Chapter 12 Chromosomal Basis of Inheritance

Reference: Urry, L.A., Cain, M.L., Wasserman, S.A., Minorsky, P.V., Jackson, R.B. and
Reece, J.B. 2014.
Campbell Biology in Focus.
Overview
At present, the hereditary factors that Mendel was referring are called
___genes______ and they are located in the _____DNA______.
Genes
What is a gene?
-segments of a DNA on a chromosome that codes for a particular protein
DNA is contained in what structures in the eukaryotic cell? nucleus
Chromosomal Basis of Mendels laws
Chromosome theory of inheritance states that ________________.
1) Mendelian genes have specific loci (positions) on chromosomes
2) Chromosomes undergo segregation and independent assortment
What account for Mendels laws of segregation and independent assortment?
-The behavior of chromosomes during meiosis can account for Mendels laws of
segregation and independent assortment
Law of Segregation - homologous pairing and segregation of homologous
chromosomes during anaphase I leading to segregation of alleles into separate
gametes.
Law of Independent Assortment - the alleles of two or more different genes assort
independently of each other during meiosis such that random combination of the genes
from each pair winds up in the gametes. This occurs because there are various ways
the homologous are aligned in the metaphase plate during metaphase I
Chromosomal Basis of Sex
What are the two sex chromosomes? x, y

Chapter 12 Chromosomal Basis of Inheritance

What part of the Y chromosome is homologous to the X chromosome? The ends

What gene is responsible for the development of the testes? SRY gene
What is the chromosome combination (autosomes and sex chromosome/s) of males,
females, sperm cells and egg cells of humans? 44 + 2 xy or xx
Chromosomal Basis of Mendels laws
Sex-linked traits
Sex linked traits are governed by genes found on the ___sex______ chromosomes.
What are the two types of sex-linked traits and give examples of each type?
1. X-linked is recessive
Examples: color blindness, hemophilia, muscular dystrophy

2. Y-linked
Examples: hypertricosis

Transmission of X-Linked Genes

For a recessive X-linked trait to be expressed, females need __2_____ copies of the
allele (homozygous) and males need only ___1____ copy of the allele (homozygous)
Where are sex-linked recessive disorders much more common in males or in females?
Why?
b/c males only has one X chromosome.
The color-blind father will transmit the mutant allele to all his __daughters_________
but not to his ___sons________
Mother can pass the sex-linked alleles to both __son_________ and
_____daughter_______.

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Chapter 12 Chromosomal Basis of Inheritance

Practice problem
A man with hemophilia (a recessive, sex-linked condition) has a daughter of normal
phenotype. She marries a man who is normal for the trait. What is the probability that a
daughter of this mating will be a hemophiliac? 0% That a son will be a hemophiliac?
50%
XnY man
P1: normal daughter- XNXn

Red-green color blindness is caused by a sex-linked recessive allele. A color-blind man

marries a woman with normal vision whose father was color-blind. What is the
probability that they will have a color-blind daughter? What is the probability that their
first son will be color-blind?
50%

Transmission Y- Linked Traits

The man with hypertrichosis will transmit the trait to __son_____________.
What is hypertrichosis?
hair growth on ear
Sex influenced and Sex limited traits
What are sex-influenced traits?
Sex influenced traits are governed by genes found on the __autosomes_______ but
dominant in one sex and
recessive in the other
Examples:
pattern baldness in human
What are sex-limited traits?
Sex limited traits are governed by genes found on the __autosomes_______ but
expressed in one sex.
Examples: feathering in chickens, milk production by females
Sex-influenced trait : Pattern baldness
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Chapter 12 Chromosomal Basis of Inheritance

Pattern baldness in humans is caused by an __X_______ gene.

Heterozygotes: Allele B behaves as dominant in males, but recessive in females

Genotype

Phenotype in females

Phenotype in males

BB

bald

bald

Bb

non-bald

bald

bb

non-bald

non-bald

Peters father is heterozygous bald, his mother has normal hair but her mothers father
is homozygous bald. What is the chance that Peter will be bald?
Bb x Bb
75% bald

Sex-limited Trait
Feather plumage in chicken is caused by an ___autosomal____________ gene.
Hen-feathering is controlled by a __dominant________ allele expressed in both sexes
Cock-feathering is controlled by a ___recessive_______ allele only expressed in males
Genotype

Phenotype in females

Phenotype in males

hh

hen-feathered

cock-feathered

Hh

hen-feathered

hen-feathered

HH

hen-feathered

hen-feathered

X Inactivation in Female Mammals

What is X inactivation in female mammals? What is the reason for X-inactivation?
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Chapter 12 Chromosomal Basis of Inheritance

-In female mammals, most diploid cells have only one fully functional
X chromosome.
-One of the two X chromosomes in each cell is randomly inactivated
during embryonic development.
Reason: to compensate for the fact that females have a double
dosage of sex-linked genes than the males.
What is a Barr body? 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.
The gene for orange and black fur in cat is located in what sex chromosome? X
If B allele is for orange fur and b allele for black fur, what are the genders phenotypes of
the following:
XBY
XbY
XBXB
XbXb
XBXb

o
- b
-o
-b
-o or b if one is inactivated so o & b calico

Genetic disorders
Aneuploiday and polyploidy ( change in chromosome # due to n+1 or n-1) is
characterized by ___abnormal chromosome number______________________ due to
___nondisjuction___________.
ex: 2n=4 then n=2
n+1=3 ; n-1=2
What is nondisjunction?
Meiosis I- homologous chromosomes; sister chromosomes in Meiosis II fail to
separate
-one gamete receives two of the same type of chromosome, and another gamete
receive no copy.
Examples of Aneuploidy in Humans
What are some examples of aneuploidy in humans?
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Chapter 12 Chromosomal Basis of Inheritance

1. Down syndrome (trisomy 21)

2. Patau syndrome (trisomy 13)
3. Edward syndrome (trisomy 18)
Aneuploidy of Sex Chromosomes in Human
Describe Klinefelter syndrome.
It results due to an extra chromosome in a __male________ producing XXY individuals
Describe Turners syndrome or __monosomy X_________.
Turners syndrome produces __X0______ females, who are sterile
It is the only known viable monosomy in humans.
Polyploidy
Describe polyploidy? condition in which an organism has more than two complete sets
of chromosomes.
It is a condition in which an organism has more than ____two sets______________ of
chromosomes
What is:
Triploidy (3n) three sets of chromosomes
Tetraploidy (4n) four
Polyploidy is common in what organisms?
normal in plants but uncommon in animals
however they are in fish and salamanders
Alterations of Chromosome Structure
Breakage of a chromosome can lead to four types of changes in chromosome structure.
What are the four types of changes?
1. deletion
2.duplication
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Chapter 12 Chromosomal Basis of Inheritance

3. inversion
4. reciprocal translocation
What are some examples of human disorders due to alteration in chromosome
structure? Describe each example.
1. Cri du chat syndrome- deletion on chromosome 5, Symptoms are mental retardation,
a small head with unusual facial features and a cry that sounds like a mewing cat
2. Chronic myelogenous leukemia (CML)- Portion of chromosome 22 switches places
with a small fragment from chromosome 9
-Reciprocal translocation
Extranuclear genes
What are extranuclear genes? How are they inherited?
-Genes found in organelles in the cytoplasm such as mitochondria and plastids.
-Not inherited in mendelian fashion -> they are not distributed by segregating
chromosomes during meiosis.
-Inherited maternally because the zygotes cytoplasm comes from the egg.

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