The Chromosomal

Basis of
Inheritance
 Mendel’s “hereditary factors” were genes
 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
FIGURE 15.1
 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 can
account for Mendel’s laws of segregation and
independent assortment
P Generation Yellow-round Green-wrinkled
seeds (YYRR) seeds (yyrr)
Y ry

R R r
Y y

Meiosis

Fertilization
R Y y r
Gametes

All F1 plants produce

yellow-round seeds (YyRr).

F1 Generation
R R
y y
r r
Y Y
Meiosis
LAW OF SEGREGATION LAW OF INDEPENDENT
The two alleles for each r ASSORTMENT Alleles of genes
R r R
gene separate during on nonhomologous chromosomes
gamete formation. Metaphase I assort independently during
gamete formation.
Y y Y y

1 1
R r r R

Anaphase I
Y y Y y

R r r R

2 2
Y y Metaphase II Y y

Y y Y
Y y Y y y
Gametes
R R r r r r R R

1
/4 YR 1
/4 yr 1
/4 Yr 1
/4 yR

F2 Generation An F1  F1 cross-fertilization
3 Fertilization recombines 3 Fertilization results in the
the R and r alleles at 9:3:3:1 phenotypic ratio
random. 9 :3 :3 :1 in the F2 generation.
P Generation Yellow-round Green-wrinkled
seeds (YYRR) seeds (yyrr)
Y y
 r
R R r
Y y

Meiosis

Fertilization
R Y y r
Gametes
 All F1 plants produce
yellow-round seeds (YyRr).

F1 Generation
R R
y y
r r
Y Y
LAW OF INDEPENDENT
LAW OF SEGREGATION Meiosis
ASSORTMENT Alleles of
The two alleles for each R r r R genes on nonhomologous
gene separate during chromosomes assort
gamete formation. Metaphase I independently during gamete
Y y Y y formation.

1 1
R r r R

Anaphase I
Y y Y y

R r r R
Metaphase
2 II 2
Y y Y y

Y y Y
Y y Y y y
Gametes
R R r r r r R R

/4 YR
1
/4 yr
1 1
/4 Yr 1
/4 yR
LAW OF SEGREGATION LAW OF INDEPENDENT
ASSORTMENT

F2 Generation
An F1  F1 cross-fertilization

3 Fertilization 3 Fertilization results

recombines the in the 9:3:3:1
R and r alleles 9 :3 :3 :1 phenotypic ratio in
at random. the F2 generation.
  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

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 Several characteristics make fruit flies a
convenient organism for genetic studies
 They produce many offspring
 A generation can be bred every two weeks
 They have only four pairs of chromosomes

© 2011 Pearson Education, Inc.

 Morgan noted wild type, or normal,
phenotypes that were common in the fly
populations

Traits alternative to the wild type are called

mutant phenotypes

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  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

© 2011 Pearson Education, Inc.

EXPERIMENT
P
Generation

F1 All offspring
Generation had red eyes.

RESULTS
F2
Generation

CONCLUSION

P w w
X X
Generation X Y
w

w
Sperm
Eggs
F1 w
w w
Generation
w

w
Sperm
Eggs
w w
w
F2
w
Generation
w w
w
w
FIGURE 15.4A

EXPERIMENT
P
Generation

F1 All offspring
Generation had red eyes.

RESULTS
F2
Generation
CONCLUSION

P w w
X X
Generation X Y
w

w
Sperm
Eggs
F1 w w
w 

Generation w

w
Sperm
Eggs
w w
w
F2
Generation w
w w
w
w
  In humans and some other animals, there is a
chromosomal basis of sex determination

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 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 corresponding regions of the X
chromosome
 The SRY gene on the Y chromosome codes for a
protein that directs the development of male
anatomical features
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

© 2011 Pearson Education, Inc.

 44  44 
XY Parents XX

22  22  22 
X or Y X
Sperm Egg
44  44 
XX or XY

(a) The X-Y system Zygotes (offspring)

22  22 
XX X

(b) The X-0 system

76  76 
ZW ZZ

(c) The Z-W system

32 16
(Diploid) (Haploid)

(d) The haplo-diploid system

FIGURE 15.6A

44  44 
Parents
XY XX

22  22  22 
or X
X Y
Sperm Egg

44  44 
XX or XY
Zygotes (offspring)
(a) The X-Y system

22  22 
XX X

(b) The X-0 system

FIGURE 15.6B

76  76 
ZW ZZ

(c) The Z-W system

32 16
(Diploid) (Haploid)

(d) The haplo-diploid system

  A gene that is located on either sex chromosome
is called a sex-linked gene
 Genes on the Y chromosome are called Y-
linked genes; there are few of these
 Genes on the X chromosome are called X-
linked genes

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  X chromosomes have genes for many
characters unrelated to sex, whereas
the Y chromosome mainly encodes
genes related to sex determination

© 2011 Pearson Education, Inc.

  X-linked genes follow specific patterns of inheritance
 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

© 2011 Pearson Education, Inc.

FIGURE 15.7

XNXN XnY XNXn XNY XNXn XnY

Sperm Xn Y Sperm XN Y Sperm Xn Y

Eggs XN XNXn XNY Eggs XN XNXN XNY Eggs XN XNXn XNY

XN XNXn XNY Xn XNXn XnY Xn X nX n XnY

(a) (b) (c)

  Some disorders caused by recessive alleles
on the X chromosome in humans
 Color blindness (mostly X-linked)
 Duchenne muscular dystrophy
 Hemophilia

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  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

© 2011 Pearson Education, Inc.

FIGURE 15.8
X chromosomes
Allele for
orange fur
Early embryo:
Allele for
black fur

Cell division and

X chromosome
Two cell inactivation
populations
in adult cat: Active X
Inactive X
Active X

Black fur Orange fur

FIGURE 15.8A
  Each chromosome has hundreds or thousands of genes
(except the Y chromosome)
 Genes located on the same chromosome that tend to
be inherited together are called linked genes

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  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

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FIGURE 15.9-1
EXPERIMENT P Generation (homozygous)
Double mutant
Wild type (black body,
(gray body, normal wings) vestigial wings)

b b vg vg b b vg vg
FIGURE 15.9-2
EXPERIMENT P Generation (homozygous)
Double mutant
Wild type (black body,
(gray body, normal wings) vestigial wings)

b b vg vg b b vg vg

F1 dihybrid Double mutant

TESTCROSS
(wild type)

b b vg vg b b vg vg
FIGURE 15.9-3
EXPERIMENT P Generation (homozygous)
Double mutant
Wild type (black body,
(gray body, normal wings) vestigial wings)

b b vg vg b b vg vg

F1 dihybrid Double mutant

TESTCROSS
(wild type)

b b vg vg b b vg vg

Testcross
offspring Eggs b vg b vg b vg b vg

Wild type Black- Gray- Black-

(gray-normal) vestigial vestigial normal
b vg

Sperm

b b vg vg b b vg vg b b vg vg b b vg vg
FIGURE 15.9-4
EXPERIMENT P Generation (homozygous)
Double mutant
Wild type (black body,
(gray body, normal wings) vestigial wings)

b b vg vg b b vg vg

F1 dihybrid Double mutant

TESTCROSS
(wild type)

b b vg vg b b vg vg

Testcross
offspring Eggs b vg b vg b vg b vg

Wild type Black- Gray- Black-

(gray-normal) vestigial vestigial normal
b vg

Sperm

b b vg vg b b vg vg b b vg vg b b vg vg
PREDICTED RATIOS
If genes are located on different chromosomes: 1 : 1 : 1 : 1

If genes are located on the same chromosome and

parental alleles are always inherited together: 1 : 1 : 0 : 0

RESULTS 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

© 2011 Pearson Education, Inc.

FIGURE 15.UN01

b+ vg+ b vg
F1 dihybrid female
and homozygous
recessive male b vg b vg
in testcross

b+ vg+ b vg
Most offspring or
b vg b vg