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Biology Biology: The Chromosomal Basis of Inheritance
Biology Biology: The Chromosomal Basis of Inheritance
Figure 15.2
P Generation Yellow-round Green-wrinkled
seeds seeds (yyrr)
Y (YYRR) y
r
R R r
Y y
Meiosis
Fertilization
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
to form
R r r r R R
1 1 1
1
4 YR 4 yr 4 Yr 4 yR
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
Figure 15.4
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
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
§ 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
§ 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)
3
Figure 15.7
XNXN XnY
XN Y Sperm Xn Y Sperm
(b) (c)
© 2014 Pearson Education, Inc.
© 2014 Pearson Education, Inc.
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
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
© 2014 Pearson Education, Inc.
© 2014 Pearson Education, Inc.
Figure 15.UN01
5
Figure 15.UN02
Figure 15.10 P generation Wild type (gray body, Double mutant (black body,
(homozygous) normal wings) vestigial wings)
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
b vg b vg b vg b vg Sperm
Parental-type Recombinant
offspring offspring
Recombination 391 recombinants
frequency = × 100 = 17%
2,300 total offspring
© 2014 Pearson Education, Inc.
© 2014 Pearson Education, Inc.
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
§ 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
7
Figure 15.13-1
Meiosis I
Abnormal Chromosome Number
Nondisjunction Nondisjunction
Meiosis II
Meiosis II
Non- Non-
disjunction disjunction
Gametes
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
Figure 15.14
9
Figure 15.15
Figure 15.16
Translocated chromosome 22
(Philadelphia chromosome)
© 2014 Pearson Education, Inc.
© 2014 Pearson Education, Inc.
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
Figure 15.18
11