Biology Biology: The Chromosomal Basis of Inheritance

CAMPBELL
Locating Genes Along Chromosomes

BIOLOGY TENTH
EDITION
Reece • Urry • Cain • Wasserman • Minorsky • Jackson

§  Mendel’s “hereditary factors” were purely abstract
when first proposed
15 §  Today we can show that the factors—genes—are

located on chromosomes
The §  The location of a particular gene can be seen by
Chromosomal tagging isolated chromosomes with a fluorescent
Basis of dye that highlights the gene
Inheritance
Lecture Presentation by
Nicole Tunbridge and
Kathleen Fitzpatrick
© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.
Figure 15.2
P Generation Yellow-round Green-wrinkled
seeds seeds (yyrr)
Y (YYRR) y
r
R R r
Y y
Meiosis
Fertilization
§  Cytologists worked out the process of mitosis in R Y y r

Gametes
1875, using improved techniques of microscopy F1 Generation

R R
All F1 plants produce
yellow-round seeds (YyRr).
y y
r r
§  Biologists began to see parallels between the

Y Y
LAW OF Meiosis LAW OF INDEPENDENT

SEGREGATION R r r R ASSORTMENT Alleles of
behavior of Mendel’s proposed hereditary factors The two alleles for each
gene separate. Y y
Metaphase
I Y y
genes on nonhomologous
chromosomes assort
independently.
and chromosomes 1
R r r R
1
Anaphase I
Y y Y y
§  Around 1902, Sutton and Boveri and others R r Metaphase r R
independently noted the parallels and the 2

Y y
II
Y y
2
chromosome theory of inheritance began Y Y y

y
r
Y Y
y y
R
to form
R r r r R R
1 1 1
1
4 YR 4 yr 4 Yr 4 yR
F2 Generation An F1 × F1 cross-fertilization 3 Fertilization results

3 Fertilization in the 9:3:3:1
recombines the phenotypic ratio in
9 :3 :3 :1
R and r alleles at random. the F2 generation.
© 2014 Pearson Education, Inc.

Concept 15.1: Morgan showed that Mendelian Morgan’s Choice of Experimental Organism
inheritance has its physical basis in the
behavior of chromosomes: Scientific inquiry §  For his work, Morgan chose to study Drosophila
§  The first solid evidence associating a specific gene melanogaster, a common species of fruit fly
with a specific chromosome came in the early 20th
century from the work of Thomas Hunt Morgan §  Several characteristics make fruit flies a
convenient organism for genetic studies
§  These early experiments provided convincing
§  They produce many offspring
evidence that the chromosomes are the location
of Mendel’s heritable factors §  A generation can be bred every two weeks
§  They have only four pairs of chromosomes
1
Figure 15.3
§  Morgan noted wild type, or normal, phenotypes

that were common in the fly populations
§  Traits alternative to the wild type are called mutant
phenotypes

Figure 15.4
Correlating Behavior of a Gene’s Alleles with

Behavior of a Chromosome Pair
Experiment Conclusion
§  In one experiment, Morgan mated male flies with P P X
w+
X
w
Generation Generation
white eyes (mutant) with female flies with red eyes
X Y
w+
F1 All offspring
(wild type) Generation had red eyes.
w
Sperm
Results Eggs
§  The F1 generation all had red eyes F2
F1 w+
w+ w+
Generation w
Generation
§  The F2 generation showed a 3:1 red to white eye
w+
ratio, but only males had white eyes Eggs
Sperm
w+ w+
w+
F2
§  Morgan determined that the white-eyed mutant Generation w+
w w
allele must be located on the X chromosome w
w+
§  Morgan’s finding supported the chromosome

theory of inheritance
Concept 15.2: Sex-linked genes exhibit unique The Chromosomal Basis of Sex
patterns of inheritance
§  Morgan’s discovery of a trait that correlated with §  In humans and other mammals, there are two
the sex of flies was key to the development of the varieties of sex chromosomes: a larger X
chromosome theory of inheritance chromosome and a smaller Y chromosome
§  In humans and some other animals, there is a §  A person with two X chromosomes develops as a
chromosomal basis of sex determination female, while a male develops from a zygote with
one X and one Y
§  Only the ends of the Y chromosome have regions

that are homologous with corresponding regions
of the X chromosome
2
Figure 15.5 Figure 15.6
44 + 44 +
XY
Parents XX
22 + 22 +
X or 22
Y
+
X
X Sperm Egg
76 + 76 +
44 + 44 +
XX or XY
ZW ZZ
Y
Zygotes (offspring)
(a) The X-Y system (c) The Z-W system
32 16
22 + 22 + (Diploid) (Haploid)
XX X
(b) The X-0 system (d) The haplo-diploid system
§  Short segments at the ends of the Y chromosomes §  A gene that is located on either sex chromosome
are homologous with the X, allowing the two to is called a sex-linked gene
behave like homologues during meiosis in males
§  Genes on the Y chromosome are called Y-linked
§  A gene on the Y chromosome called SRY (sex- genes; there are few of these
determining region on the Y) is responsible for
development of the testes in an embryo §  Genes on the X chromosome are called X-linked
genes
Inheritance of X-Linked Genes
§  X chromosomes have genes for many characters §  X-linked genes follow specific patterns of
unrelated to sex, whereas most Y-linked genes are inheritance
related to sex determination
§  For a recessive X-linked trait to be expressed
§  A female needs two copies of the allele
(homozygous)
§  A male needs only one copy of the allele

(hemizygous)
§  X-linked recessive disorders are much more

common in males than in females
3
Figure 15.7
XNXN XnY
Xn Y Sperm §  Some disorders caused by recessive alleles on the

Eggs XN XNXn XNY X chromosome in humans
XN XNXn XNY §  Color blindness (mostly X-linked)
(a)
§  Duchenne muscular dystrophy
XNXn XNY XNXn XnY §  Hemophilia
XN Y Sperm Xn Y Sperm
Eggs XN XNXN XNY Eggs XN XNXn XNY
Xn XNXn XnY Xn XnXn XnY
(b) (c)
Figure 15.8
X chromosomes
X Inactivation in Female Mammals Allele for
orange fur
Early embryo:
Allele for
§  In mammalian females, one of the two X black fur
chromosomes in each cell is randomly inactivated Cell division and

during embryonic development X chromosome
Two cell inactivation
populations
§  The inactive X condenses into a Barr body in adult cat: Active X
Inactive
Active X
X
§  If a female is heterozygous for a particular gene Black fur Orange fur
located on the X chromosome, she will be a
mosaic for that character

Concept 15.3: Linked genes tend to be inherited How Linkage Affects Inheritance
together because they are located near each
other on the same chromosome §  Morgan did other experiments with fruit flies to see
§  Each chromosome has hundreds or thousands of how linkage affects inheritance of two characters
genes (except the Y chromosome)
§  Morgan crossed flies that differed in traits of body
§  Genes located on the same chromosome that tend color and wing size
to be inherited together are called linked genes
4
Figure 15.9
Experiment
P Generation
(homozygous)
Wild type (gray Double mutant
body, normal wings) (black body, vestigial wings)
b+ b+ vg+ vg+ b b vg vg §  Morgan found that body color and wing size are
F1 dihybrid testcross
Wild-type F1 dihybrid
Homozygous usually inherited together in specific combinations
recessive (black
(gray body, normal wings) body, vestigial wings) (parental phenotypes)
b+ b vg+ vg b b vg vg
Testcross
offspring Eggs b+ vg+ b vg b+ vg b vg+
§  He noted that these genes do not assort
Wild type Black- Gray- Black-
independently, and reasoned that they were on the
b vg
(gray-normal) vestigial vestigial normal
same chromosome
Sperm
b+ b vg+ vg b b vg vg b+ b vg vg b b vg+ vg
PREDICTED RATIOS
Genes on different
chromosomes: 1 : 1 : 1 : 1
Genes on the same
chromosome: 1 : 1 : 0 : 0
Results 965 : 944 : 206 : 185
Figure 15.UN01
§  However, nonparental phenotypes were also

F1 dihybrid female b+ vg+ b vg
produced
and homozygous
recessive male b vg b vg §  Understanding this result involves exploring
in testcross
genetic recombination, the production of
offspring with combinations of traits differing from
b+ vg+ b vg either parent
Most offspring or
b vg b vg

Genetic Recombination and Linkage Recombination of Unlinked Genes: Independent

Assortment of Chromosomes
§  The genetic findings of Mendel and Morgan relate §  Offspring with a phenotype matching one of the
to the chromosomal basis of recombination 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
5
Figure 15.UN02
Recombination of Linked Genes: Crossing Over

Gametes from yellow-round
dihybrid parent (YyRr) §  Morgan discovered that genes can be linked, but
the linkage was incomplete, because some
YR yr Yr yR recombinant phenotypes were observed
Gametes from
testcross §  He proposed that some process must occasionally
homozygous yr break the physical connection between genes on
recessive the same chromosome
parent (yyrr) YyRr yyrr Yyrr yyRr
§  That mechanism was the crossing over of
Parental- Recombinant homologous chromosomes
type offspring
offspring

Figure 15.10 P generation Wild type (gray body, Double mutant (black body,
(homozygous) normal wings) vestigial wings)
b+ vg+ b vg Animation: Crossing Over

b+ vg+ b vg
F1 dihybrid Wild-type F1 Homozygous recessive

testcross dihybrid (gray body, (black body,
normal wings) vestigial wings)
b+ vg+ b vg
b vg b vg
Replication of Replication of
chromosomes chromosomes
b+ vg+ b vg
b+ vg+ b vg
b vg b vg
b vg b vg
Meiosis I

b+ vg+
Meiosis I and II

b+vg
b vg+
b vg
Meiosis II
Recombinant
chromosomes
b+ vg+ b vg b+ vg b vg+
Eggs
Testcross 965 944 206 185

Wild type Black- Gray- Black-
offspring normal
(gray-normal) vestigial vestigial b vg
b+ vg+ b vg b+ vg b vg+
b vg b vg b vg b vg Sperm
Parental-type Recombinant
offspring offspring
Recombination 391 recombinants
frequency = × 100 = 17%
2,300 total offspring
New Combinations of Alleles: Variation for Mapping the Distance Between Genes Using
Natural Selection Recombination Data: Scientific Inquiry
§  Recombinant chromosomes bring alleles together §  Alfred Sturtevant, one of Morgan’s students,
in new combinations in gametes constructed a genetic map, an ordered list of
the genetic loci along a particular chromosome
§  Random fertilization increases even further the
number of variant combinations that can be §  Sturtevant predicted that the farther apart two
produced genes are, the higher the probability that a
crossover will occur between them and therefore
§  This abundance of genetic variation is the raw the higher the recombination frequency
material upon which natural selection works
6
Figure 15.11
§  A linkage map is a genetic map of a chromosome Results

based on recombination frequencies Recombination
frequencies
§  Distances between genes can be expressed as
map units; one map unit, or centimorgan, 9% 9.5%
represents a 1% recombination frequency Chromosome
17%
§  Map units indicate relative distance and order,
not precise locations of genes
b cn vg

§  Genes that are far apart on the same chromosome §  Sturtevant used recombination frequencies to
can have a recombination frequency near 50% make linkage maps of fruit fly genes
§  Such genes are physically linked, but genetically §  He and his colleagues found that the genes
unlinked, and behave as if found on different clustered into four groups of linked genes (linkage
chromosomes groups)
§  The linkage maps, combined with the fact that
there are four chromosomes in Drosophila,
provided additional evidence that genes are
located on chromosomes
Figure 15.12
Mutant phenotypes
Concept 15.4: Alterations of chromosome
Short Maroon Black Cinnabar Vestigial Down- Brown
aristae
number or structure cause some genetic
eyes body eyes wings curved eyes
wings disorders
§  Large-scale chromosomal alterations in humans
and other mammals often lead to spontaneous
0 16.5 48.5 57.5 67.0 75.5 104.5 abortions (miscarriages) or cause a variety of
developmental disorders
§  Plants tolerate such genetic changes better than

animals do
Long Red Gray Red Normal Normal Red

aristae eyes body eyes wings wings eyes
(appendages
on head) Wild-type phenotypes
7
Figure 15.13-1
Meiosis I

Abnormal Chromosome Number
§  In nondisjunction, pairs of homologous Nondisjunction
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

Figure 15.13-2 Figure 15.13-3

Meiosis I
Meiosis I

Nondisjunction Nondisjunction
Meiosis II
Meiosis II

Non- Non-
disjunction disjunction
Gametes
n+1 n+1 n−1 n−1 n+1 n−1 n n

Number of chromosomes
(a) Nondisjunction of homo- (b) Nondisjunction of sister
logous chromosomes in chromatids in meiosis II

meiosis I

Video: Nondisjunction in Mitosis
§  Aneuploidy results from the fertilization of

gametes in which nondisjunction occurred
§  Offspring with this condition have an abnormal
number of a particular chromosome
8
§  A monosomic zygote has only one copy of a §  Polyploidy is a condition in which an organism
particular chromosome has more than two complete sets of chromosomes
§  A trisomic zygote has three copies of a particular §  Triploidy (3n) is three sets of chromosomes
chromosome
§  Tetraploidy (4n) is four sets of chromosomes
§  Polyploidy is common in plants, but not animals
§  Polyploids are more normal in appearance than

aneuploids
Figure 15.14
Alterations of Chromosome Structure

(a) Deletion (c) Inversion
§  Breakage of a chromosome can lead to four types A B C D E F G H A B C D E F G H
of changes in chromosome structure A deletion removes a An inversion reverses a
chromosomal segment. segment within a chromosome.
§  Deletion removes a chromosomal segment A B C E F G H
A D C B E F G H
§  Duplication repeats a segment (b) Duplication (d) Translocation

A B C D E F G H A B C D E F G H M N O P Q R
§  Inversion reverses orientation of a segment within A duplication repeats
a chromosome a segment. A translocation moves a
segment from one chromosome
A B C B C D E F G H
to a nonhomologous
§  Translocation moves a segment from one chromosome.
chromosome to another M N O C D E F G H A B P Q R

Human Disorders Due to Chromosomal Down Syndrome (Trisomy 21)

Alterations
§  Alterations of chromosome number and structure §  Down syndrome is an aneuploid condition that
are associated with some serious disorders results from three copies of chromosome 21
§  Some types of aneuploidy appear to upset the §  It affects about one out of every 700 children born
genetic balance less than others, resulting in in the United States
individuals surviving to birth and beyond
§  The frequency of Down syndrome increases with
§  These surviving individuals have a set of the age of the mother, a correlation that has not
symptoms, or syndrome, characteristic of the type been explained
of aneuploidy
9
Figure 15.15
Aneuploidy of Sex Chromosomes
§  Nondisjunction of sex chromosomes produces a

variety of aneuploid conditions
§  XXX females are healthy, with no unusual physical
features
§  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

Figure 15.16
Disorders Caused by Structurally Altered

Chromosomes Normal chromosome 9
§  The syndrome cri du chat (“cry of the cat”), results
from a specific deletion in chromosome 5
Normal chromosome 22
§  A child born with this syndrome is severely
intellectually disabled and has a catlike cry;
Reciprocal translocation
individuals usually die in infancy or early childhood
§  Certain cancers, including chronic myelogenous
leukemia (CML), are caused by translocations Translocated chromosome 9
of chromosomes
Translocated chromosome 22
(Philadelphia chromosome)
Concept 15.5: Some inheritance patterns are Genomic Imprinting

exceptions to standard Mendelian inheritance
§  There are two normal exceptions to Mendelian §  For a few mammalian traits, the phenotype
genetics depends on which parent passed along the alleles
for those traits
§  One exception involves genes located in the
nucleus, and the other exception involves genes §  Such variation in phenotype is called genomic
located outside the nucleus imprinting
§  In both cases, the sex of the parent contributing an §  Genomic imprinting involves the silencing of
allele is a factor in the pattern of inheritance certain genes depending on which parent passes
them on
10
Figure 15.17
Normal Igf2 allele
is expressed.
Paternal
chromosome
Maternal
chromosome
Normal Igf2 allele
Normal-sized mouse §  It appears that imprinting is the result of the
(wild type)
is not expressed. methylation (addition of —CH3) of cysteine
(a) Homozygote nucleotides
Mutant Igf2 allele Mutant Igf2 allele
inherited from mother inherited from father §  Genomic imprinting is thought to affect only a
small fraction of mammalian genes
Normal-sized mouse (wild type) Dwarf mouse (mutant)
§  Most imprinted genes are critical for embryonic
Normal Igf2 allele Mutant Igf2 allele
is expressed. is expressed.
development
Mutant Igf2 allele Normal Igf2 allele

is not expressed. is not expressed.
(b) Heterozygotes
Figure 15.18
Inheritance of Organelle Genes
§  Extranuclear genes (or cytoplasmic genes) are

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
§  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
11

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CAMPBELL

Locating Genes Along Chromosomes

Reece • Urry • Cain • Wasserman • Minorsky • Jackson

15 § Today we can show that the factors—genes—are

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

§ Cytologists worked out the process of mitosis in R Y y r

1875, using improved techniques of microscopy F1 Generation

§ Biologists began to see parallels between the

LAW OF Meiosis LAW OF INDEPENDENT

§ Around 1902, Sutton and Boveri and others R r Metaphase r R

independently noted the parallels and the 2

chromosome theory of inheritance began Y Y y

F2 Generation An F1 × F1 cross-fertilization 3 Fertilization results

© 2014 Pearson Education, Inc.

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

§ Morgan noted wild type, or normal, phenotypes

© 2014 Pearson Education, Inc.

Correlating Behavior of a Gene’s Alleles with

§ Morgan’s finding supported the chromosome

§ Only the ends of the Y chromosome have regions

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

(b) The X-0 system (d) The haplo-diploid system

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

Inheritance of X-Linked Genes

§ A male needs only one copy of the allele

§ X-linked recessive disorders are much more

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

Xn Y Sperm § Some disorders caused by recessive alleles on the

Eggs XN XNXN XNY Eggs XN XNXn XNY

Xn XNXn XnY Xn XnXn XnY

chromosomes in each cell is randomly inactivated Cell division and

© 2014 Pearson Education, Inc.

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

§ However, nonparental phenotypes were also

© 2014 Pearson Education, Inc.

Genetic Recombination and Linkage Recombination of Unlinked Genes: Independent

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

Recombination of Linked Genes: Crossing Over

© 2014 Pearson Education, Inc.

b+ vg+ b vg Animation: Crossing Over

F1 dihybrid Wild-type F1 Homozygous recessive

Testcross 965 944 206 185

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

§ A linkage map is a genetic map of a chromosome Results

© 2014 Pearson Education, Inc.

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

§ Plants tolerate such genetic changes better than

Long Red Gray Red Normal Normal Red

§ In nondisjunction, pairs of homologous Nondisjunction

chromosomes do not separate normally during

© 2014 Pearson Education, Inc.

Figure 15.13-2 Figure 15.13-3

n+1 n+1 n−1 n−1 n+1 n−1 n n

Video: Nondisjunction in Mitosis

§ Aneuploidy results from the fertilization of

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

§ Polyploidy is common in plants, but not animals

§ Polyploids are more normal in appearance than

© 2014 Pearson Education, Inc. © 2014 Pearson Education, Inc.

Alterations of Chromosome Structure

§ Duplication repeats a segment (b) Duplication (d) Translocation

© 2014 Pearson Education, Inc.

15 §  Today we can show that the factors—genes—are

§  Cytologists worked out the process of mitosis in R Y y r

§  Biologists began to see parallels between the

§  Around 1902, Sutton and Boveri and others R r Metaphase r R

§  Morgan noted wild type, or normal, phenotypes

§  Morgan’s finding supported the chromosome

§  Only the ends of the Y chromosome have regions

§  A male needs only one copy of the allele

§  X-linked recessive disorders are much more

Xn Y Sperm §  Some disorders caused by recessive alleles on the

§  However, nonparental phenotypes were also

§  A linkage map is a genetic map of a chromosome Results

§  Plants tolerate such genetic changes better than

§  In nondisjunction, pairs of homologous Nondisjunction

§  Aneuploidy results from the fertilization of

§  Polyploidy is common in plants, but not animals

§  Polyploids are more normal in appearance than

§  Duplication repeats a segment (b) Duplication (d) Translocation

§  Nondisjunction of sex chromosomes produces a

§  Monosomy X, called Turner syndrome, produces

§  Extranuclear genes (or cytoplasmic genes) are

§  Some defects in mitochondrial genes prevent cells