene at the same locus.
• One version was inherited from the maternal parent
and the other came from the paternal parent.
• Since homologous chromosomes move to opposite
poles during anaphase I, gametes will receive either
the maternal or paternal version of the gene.

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Figure 8.16-0

Coat-color Eye-color
genes genes

Brown Black C E
C E Brown coat (C);
C E black eyes (E)
Meiosis
c e
c e c e
White Pink
Tetrad in parent cell Chromosomes of
(homologous pair of the four gametes White coat (c);
duplicated chromosomes) pink eyes (e)

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8.17 Crossing over further increases genetic
variability

• Genetic recombination is the production of new


combinations of genes due to crossing over.
• Crossing over is an exchange of corresponding
segments between nonsister chromatids of
homologous chromosomes.
• Nonsister chromatids join at a chiasma (plural,
chiasmata), the site of attachment and crossing
over.
• Corresponding amounts of genetic material are
exchanged between maternal and paternal
(nonsister) chromatids.
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Animation: Crossing Over

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Figure 8.17a-0

Sister
Chiasma chromatids

Tetrad

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Figure 8.17b-1
C E Tetrad
(pair of homologous
chromosomes in synapsis)
c e

1 Breakage of nonsister chromatids

C E

c e

2 Joining of nonsister chromatids

C E
Chiasma
c e
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Figure 8.17b-2

C E
Chiasma
c e
3 Separation of homologous
chromosomes at anaphase I

C E
C e
c E

c e

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Figure 8.17b-3
C E

C e
c E
c e
4 Separation of chromatids at
anaphase II and
completion of meiosis

C E
Parental type of chromosome
C e
Recombinant chromosome
c E
Recombinant chromosome
c e
Parental type of chromosome
Gametes of four genetic types
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ALTERATIONS OF CHROMOSOME NUMBER AND
STRUCTURE

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8.18 Accidents during meiosis can alter
chromosome number

• Nondisjunction is the failure of chromosomes or


chromatids to separate normally during meiosis.
This can happen during
• meiosis I, if both members of a homologous pair go
to one pole, or
• meiosis II, if both sister chromatids go to one pole.
• Fertilization after nondisjunction yields zygotes with
altered numbers of chromosomes.

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Figure 8.18-1-3
Meiosis I

Nondisjunction

Meiosis II

Normal
meiosis II

Gametes

Number of n+1 n+1 n−1 n−1


chromosomes
Abnormal gametes
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Figure 8.18-2-3
Meiosis I

Normal
meiosis I

Meiosis II

Nondisjunction

n+1 n−1 n n

Abnormal gametes Normal gametes


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8.19 A karyotype is a photographic inventory
of an individual’s chromosomes

• A karyotype is an ordered display of magnified


images of an individual’s chromosomes arranged
in pairs.
• Karyotypes
• are often produced from dividing cells arrested at
metaphase of mitosis and
• allow for the observation of:
• homologous chromosome pairs,
• chromosome number, and
• chromosome structure.

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Figure 8.19-1-1

Packed red
and white
blood cells

Centrifuge
Blood
culture

Fluid

A blood culture is centrifuged to


separate the blood cells from fluid

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Figure 8.19-1-2

Packed red Hypotonic


and white solution
blood cells

Centrifuge
Blood
culture

Fluid
The fluid is discarded, and a hypotonic
solution is mixed with the cells. This makes
the RBCs burst. The WBCs swell but do not
burst, and their chromosomes spread out.

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Figure 8.19-1-3

Packed red Hypotonic Fixative


and white solution
blood cells
Stain
White
Centrifuge blood
Blood
culture cells

Fluid
Another centrifugation step separates
the swollen white blood cells. The fluid
containing the remnants of the RBCs
is poured off. Preservative is mixed
with the WBCs. A drop of the cell
suspension is spread on a microscope
slide, dried, and stained.
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Figure 8.19-2

The slide is viewed with a digital microscope. Software is used to


electronically arrange the photographed chromosomes by size and shape.

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The resulting display is the karyotype. The 46 chromosomes here included 22 pairs of autosomes
and two sex chromosomes, X and Y. Each of the chromosomes consists of two sister chromatids
joined along their length.

Centromere

Sister
chromatids

Pair of
homologous
chromosomes

Sex chromosomes

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8.20 CONNECTION: An extra copy of
chromosome 21 causes Down syndrome

• Trisomy 21
• involves the inheritance of three copies of
chromosome 21 and
• is the most common human chromosome
abnormality.

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8.20 CONNECTION: An extra copy of
chromosome 21 causes Down syndrome

• A person with trisomy 21 has a condition called


Down syndrome, which produces a characteristic
set of symptoms, including
• characteristic facial features,
• short stature,
• heart defects,
• susceptibility to respiratory infections, leukemia, and
Alzheimer’s disease, and
• varying degrees of developmental disabilities.
• The incidence increases with the age of the mother.
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Figure 8.20a-0

Trisomy 21

A person with Down syndrome

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Figure 8.20b

Infants with Down syndrome 90


80

70
(per 1,000 births)

60

50
40

30
20
10
0
20 25 30 35 40 45
Age of mother
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8.21 CONNECTION: Abnormal numbers of
sex chromosomes do not usually affect
survival
• Sex chromosome abnormalities seem to upset the
genetic balance less than an unusual number of
autosomes. This may be because of
• the small size of the Y chromosome or
• X chromosome inactivation.

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8.21 CONNECTION: Abnormal numbers of
sex chromosomes do not usually affect
survival
• The following table lists the most common human
sex chromosome abnormalities. In general,
• a single Y chromosome is enough to produce
“maleness,” even in combination with several X
chromosomes, and
• the absence of a Y chromosome yields
“femaleness.”

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Table 8.21

https://youtu.be/wg6Gwra00SQ
https://youtu.be/YQG8o5b4lKg
https://youtu.be/c9ne4Cwy9T4

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8.22 EVOLUTION CONNECTION: New species
can arise from errors in cell division

• Errors in mitosis or meiosis may produce polyploid


species, with more than two chromosome sets.
• The formation of polyploid species is
• widely observed in many plant species but
• less frequently found in animals.

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Figure 8.22

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8.23 CONNECTION: Alterations of
chromosome structure can cause birth
defects and cancer
• Chromosome breakage can lead to
rearrangements that can produce genetic disorders
or, if changes occur in somatic cells, cancer.

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8.23 CONNECTION: Alterations of
chromosome structure can cause birth
defects and cancer
• These rearrangements can lead to four types of
changes in chromosome structure.
1. A deletion is the loss of a chromosome segment.
2. A duplication is the repeat of a chromosome
segment.
3. An inversion is the reversal of a chromosome
segment.
4. A translocation is the attachment of a segment
to a nonhomologous chromosome. A translocation
may be reciprocal.

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8.23 CONNECTION: Alterations of
chromosome structure can cause birth
defects and cancer
• Inversions are less likely than deletions or
duplications to produce harmful effects, because in
inversions all genes are still present in their normal
number.

• Many deletions cause serious physical or mental


problems.

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Figure 8.23a-0

Deletion Inversion

Duplication Reciprocal translocation

Homologous
chromosomes Nonhomologous
chromosomes

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Figure 8.23a-1

Deletion
A segment of a
chromosomes
is removed.

Duplication
A segment of a
chromosome is
copied into the
homologous
chromosome Homologous
chromosomes

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Figure 8.23a-2

Inversion
A segment of a chromosome is removed and then
reinserted opposite to its original orientation.

Reciprocal translocation
Segments of two non-homologous chromosomes
swap locations with each other

Nonhomologous
chromosomes

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8.23 CONNECTION: Alterations of
chromosome structure can cause birth
defects and cancer
• Chronic myelogenous leukemia (CML)
• is one of the most common leukemias,
• affects cells that give rise to white blood cells (leukocytes),
and
• results from a reciprocal translocation in which part of
chromosome 22 switches places with a small fragment from
a tip of chromosome 9.
• Such an exchange causes cancer by activating a gene that
leads to uncontrolled cell cycle progression.
• Because the chromosomal changes in cancer are usually
confined to somatic cells, cancer is not usually inherited.

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Figure 8.23b

Chromosome 9

Chromosome 22 Reciprocal
translocation

Activated cancer-causing gene

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