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Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings
PowerPoint® Lecture Presentations for
Biology
Eighth Edition
Neil Campbell and Jane Reece
Lectures by Chris Romero, updated by Erin Barley with contributions from Joan Sharp
Chapter 15
The Chromosomal Basis of
Inheritance
Overview: Locating Genes Along Chromosomes
• Mendel’s “hereditary factors” were
genes, though this wasn’t known at the time
• Today we can show that genes are located on
chromosomes
• The location of a particular gene can be seen
by tagging isolated chromosomes with a
fluorescent dye that highlights the gene
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-1
Concept 15.1: Mendelian inheritance has its
physical basis in the behavior of chromosomes
• Mitosis and meiosis were first described in the
late 1800s
• The chromosome theory of inheritance
states:
– Mendelian genes have specific loci (positions) on
chromosomes
– Chromosomes undergo segregation and independent
assortment
• The behavior of chromosomes during meiosis
was said to account for Mendel’s laws of
segregation and independent assortment
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-2
P Generation Yellow-round
seeds (YYRR)
Y
F1 Generation
Y
R R
R Y
 r
r
r
y
y
y
Meiosis
Fertilization
Gametes
Green-wrinkled
seeds (yyrr)
All F1 plants produce
yellow-round seeds (YyRr)
R R
YY
r r
y y
Meiosis
R R
Y Y
r r
y y
Metaphase I
Y Y
R Rrr
y y
Anaphase I
r r
y Y
Metaphase IIR
Y
R
y
yyy
RR
YY
rrrr
yYY
R R
yRYryrYR1/4
1/4
1/4
1/4
F2 Generation
Gametes
An F1  F1 cross-fertilization
9 : 3 : 3 : 1
LAW OF INDEPENDENT
ASSORTMENT Alleles of genes
on nonhomologous
chromosomes assort
independently during gamete
formation.
LAW OF SEGREGATION
The two alleles for each gene
separate during gamete
formation.
1
2
33
2
1
Fig. 15-2a
P Generation
Gametes
Meiosis
Fertilization
Yellow-round
seeds (YYRR)
Green-wrinkled
seeds ( yyrr)
All F1 plants produce
yellow-round seeds (YyRr)
y
y
y
r
r
r
Y
Y
YR
RR

Fig. 15-2b
0.5 mm
Meiosis
Metaphase I
Anaphase I
Metaphase II
Gametes
LAW OF SEGREGATION
The two alleles for each gene
separate during gamete
formation.
LAW OF INDEPENDENT
ASSORTMENT Alleles of genes
on nonhomologous
chromosomes assort
independently during gamete
formation.
1
4
yr 1 4
Yr1
4 YR
3 3
F1 Generation
1 4
yR
R
R
R
R
RR
R
R R R R
R
Y
Y
Y Y
Y
YY
Y
YY
YY
y
r r
rr
r r
rr
r r r r
y
y
y
y
y
y y
yyy
y
All F1 plants produce
yellow-round seeds (YyRr)
1
2 2
1
Fig. 15-2c
F2 Generation
An F1  F1 cross-fertilization
9 : 3 : 3 : 1
3 3
Morgan’s Experimental Evidence: Scientific
Inquiry
• The first solid evidence associating a specific
gene with a specific chromosome came from
Thomas Hunt Morgan, an embryologist
• Morgan’s experiments with fruit flies provided
convincing evidence that chromosomes are the
location of Mendel’s heritable factors
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Morgan’s Choice of Experimental Organism
• Several characteristics make fruit flies a
convenient organism for genetic studies:
– They breed at a high rate
– A generation can be bred every two weeks
– They have only four pairs of chromosomes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• Morgan noted wild type, or
normal, phenotypes that were common in the
fly populations
• Traits alternative to the wild type are called
mutant phenotypes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-3
Correlating Behavior of a Gene’s Alleles with
Behavior of a Chromosome Pair
• In one experiment, Morgan mated male flies
with white eyes (mutant) with female flies with
red eyes (wild type)
– The F1 generation all had red eyes
– The F2 generation showed the 3:1 red:white
eye ratio, but only males had white eyes
• Morgan determined that the white-eyed mutant
allele must be located on the X chromosome
• Morgan’s finding supported the chromosome
theory of inheritance
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-4
P
Generation
Generation
Generation
Generation
Generation
Generation
F1
F2
All offspring
had red eyes
Sperm
Eggs
F1
F2
P
Sperm
Eggs


X
X
X
Y
CONCLUSION
EXPERIMENT
RESULTS
w
w
w
w
w
w
w w
+
+
+
+ +
w
w
w w
w
w
w
ww
+
+
+
+ +
+
Fig. 15-4a
EXPERIMENT
P
Generation
Generation
F1 All offspring
had red eyes

Fig. 15-4b
RESULTS
Generation
F2
Fig. 15-4c
Eggs
F1
CONCLUSION
Generation
Generation
P X
X
w
Sperm
X
Y
+
+
+
+ +
Eggs
Sperm
+
+
+ +
+
Generation
F2

w
w
w
ww
w
w
w
w
w
w
w
w
w
w
Concept 15.2: Sex-linked genes exhibit unique
patterns of inheritance
• In humans and some other animals, there is a
chromosomal basis of sex determination
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
The Chromosomal Basis of Sex
• In humans and other mammals, there are two
varieties of sex chromosomes: a larger X
chromosome and a smaller Y chromosome
• Only the ends of the Y chromosome have
regions that are homologous with the X
chromosome
• The SRY gene on the Y chromosome codes for
the development of testes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-5
X
Y
• Females are XX, and males are XY
• Each ovum contains an X chromosome, while
a sperm may contain either an X or a Y
chromosome
• Other animals have different methods of sex
determination
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-6
44 +
XY
Parents
44 +
XX
22 +
X
22 +
X
22 +
Yor +
44 +
XX or
Sperm Egg
44 +
XY
Zygotes (offspring)
(a) The X-Y system
22 +
XX
22 +
X
(b) The X-0 system
76 +
ZW
76 +
ZZ
(c) The Z-W system
32
(Diploid)
16
(Haploid)
(d) The haplo-diploid system
Fig. 15-6a
(a) The X-Y system
44 +
XY
44 +
XX
Parents
44 +
XY
44 +
XX
22 +
X
22 +
X
22 +
Yor
or
Sperm Egg
+
Zygotes (offspring)
Fig. 15-6b
(b) The X-0 system
22 +
XX
22 +
X
Fig. 15-6c
(c) The Z-W system
76 +
ZW
76 +
ZZ
Fig. 15-6d
(d) The haplo-diploid system
32
(Diploid)
16
(Haploid)
Inheritance of Sex-Linked Genes
• The sex chromosomes have genes for many
characters unrelated to sex
• A gene located on either sex chromosome is
called a sex-linked gene
• In humans, sex-linked usually refers to a gene
on the larger X chromosome
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• Sex-linked genes follow specific patterns of
inheritance
• For a recessive sex-linked trait to be expressed
– A female needs two copies of the allele
– A male needs only one copy of the allele
• Sex-linked recessive disorders are much more
common in males than in females
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-7
(a) (b) (c)
XN
XN Xn
Y XN
Xn
  XN
Y XN
Xn
 Xn
Y
YXn
SpermYXN
SpermYXn
Sperm
XN
Xn
Eggs XN
XN
XN
Xn
XN
Y
XN
Y
Eggs XN
Xn
XN
XN
Xn
XN
XN
Y
Xn
Y
Eggs XN
Xn
XN
Xn
Xn
Xn
XN
Y
Xn
Y
• Some disorders caused by recessive alleles on
the X chromosome in humans:
– Color blindness
– Duchenne muscular dystrophy
– Hemophilia
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
X Inactivation in Female Mammals
• In mammalian females, one of the two X
chromosomes in each cell is randomly
inactivated during embryonic development
• The inactive X condenses into a Barr body
• If a female is heterozygous for a particular
gene located on the X chromosome, she will be
a mosaic for that character
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-8
X chromosomes
Early embryo:
Allele for
orange fur
Allele for
black fur
Cell division and
X chromosome
inactivationTwo cell
populations
in adult cat:
Active X
Active X
Inactive X
Black fur Orange fur
• Each chromosome has hundreds or thousands
of genes
• Genes located on the same chromosome that
tend to be inherited together are called linked
genes
Concept 15.3: Linked genes tend to be inherited
together because they are located near each other on
the same chromosome
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
How Linkage Affects Inheritance
• Morgan did other experiments with fruit flies to
see how linkage affects inheritance of two
characters
• Morgan crossed flies that differed in traits of
body color and wing size
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-UN1
b+ vg+
Parents
in testcross
Most
offspring
b+ vg+
b vg
b vg
b vg
b vg
b vg
b vg

or
Fig. 15-9-1
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body,
normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vgb+ b+ vg+ vg+
Fig. 15-9-2
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body,
normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
Double mutant
TESTCROSS

b+ b+ vg+ vg+
F1 dihybrid
(wild type)
b+ b vg+ vg
Fig. 15-9-3
EXPERIMENT
P Generation (homozygous)
Wild type
(gray body,
normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
Double mutant
TESTCROSS

b+ b+ vg+ vg+
F1 dihybrid
(wild type)
b+ b vg+ vg
Testcross
offspring Eggs b+ vg+ b vg b+ vg b vg+
Black-
normal
Gray-
vestigial
Black-
vestigial
Wild type
(gray-normal)
b vg
Sperm
b+ b vg+ vg b b vg vg b+ b vg vgb b vg+ vg
Fig. 15-9-4
EXPERIMENT
P Generation (homozygous)
RESULTS
Wild type
(gray body,
normal wings)
Double mutant
(black body,
vestigial wings)
b b vg vg
b b vg vg
Double mutant
TESTCROSS

b+ b+ vg+ vg+
F1 dihybrid
(wild type)
b+ b vg+ vg
Testcross
offspring Eggs b+ vg+ b vg b+ vg b vg+
Black-
normal
Gray-
vestigial
Black-
vestigial
Wild type
(gray-normal)
b vg
Sperm
b+ b vg+ vg b b vg vg b+ b vg vgb b vg+ vg
PREDICTED RATIOS
If genes are located on different chromosomes:
If genes are located on the same chromosome and
parental alleles are always inherited together:
1
1
1
1
1 1
0 0
965 944 206 185
:
:
:
:
:
:
:
:
:
• Morgan found that body color and wing size
are usually inherited together in specific
combinations (parental phenotypes)
• He noted that these genes do not assort
independently, and reasoned that they were on
the same chromosome
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• However, nonparental phenotypes were also
produced
• Understanding this result involves exploring
genetic recombination, the production of
offspring with combinations of traits differing
from either parent
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Genetic Recombination and Linkage
• The genetic findings of Mendel and Morgan
relate to the chromosomal basis of
recombination
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Recombination of Unlinked Genes: Independent
Assortment of Chromosomes
• Mendel observed that combinations of traits in
some offspring differ from either parent
• Offspring with a phenotype matching one of the
parental phenotypes are called parental types
• Offspring with nonparental phenotypes (new
combinations of traits) are called recombinant
types, or recombinants
• A 50% frequency of recombination is observed
for any two genes on different chromosomes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-UN2
YyRr
Gametes from green-
wrinkled homozygous
recessive parent (yyrr)
Gametes from yellow-round
heterozygous parent (YyRr)
Parental-
type
offspring
Recombinant
offspring
yr
yyrr Yyrr yyRr
YR yr Yr yR
Recombination of Linked Genes: Crossing Over
• Morgan discovered that genes can be
linked, but the linkage was incomplete, as
evident from recombinant phenotypes
• Morgan proposed that some process must
sometimes break the physical connection
between genes on the same chromosome
• That mechanism was the crossing over of
homologous chromosomes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Animation: Crossing Over
Fig. 15-10
Testcross
parents
Replication
of chromo-
somes
Gray body, normal wings
(F1 dihybrid)
Black body, vestigial wings
(double mutant)
Replication
of chromo-
somes
b+ vg+
b+ vg+
b+ vg+
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b+ vg+
b+ vg
b vg+
b vg
Recombinant
chromosomes
Meiosis I and II
Meiosis I
Meiosis II
b vg+b+ vgb vgb+ vg+
Eggs
Testcross
offspring
965
Wild type
(gray-normal)
944
Black-
vestigial
206
Gray-
vestigial
185
Black-
normal
b+ vg+
b vg b vg
b vg b+ vg
b vg b vg
b vg+
Sperm
b vg
Parental-type offspring Recombinant offspring
Recombination
frequency =
391 recombinants
2,300 total offspring
 100 = 17%
Fig. 15-10a
Testcross
parents
Replication
of chromo-
somes
Gray body, normal wings
(F1 dihybrid)
Black body, vestigial wings
(double mutant)
Replication
of chromo-
somes
b+ vg+
b+ vg+
b+ vg+
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b vg
b+ vg+
b+ vg
b vg+
b vg
Recombinant
chromosomes
Meiosis I and II
Meiosis I
Meiosis II
Eggs Sperm
b+ vg+
b vg b+ vg b vgb vg+
Fig. 15-10b
Testcross
offspring
965
Wild type
(gray-normal)
944
Black-
vestigial
206
Gray-
vestigial
185
Black-
normal
b+ vg+
b vg b vg
b vg b+ vg
b vg
b vg
b+ vg+
Spermb vg
Parental-type offspring Recombinant offspring
Recombination
frequency
=
391 recombinants
2,300 total offspring
 100 = 17%
b vg
b+ vg b vg+
b vg+
Eggs
Recombinant
chromosomes
Mapping the Distance Between Genes Using
Recombination Data: Scientific Inquiry
• Alfred Sturtevant, one of Morgan’s
students, constructed a genetic map, an
ordered list of the genetic loci along a particular
chromosome
• Sturtevant predicted that the farther apart two
genes are, the higher the probability that a
crossover will occur between them and
therefore the higher the recombination
frequency
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• A linkage map is a genetic map of a
chromosome based on recombination
frequencies
• Distances between genes can be expressed as
map units; one map unit, or
centimorgan, represents a 1% recombination
frequency
• Map units indicate relative distance and
order, not precise locations of genes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-11
RESULTS
Recombination
frequencies
Chromosome
9% 9.5%
17%
b cn vg
• Genes that are far apart on the same
chromosome can have a recombination
frequency near 50%
• Such genes are physically linked, but
genetically unlinked, and behave as if found on
different chromosomes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• Sturtevant used recombination frequencies to
make linkage maps of fruit fly genes
• Using methods like chromosomal
banding, geneticists can develop cytogenetic
maps of chromosomes
• Cytogenetic maps indicate the positions of
genes with respect to chromosomal features
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-12
Mutant phenotypes
Short
aristae
Black
body
Cinnabar
eyes
Vestigial
wings
Brown
eyes
Red
eyes
Normal
wings
Red
eyes
Gray
body
Long aristae
(appendages
on head)
Wild-type phenotypes
0 48.5 57.5 67.0 104.5
Concept 15.4: Alterations of chromosome number
or structure cause some genetic disorders
• Large-scale chromosomal alterations often
lead to spontaneous abortions (miscarriages)
or cause a variety of developmental disorders
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Abnormal Chromosome Number
• In nondisjunction, pairs of homologous
chromosomes do not separate normally during
meiosis
• As a result, one gamete receives two of the
same type of chromosome, and another
gamete receives no copy
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-13-1
Meiosis I
(a) Nondisjunction of homologous
chromosomes in meiosis I
(b) Nondisjunction of sister
chromatids in meiosis II
Nondisjunction
Fig. 15-13-2
Meiosis I
Nondisjunction
(a) Nondisjunction of homologous
chromosomes in meiosis I
(b) Nondisjunction of sister
chromatids in meiosis II
Meiosis II
Nondisjunction
Fig. 15-13-3
Meiosis I
Nondisjunction
(a) Nondisjunction of homologous
chromosomes in meiosis I
(b) Nondisjunction of sister
chromatids in meiosis II
Meiosis II
Nondisjunction
Gametes
Number of chromosomes
n + 1 n + 1 n + 1n – 1 n – 1 n – 1 n n
• Aneuploidy results from the fertilization of
gametes in which nondisjunction occurred
• Offspring with this condition have an abnormal
number of a particular chromosome
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• A monosomic zygote has only one copy of a
particular chromosome
• A trisomic zygote has three copies of a
particular chromosome
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
• Polyploidy is a condition in which an organism
has more than two complete sets of
chromosomes
– Triploidy (3n) is three sets of chromosomes
– Tetraploidy (4n) is four sets of chromosomes
• Polyploidy is common in plants, but not animals
• Polyploids are more normal in appearance than
aneuploids
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-14
Alterations of Chromosome Structure
• Breakage of a chromosome can lead to four
types of changes in chromosome structure:
– Deletion removes a chromosomal segment
– Duplication repeats a segment
– Inversion reverses a segment within a
chromosome
– Translocation moves a segment from one
chromosome to another
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-15
Deletion
A B C D E F G H A B C E F G H
(a)
(b)
(c)
(d)
Duplication
Inversion
Reciprocal
translocation
A B C D E F G H
A B C D E F G H
A B C D E F G H
A B C B C D E F G H
A D C B E F G H
M N O C D E F G H
M N O P Q R A B P Q R
Human Disorders Due to Chromosomal
Alterations
• Alterations of chromosome number and
structure are associated with some serious
disorders
• Some types of aneuploidy appear to upset the
genetic balance less than others, resulting in
individuals surviving to birth and beyond
• These surviving individuals have a set of
symptoms, or syndrome, characteristic of the
type of aneuploidy
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Down Syndrome (Trisomy 21)
• Down syndrome is an aneuploid condition that
results from three copies of chromosome 21
• It affects about one out of every 700 children
born in the United States
• The frequency of Down syndrome increases
with the age of the mother, a correlation that
has not been explained
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-16
Fig. 15-16a
Fig. 15-16b
Aneuploidy of Sex Chromosomes
• Nondisjunction of sex chromosomes produces
a variety of aneuploid conditions
• Klinefelter syndrome is the result of an extra
chromosome in a male, producing XXY
individuals
• Monosomy X, called Turner
syndrome, produces X0 females, who are
sterile; it is the only known viable monosomy in
humans
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Disorders Caused by Structurally Altered
Chromosomes
• The syndrome cri du chat (“cry of the
cat”), results from a specific deletion in
chromosome 5
• A child born with this syndrome is mentally
retarded and has a catlike cry; individuals
usually die in infancy or early childhood
• Certain cancers, including chronic
myelogenous leukemia (CML), are caused by
translocations of chromosomes
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-17
Normal chromosome 9
Normal chromosome 22
Reciprocal
translocation Translocated chromosome 9
Translocated chromosome 22
(Philadelphia chromosome)
Concept 15.5: Some inheritance patterns are
exceptions to the standard chromosome theory
• There are two normal exceptions to Mendelian
genetics
• One exception involves genes located in the
nucleus, and the other exception involves
genes located outside the nucleus
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Genomic Imprinting
• For a few mammalian traits, the phenotype
depends on which parent passed along the
alleles for those traits
• Such variation in phenotype is called genomic
imprinting
• Genomic imprinting involves the silencing of
certain genes that are “stamped” with an
imprint during gamete production
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-18
Normal Igf2 allele
is expressed
Paternal
chromosome
Maternal
chromosome
Normal Igf2 allele
is not expressed
Mutant Igf2 allele
inherited from mother
(a) Homozygote
Wild-type mouse
(normal size)
Mutant Igf2 allele
inherited from father
Normal size mouse
(wild type)
Dwarf mouse
(mutant)
Normal Igf2 allele
is expressed
Mutant Igf2 allele
is expressed
Mutant Igf2 allele
is not expressed
Normal Igf2 allele
is not expressed
(b) Heterozygotes
Fig. 15-18a
Normal Igf2 allele
is expressed
Paternal
chromosome
Maternal
chromosome
(a) Homozygote
Wild-type mouse
(normal size)
Normal Igf2 allele
is not expressed
Fig. 15-18b
Mutant Igf2 allele
inherited from mother
Mutant Igf2 allele
inherited from father
Normal size mouse
(wild type)
Dwarf mouse
(mutant)
Normal Igf2 allele
is expressed
Mutant Igf2 allele
is expressed
Mutant Igf2 allele
is not expressed
Normal Igf2 allele
is not expressed
(b) Heterozygotes
• It appears that imprinting is the result of the
methylation (addition of –CH3) of DNA
• Genomic imprinting is thought to affect only a
small fraction of mammalian genes
• Most imprinted genes are critical for embryonic
development
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-UN3
Inheritance of Organelle Genes
• Extranuclear genes (or cytoplasmic genes) are
genes found in organelles in the cytoplasm
• Mitochondria, chloroplasts, and other plant
plastids carry small circular DNA molecules
• Extranuclear genes are inherited maternally
because the zygote’s cytoplasm comes from
the egg
• The first evidence of extranuclear genes came
from studies on the inheritance of yellow or
white patches on leaves of an otherwise green
plant
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-19
• Some defects in mitochondrial genes prevent
cells from making enough ATP and result in
diseases that affect the muscular and nervous
systems
– For example, mitochondrial myopathy and
Leber’s hereditary optic neuropathy
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Fig. 15-UN4
EggSperm
P generation
gametes
C
B
AD E
F
D
F E
A
B
C
e
d
f
c ba
d
f
e
c
b
a
This F1 cell has 2n = 6
chromosomes and is
heterozygous for all six
genes shown (AaBbCcDdEeFf).
Red = maternal; blue = paternal.
+
Each chromosome
has hundreds or
thousands of genes.
Four (A, B, C, F) are
shown on this one.
The alleles of unlinked
genes are either on
separate chromosomes
(such as d and e) or so
far apart on the same
chromosome (c and f)
that they assort
independently.
Genes on the same chromo-
some whose alleles are so
close together that they do
not assort independently
(such as a, b, and c) are said
to be linked.
Fig. 15-UN5
Fig. 15-UN6
Fig. 15-UN7
Fig. 15-UN8
Fig. 15-UN9
You should now be able to:
1. Explain the chromosomal theory of
inheritance and its discovery
2. Explain why sex-linked diseases are more
common in human males than females
3. Distinguish between sex-linked genes and
linked genes
4. Explain how meiosis accounts for
recombinant phenotypes
5. Explain how linkage maps are constructed
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
6. Explain how nondisjunction can lead to
aneuploidy
7. Define trisomy, triploidy, and polyploidy
8. Distinguish among
deletions, duplications, inversions, and
translocations
9. Explain genomic imprinting
10.Explain why extranuclear genes are not
inherited in a Mendelian fashion
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

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Chapter 15 chromosomes

  • 1. Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings PowerPoint® Lecture Presentations for Biology Eighth Edition Neil Campbell and Jane Reece Lectures by Chris Romero, updated by Erin Barley with contributions from Joan Sharp Chapter 15 The Chromosomal Basis of Inheritance
  • 2. Overview: Locating Genes Along Chromosomes • Mendel’s “hereditary factors” were genes, though this wasn’t known at the time • Today we can show that genes are located on chromosomes • The location of a particular gene can be seen by tagging isolated chromosomes with a fluorescent dye that highlights the gene Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 4. Concept 15.1: Mendelian inheritance has its physical basis in the behavior of chromosomes • Mitosis and meiosis were first described in the late 1800s • The chromosome theory of inheritance states: – Mendelian genes have specific loci (positions) on chromosomes – Chromosomes undergo segregation and independent assortment • The behavior of chromosomes during meiosis was said to account for Mendel’s laws of segregation and independent assortment Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 5. Fig. 15-2 P Generation Yellow-round seeds (YYRR) Y F1 Generation Y R R R Y  r r r y y y Meiosis Fertilization Gametes Green-wrinkled seeds (yyrr) All F1 plants produce yellow-round seeds (YyRr) R R YY r r y y Meiosis R R Y Y r r y y Metaphase I Y Y R Rrr y y Anaphase I r r y Y Metaphase IIR Y R y yyy RR YY rrrr yYY R R yRYryrYR1/4 1/4 1/4 1/4 F2 Generation Gametes An F1  F1 cross-fertilization 9 : 3 : 3 : 1 LAW OF INDEPENDENT ASSORTMENT Alleles of genes on nonhomologous chromosomes assort independently during gamete formation. LAW OF SEGREGATION The two alleles for each gene separate during gamete formation. 1 2 33 2 1
  • 6. Fig. 15-2a P Generation Gametes Meiosis Fertilization Yellow-round seeds (YYRR) Green-wrinkled seeds ( yyrr) All F1 plants produce yellow-round seeds (YyRr) y y y r r r Y Y YR RR 
  • 7. Fig. 15-2b 0.5 mm Meiosis Metaphase I Anaphase I Metaphase II Gametes LAW OF SEGREGATION The two alleles for each gene separate during gamete formation. LAW OF INDEPENDENT ASSORTMENT Alleles of genes on nonhomologous chromosomes assort independently during gamete formation. 1 4 yr 1 4 Yr1 4 YR 3 3 F1 Generation 1 4 yR R R R R RR R R R R R R Y Y Y Y Y YY Y YY YY y r r rr r r rr r r r r y y y y y y y yyy y All F1 plants produce yellow-round seeds (YyRr) 1 2 2 1
  • 8. Fig. 15-2c F2 Generation An F1  F1 cross-fertilization 9 : 3 : 3 : 1 3 3
  • 9. Morgan’s Experimental Evidence: Scientific Inquiry • The first solid evidence associating a specific gene with a specific chromosome came from Thomas Hunt Morgan, an embryologist • Morgan’s experiments with fruit flies provided convincing evidence that chromosomes are the location of Mendel’s heritable factors Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 10. Morgan’s Choice of Experimental Organism • Several characteristics make fruit flies a convenient organism for genetic studies: – They breed at a high rate – A generation can be bred every two weeks – They have only four pairs of chromosomes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 11. • Morgan noted wild type, or normal, phenotypes that were common in the fly populations • Traits alternative to the wild type are called mutant phenotypes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 13. Correlating Behavior of a Gene’s Alleles with Behavior of a Chromosome Pair • In one experiment, Morgan mated male flies with white eyes (mutant) with female flies with red eyes (wild type) – The F1 generation all had red eyes – The F2 generation showed the 3:1 red:white eye ratio, but only males had white eyes • Morgan determined that the white-eyed mutant allele must be located on the X chromosome • Morgan’s finding supported the chromosome theory of inheritance Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 14. Fig. 15-4 P Generation Generation Generation Generation Generation Generation F1 F2 All offspring had red eyes Sperm Eggs F1 F2 P Sperm Eggs   X X X Y CONCLUSION EXPERIMENT RESULTS w w w w w w w w + + + + + w w w w w w w ww + + + + + +
  • 17. Fig. 15-4c Eggs F1 CONCLUSION Generation Generation P X X w Sperm X Y + + + + + Eggs Sperm + + + + + Generation F2  w w w ww w w w w w w w w w w
  • 18. Concept 15.2: Sex-linked genes exhibit unique patterns of inheritance • In humans and some other animals, there is a chromosomal basis of sex determination Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 19. The Chromosomal Basis of Sex • In humans and other mammals, there are two varieties of sex chromosomes: a larger X chromosome and a smaller Y chromosome • Only the ends of the Y chromosome have regions that are homologous with the X chromosome • The SRY gene on the Y chromosome codes for the development of testes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 21. • Females are XX, and males are XY • Each ovum contains an X chromosome, while a sperm may contain either an X or a Y chromosome • Other animals have different methods of sex determination Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 22. Fig. 15-6 44 + XY Parents 44 + XX 22 + X 22 + X 22 + Yor + 44 + XX or Sperm Egg 44 + XY Zygotes (offspring) (a) The X-Y system 22 + XX 22 + X (b) The X-0 system 76 + ZW 76 + ZZ (c) The Z-W system 32 (Diploid) 16 (Haploid) (d) The haplo-diploid system
  • 23. Fig. 15-6a (a) The X-Y system 44 + XY 44 + XX Parents 44 + XY 44 + XX 22 + X 22 + X 22 + Yor or Sperm Egg + Zygotes (offspring)
  • 24. Fig. 15-6b (b) The X-0 system 22 + XX 22 + X
  • 25. Fig. 15-6c (c) The Z-W system 76 + ZW 76 + ZZ
  • 26. Fig. 15-6d (d) The haplo-diploid system 32 (Diploid) 16 (Haploid)
  • 27. Inheritance of Sex-Linked Genes • The sex chromosomes have genes for many characters unrelated to sex • A gene located on either sex chromosome is called a sex-linked gene • In humans, sex-linked usually refers to a gene on the larger X chromosome Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 28. • Sex-linked genes follow specific patterns of inheritance • For a recessive sex-linked trait to be expressed – A female needs two copies of the allele – A male needs only one copy of the allele • Sex-linked recessive disorders are much more common in males than in females Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 29. Fig. 15-7 (a) (b) (c) XN XN Xn Y XN Xn   XN Y XN Xn  Xn Y YXn SpermYXN SpermYXn Sperm XN Xn Eggs XN XN XN Xn XN Y XN Y Eggs XN Xn XN XN Xn XN XN Y Xn Y Eggs XN Xn XN Xn Xn Xn XN Y Xn Y
  • 30. • Some disorders caused by recessive alleles on the X chromosome in humans: – Color blindness – Duchenne muscular dystrophy – Hemophilia Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 31. X Inactivation in Female Mammals • In mammalian females, one of the two X chromosomes in each cell is randomly inactivated during embryonic development • The inactive X condenses into a Barr body • If a female is heterozygous for a particular gene located on the X chromosome, she will be a mosaic for that character Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 32. Fig. 15-8 X chromosomes Early embryo: Allele for orange fur Allele for black fur Cell division and X chromosome inactivationTwo cell populations in adult cat: Active X Active X Inactive X Black fur Orange fur
  • 33. • Each chromosome has hundreds or thousands of genes • Genes located on the same chromosome that tend to be inherited together are called linked genes Concept 15.3: Linked genes tend to be inherited together because they are located near each other on the same chromosome Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 34. How Linkage Affects Inheritance • Morgan did other experiments with fruit flies to see how linkage affects inheritance of two characters • Morgan crossed flies that differed in traits of body color and wing size Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 35. Fig. 15-UN1 b+ vg+ Parents in testcross Most offspring b+ vg+ b vg b vg b vg b vg b vg b vg  or
  • 36. Fig. 15-9-1 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vgb+ b+ vg+ vg+
  • 37. Fig. 15-9-2 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg Double mutant TESTCROSS  b+ b+ vg+ vg+ F1 dihybrid (wild type) b+ b vg+ vg
  • 38. Fig. 15-9-3 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg Double mutant TESTCROSS  b+ b+ vg+ vg+ F1 dihybrid (wild type) b+ b vg+ vg Testcross offspring Eggs b+ vg+ b vg b+ vg b vg+ Black- normal Gray- vestigial Black- vestigial Wild type (gray-normal) b vg Sperm b+ b vg+ vg b b vg vg b+ b vg vgb b vg+ vg
  • 39. Fig. 15-9-4 EXPERIMENT P Generation (homozygous) RESULTS Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg Double mutant TESTCROSS  b+ b+ vg+ vg+ F1 dihybrid (wild type) b+ b vg+ vg Testcross offspring Eggs b+ vg+ b vg b+ vg b vg+ Black- normal Gray- vestigial Black- vestigial Wild type (gray-normal) b vg Sperm b+ b vg+ vg b b vg vg b+ b vg vgb b vg+ vg PREDICTED RATIOS If genes are located on different chromosomes: If genes are located on the same chromosome and parental alleles are always inherited together: 1 1 1 1 1 1 0 0 965 944 206 185 : : : : : : : : :
  • 40. • Morgan found that body color and wing size are usually inherited together in specific combinations (parental phenotypes) • He noted that these genes do not assort independently, and reasoned that they were on the same chromosome Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 41. • However, nonparental phenotypes were also produced • Understanding this result involves exploring genetic recombination, the production of offspring with combinations of traits differing from either parent Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 42. Genetic Recombination and Linkage • The genetic findings of Mendel and Morgan relate to the chromosomal basis of recombination Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 43. Recombination of Unlinked Genes: Independent Assortment of Chromosomes • Mendel observed that combinations of traits in some offspring differ from either parent • Offspring with a phenotype matching one of the parental phenotypes are called parental types • Offspring with nonparental phenotypes (new combinations of traits) are called recombinant types, or recombinants • A 50% frequency of recombination is observed for any two genes on different chromosomes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 44. Fig. 15-UN2 YyRr Gametes from green- wrinkled homozygous recessive parent (yyrr) Gametes from yellow-round heterozygous parent (YyRr) Parental- type offspring Recombinant offspring yr yyrr Yyrr yyRr YR yr Yr yR
  • 45. Recombination of Linked Genes: Crossing Over • Morgan discovered that genes can be linked, but the linkage was incomplete, as evident from recombinant phenotypes • Morgan proposed that some process must sometimes break the physical connection between genes on the same chromosome • That mechanism was the crossing over of homologous chromosomes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings Animation: Crossing Over
  • 46. Fig. 15-10 Testcross parents Replication of chromo- somes Gray body, normal wings (F1 dihybrid) Black body, vestigial wings (double mutant) Replication of chromo- somes b+ vg+ b+ vg+ b+ vg+ b vg b vg b vg b vg b vg b vg b vg b vg b vg b+ vg+ b+ vg b vg+ b vg Recombinant chromosomes Meiosis I and II Meiosis I Meiosis II b vg+b+ vgb vgb+ vg+ Eggs Testcross offspring 965 Wild type (gray-normal) 944 Black- vestigial 206 Gray- vestigial 185 Black- normal b+ vg+ b vg b vg b vg b+ vg b vg b vg b vg+ Sperm b vg Parental-type offspring Recombinant offspring Recombination frequency = 391 recombinants 2,300 total offspring  100 = 17%
  • 47. Fig. 15-10a Testcross parents Replication of chromo- somes Gray body, normal wings (F1 dihybrid) Black body, vestigial wings (double mutant) Replication of chromo- somes b+ vg+ b+ vg+ b+ vg+ b vg b vg b vg b vg b vg b vg b vg b vg b vg b+ vg+ b+ vg b vg+ b vg Recombinant chromosomes Meiosis I and II Meiosis I Meiosis II Eggs Sperm b+ vg+ b vg b+ vg b vgb vg+
  • 48. Fig. 15-10b Testcross offspring 965 Wild type (gray-normal) 944 Black- vestigial 206 Gray- vestigial 185 Black- normal b+ vg+ b vg b vg b vg b+ vg b vg b vg b+ vg+ Spermb vg Parental-type offspring Recombinant offspring Recombination frequency = 391 recombinants 2,300 total offspring  100 = 17% b vg b+ vg b vg+ b vg+ Eggs Recombinant chromosomes
  • 49. Mapping the Distance Between Genes Using Recombination Data: Scientific Inquiry • Alfred Sturtevant, one of Morgan’s students, constructed a genetic map, an ordered list of the genetic loci along a particular chromosome • Sturtevant predicted that the farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 50. • A linkage map is a genetic map of a chromosome based on recombination frequencies • Distances between genes can be expressed as map units; one map unit, or centimorgan, represents a 1% recombination frequency • Map units indicate relative distance and order, not precise locations of genes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 52. • Genes that are far apart on the same chromosome can have a recombination frequency near 50% • Such genes are physically linked, but genetically unlinked, and behave as if found on different chromosomes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 53. • Sturtevant used recombination frequencies to make linkage maps of fruit fly genes • Using methods like chromosomal banding, geneticists can develop cytogenetic maps of chromosomes • Cytogenetic maps indicate the positions of genes with respect to chromosomal features Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 55. Concept 15.4: Alterations of chromosome number or structure cause some genetic disorders • Large-scale chromosomal alterations often lead to spontaneous abortions (miscarriages) or cause a variety of developmental disorders Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 56. Abnormal Chromosome Number • In nondisjunction, pairs of homologous chromosomes do not separate normally during meiosis • As a result, one gamete receives two of the same type of chromosome, and another gamete receives no copy Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 57. Fig. 15-13-1 Meiosis I (a) Nondisjunction of homologous chromosomes in meiosis I (b) Nondisjunction of sister chromatids in meiosis II Nondisjunction
  • 58. Fig. 15-13-2 Meiosis I Nondisjunction (a) Nondisjunction of homologous chromosomes in meiosis I (b) Nondisjunction of sister chromatids in meiosis II Meiosis II Nondisjunction
  • 59. Fig. 15-13-3 Meiosis I Nondisjunction (a) Nondisjunction of homologous chromosomes in meiosis I (b) Nondisjunction of sister chromatids in meiosis II Meiosis II Nondisjunction Gametes Number of chromosomes n + 1 n + 1 n + 1n – 1 n – 1 n – 1 n n
  • 60. • Aneuploidy results from the fertilization of gametes in which nondisjunction occurred • Offspring with this condition have an abnormal number of a particular chromosome Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 61. • A monosomic zygote has only one copy of a particular chromosome • A trisomic zygote has three copies of a particular chromosome Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 62. • Polyploidy is a condition in which an organism has more than two complete sets of chromosomes – Triploidy (3n) is three sets of chromosomes – Tetraploidy (4n) is four sets of chromosomes • Polyploidy is common in plants, but not animals • Polyploids are more normal in appearance than aneuploids Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 64. Alterations of Chromosome Structure • Breakage of a chromosome can lead to four types of changes in chromosome structure: – Deletion removes a chromosomal segment – Duplication repeats a segment – Inversion reverses a segment within a chromosome – Translocation moves a segment from one chromosome to another Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 65. Fig. 15-15 Deletion A B C D E F G H A B C E F G H (a) (b) (c) (d) Duplication Inversion Reciprocal translocation A B C D E F G H A B C D E F G H A B C D E F G H A B C B C D E F G H A D C B E F G H M N O C D E F G H M N O P Q R A B P Q R
  • 66. Human Disorders Due to Chromosomal Alterations • Alterations of chromosome number and structure are associated with some serious disorders • Some types of aneuploidy appear to upset the genetic balance less than others, resulting in individuals surviving to birth and beyond • These surviving individuals have a set of symptoms, or syndrome, characteristic of the type of aneuploidy Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 67. Down Syndrome (Trisomy 21) • Down syndrome is an aneuploid condition that results from three copies of chromosome 21 • It affects about one out of every 700 children born in the United States • The frequency of Down syndrome increases with the age of the mother, a correlation that has not been explained Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 71. Aneuploidy of Sex Chromosomes • Nondisjunction of sex chromosomes produces a variety of aneuploid conditions • Klinefelter syndrome is the result of an extra chromosome in a male, producing XXY individuals • Monosomy X, called Turner syndrome, produces X0 females, who are sterile; it is the only known viable monosomy in humans Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 72. Disorders Caused by Structurally Altered Chromosomes • The syndrome cri du chat (“cry of the cat”), results from a specific deletion in chromosome 5 • A child born with this syndrome is mentally retarded and has a catlike cry; individuals usually die in infancy or early childhood • Certain cancers, including chronic myelogenous leukemia (CML), are caused by translocations of chromosomes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 73. Fig. 15-17 Normal chromosome 9 Normal chromosome 22 Reciprocal translocation Translocated chromosome 9 Translocated chromosome 22 (Philadelphia chromosome)
  • 74. Concept 15.5: Some inheritance patterns are exceptions to the standard chromosome theory • There are two normal exceptions to Mendelian genetics • One exception involves genes located in the nucleus, and the other exception involves genes located outside the nucleus Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 75. Genomic Imprinting • For a few mammalian traits, the phenotype depends on which parent passed along the alleles for those traits • Such variation in phenotype is called genomic imprinting • Genomic imprinting involves the silencing of certain genes that are “stamped” with an imprint during gamete production Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 76. Fig. 15-18 Normal Igf2 allele is expressed Paternal chromosome Maternal chromosome Normal Igf2 allele is not expressed Mutant Igf2 allele inherited from mother (a) Homozygote Wild-type mouse (normal size) Mutant Igf2 allele inherited from father Normal size mouse (wild type) Dwarf mouse (mutant) Normal Igf2 allele is expressed Mutant Igf2 allele is expressed Mutant Igf2 allele is not expressed Normal Igf2 allele is not expressed (b) Heterozygotes
  • 77. Fig. 15-18a Normal Igf2 allele is expressed Paternal chromosome Maternal chromosome (a) Homozygote Wild-type mouse (normal size) Normal Igf2 allele is not expressed
  • 78. Fig. 15-18b Mutant Igf2 allele inherited from mother Mutant Igf2 allele inherited from father Normal size mouse (wild type) Dwarf mouse (mutant) Normal Igf2 allele is expressed Mutant Igf2 allele is expressed Mutant Igf2 allele is not expressed Normal Igf2 allele is not expressed (b) Heterozygotes
  • 79. • It appears that imprinting is the result of the methylation (addition of –CH3) of DNA • Genomic imprinting is thought to affect only a small fraction of mammalian genes • Most imprinted genes are critical for embryonic development Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 81. Inheritance of Organelle Genes • Extranuclear genes (or cytoplasmic genes) are genes found in organelles in the cytoplasm • Mitochondria, chloroplasts, and other plant plastids carry small circular DNA molecules • Extranuclear genes are inherited maternally because the zygote’s cytoplasm comes from the egg • The first evidence of extranuclear genes came from studies on the inheritance of yellow or white patches on leaves of an otherwise green plant Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 83. • Some defects in mitochondrial genes prevent cells from making enough ATP and result in diseases that affect the muscular and nervous systems – For example, mitochondrial myopathy and Leber’s hereditary optic neuropathy Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 84. Fig. 15-UN4 EggSperm P generation gametes C B AD E F D F E A B C e d f c ba d f e c b a This F1 cell has 2n = 6 chromosomes and is heterozygous for all six genes shown (AaBbCcDdEeFf). Red = maternal; blue = paternal. + Each chromosome has hundreds or thousands of genes. Four (A, B, C, F) are shown on this one. The alleles of unlinked genes are either on separate chromosomes (such as d and e) or so far apart on the same chromosome (c and f) that they assort independently. Genes on the same chromo- some whose alleles are so close together that they do not assort independently (such as a, b, and c) are said to be linked.
  • 90. You should now be able to: 1. Explain the chromosomal theory of inheritance and its discovery 2. Explain why sex-linked diseases are more common in human males than females 3. Distinguish between sex-linked genes and linked genes 4. Explain how meiosis accounts for recombinant phenotypes 5. Explain how linkage maps are constructed Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
  • 91. 6. Explain how nondisjunction can lead to aneuploidy 7. Define trisomy, triploidy, and polyploidy 8. Distinguish among deletions, duplications, inversions, and translocations 9. Explain genomic imprinting 10.Explain why extranuclear genes are not inherited in a Mendelian fashion Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings