BIO 201: General Biology

Rukayya Ado Bello

Department Of Biological Science
Capital City University Kano
Course outline
• Chromosomes
• Genes and their relationships and importance
• General reproduction
CHROMOSOMES
• In the nucleus of each cell, the DNA molecule is packaged into
thread-like structures called chromosomes.

• Each chromosome is made up of DNA tightly coiled many times

around proteins called histones that support its structure.

• Chromosomes were first described by Strasburger (1815), and the

term ‘chromosome’ was first used by Waldeyer in 1888.

• They appear as rod shaped dark stained bodies during the

metaphase stage of mitosis when cells are stained with a suitable
basic dye and viewed under a light microscope.
Structure of Chromosome

1. In eukaryotic cells, chromosomes are composed of single

molecule of DNA with many copies of five types of histones.
2. Histones are proteins molecules and are rich in lysine and
arginine residues, they are positively charged. Hence, they bind
tightly to the negatively-charged phosphates in the DNA
sequence.
3. A small number of non-histone proteins are also present, these
are mostly transcription factors.
4. During most of the cell’s life cycle, chromosomes are elongated
and cannot be observed under the microscope.
5. During the S phase of the mitotic cell cycle the chromosomes
are duplicated.
6. At the beginning of mitosis, the chromosomes are duplicated
and they begin to condense into short structures which can be
stained and observed easily under the light microscope.
7. These duplicated condensed chromosomes are known as dyads.
8. The duplicated chromosomes are held together at the region of
centromeres.
9. The centromeres in humans are made of about 1-10 million base
pairs of DNA.
10. The DNA of the centromere are mostly repetitive short
sequences of DNA, the sequences are repeated over and over in
tandem arrays.
11.The attached, duplicated chromosomes are commonly called
sister chromatids.
12. Kinetochores are the attachment point for spindle fibers which helps to pull
apart the sister chromatids as the mitosis process proceeds to anaphase stage.
The kinetochores are a complex of about 80 different proteins.
13. The shorter arm of the two arms of the chromosome extending from the
centromere is called the p arm and the longer arm is known the q arm.

Structurally, each chromosome is differentiated into three parts—

• Pellicle
• Matrix
• Chromonemata

Pellicle
• It is the outer envelope around the substance of chromosome.
• It is very thin and is formed of achromatic substances.

Matrix
• It is the ground substance of chromosome which contains the Chromonemata.
• It is also formed of non-genic materials.
Chromonemata
• Embedded in the matrix of each chromosome are two identical, spirally coiled
threads, the chromonemata.
• The two chromonemata are also tightly coiled together that they appear as
single thread of about 800A thickness.
• Each chromonemata consists of about 8 microfibrils, each of which is formed
of a double helix of DNA.

In mitotic metaphase chromosomes, the following structural feature (except

chromomere) can be seen under the light microscope:
(1) Chromatid,
(2) Chromonema,
(3) Chromomeres,
(4) Centromere,
(5) Secondary constriction or Nucleolar organizer,
(6) Telomere and
(7) Satellite.
Secondary Constriction or Nucleolar Organiser

• The chromosome besides having the primary constriction or the centromere

possesses secondary constriction at any point of the chromosome.
• Constant in their position and extent, these constrictions are useful in
identifying particular chromosomes in a set.
• The chromosome region distal to the secondary constriction i.e., the region
between the secondary constriction and the nearest telomere is known as
satellite.
• Therefore, chromosomes having secondary constrictions are called satellite
chromo-somes or sat-chromosomes.
• Nucleolus is always associated with the secondary constriction of sat-
chromosomes. Therefore, secondary constrictions are also called nucleolus
organiser region (NOR) and sat-chromosomes are often referred to as
nucleolus organiser chromosomes.
Telomeres
• These are specialized ends of a chromosome which exhibits physiological
differentiation and polarity.
• Each extremity of the chromosome due to its polarity prevents other
chromosomal segments to be fused with it. The chromosomal ends are known as
the telomeres.
• If a chromosome breaks, the broken ends can fuse with each other due to lack of
telomere.
 Types of Chromosomes
A.Autosomes and Sex Chromosomes
• Human chromosomes are of two types autosomes and sex
chromosomes.

• Genetic traits that are linked to the sex of the person are passed
on through the sex chromosomes.

• The rest of the genetic information is present in the autosomes.

• Humans have 23 pairs of chromosomes in their cells, of which 22

pairs are autosomes and one pair of sex chromosomes, making a
total of 46 chromosomes in each cell.
B. On the Basis of Number of Centromeres
• Monocentric with one centromere.
• Dicentric with two centromeres.
• Polycentric with more than two centromeres
• Acentric without centromere. Such chromosomes represent
freshly broken segments of chromosomes which do not survive
for long.
On the Basis of Location of Centromere
• Chromosomes are divided into two parts (p and q arms) with a
constriction point called a centromere in the middle.

• The centromere can be located in different positions and this

forms the basis for the four different classes of chromosome:

• Metacentric – centromere is in middle, meaning p and q arms

are of comparable length (e.g., chromosomes 1, 3, 16, 19, 20)

• Submetacentric – centromere off-centre, leading to shorter p

arm relative to q arm (e.g., chromosomes 2, 4 – 12, 17, 18, X)

• Acrocentric – centromere severely off-set from centre, leading

to much shorter p arm (e.g., chromosomes 13 – 15, 21, 22, Y)

• Telocentric – centromere found at end of chromosome,

meaning no p arm exists (chromosome not found in humans)
 Function and Significance of Chromosomes

• The number of the chromosomes is constant for a particular

species. Therefore, these are of great importance in the
determination of the phylogeny and taxonomy of the species.

• Genetic Code Storage: Chromosome contains the genetic

material that is required by the organism to develop and grow.
DNA molecules are made of chain of units called genes. Genes are
those sections of the DNA which code for specific proteins
required by the cell for its proper functioning.
• Sex Determination
• Humans have 23 pairs of chromosomes out of which one pair is the sex
chromosome.
• Females have two X chromosomes and males have one X and one Y
chromosome.
• The sex of the child is determined by the chromosome passed down by the
male.
• If X chromosome is passed out of XY chromosome, the child will be a female
and if a Y chromosome is passed, a male child develops.
• Control of Cell Division: Chromosomes check successful division
of cells during the process of mitosis. The chromosomes of the
parent cells ensure that the correct information is passed on to
the daughter cells required by the cell to grow and develop
correctly.

• Formation of Proteins and Storage: The chromosomes direct the

sequences of proteins formed in our body and also maintain the
order of DNA. The proteins are also stored in the coiled structure
of the chromosomes. These proteins bound to the DNA help in
proper packaging of the DNA.
Genes
The word ‘gene’ has two meanings:

1. The determinant of an observable trait or characteristic of an

organis
2. The DNA sequence that determines the chemical structure of a
specific polypeptide molecule or RNA molecule.

• Since the observable characteristics of organisms include the

chemical structures of their constituent molecules, these two
definitions merge at the molecular level.
Terminology:

1. Alleles or Allelomorphs : A pair of contrasting characters or related factors

controlling a
2. single trait. Exa. – Height – Tall (T) and Dwarf (t), Colour – Red (R) and White
(r).
3. Factor or Determiner : It is a functional unit of heredity present in the gametes
(gene) which
4. determines the character of the organism.
5. Gametes : Haploid sex cells formed by segregation of the organisms.
6. Parents : A diploid individual formed by the fusion of two gametes. Exa – TT,
Tt, tt.
7. Offsprings : These are individuals produced by the parents.
8. Phenotype : External appearance of an individual. Exa.- Tall, Dwarf, Red,
White.
9. Genotype : Genetic or internal constitution of an organism. Exa. – TT (Pure tall),
Tt (Hybrid
10. tall), tt (Pure white).
11. Homozygous : An organism with identical (similar) determiners or genes. Exa.-
TT, rr.
12. Heterozygous : An organism with dissimilar determiners or genes. Exa. – Tt, Rr.
13. Hybrid : A heterozygous individual formed by the parents having contrasting
characters.
14. Exa.- Tt – Hybrid Tall, Rr - Hybrid Red.
15. F-1generation or First filial generation : It is the first generation of hybrid
individuals obtained by crossing parents with contrasting characters.
16. F-2 generation or Second filial generation : It is the generation resulting by selfing
or self crossing of F-1 hybrids.
10. Inbreeding : It is crossing between closely related individuals.

11. Pure breed : A homozygous individual formed by the parents and with
identical characters and breed true to the species atleast three consecutive
generation. Exa. – TT- Pure Tall, RR- Pure Red, tt- Pure Dwarf, rr- Pure
White.

12. Dominant : The character or allele that expressed in F-1 generation is

called as Dominant. Exa. – TT, RR, Tt, Rr.

13. Recessive : The character or allele that suppressed in F-1 generation is

called as Recessive. Exa. – tt, rr
• The DNA making up each chromosome is usually coiled up tightly.
If we imagine it stretched out, it would look like beads on a string.

• Each of these beads is called a gene

• Each gene is a piece of genetic information
• Thousands of genes make up each chromosome

• Since the chromosomes come in pairs, there are two copies of the
genes.

• The exception to this rule applies to the genes carried on the sex
chromosomes: the X and Y.
• Since men have only one copy of the X chromosome, they have only
one copy of all the genes carried on the X chromosome
• Each gene has its own specific location on the chromosome and is a piece of the
genetic material that does one particular job.

• All of the 20,000 or so genes contain a different `packet’ of information necessary

for our bodies to grow and work.
• Our genes also contain the information for how we look: the colour of our eyes,
how tall we are, the shape of our nose, etc. The information is in the form of a
chemical (DNA) code.

• • The DNA code is made up of very long chains of four basic

• building blocks (nucleotide bases):

• Adenine (A) and Guanine(G), and

• Thymine (T) and Cytosine (C)
• In summary, genes can be defined as segments of DNA
that issue instructions to the cells by these chemically
coded ‘messages’ to make a product (protein) that the
cells can use.

• There may be hundreds, or even thousands, of three-

letter words in each gene message
 Monohybrid Cross
• A cross is made by considering only one contrasting character is
called as Monohybrid Cross.

• The phenotypic ratio obtained in F-2 generation is called as

Monohybrid Ratio, which is 3 : 1.

• A cross between two parents that differ by one pair of alleles is

called as Monohybrid cross. The phenotypic ratio obtained in F-2
generation is called as Monohybrid Ratio, which is 3 : 1.
Exa.– Pea plant :Pisum sativum – Length of stem.
Parent (P-1) Tall X Dwarf
Genotype: TT tt
Gamete: T t

F-1 Hybrid: Tt
Tall
Parent (P-2): Tall X Tall
Genotype: Tt Tt
Gamete: T t T t

F-2 Generation: Gametes T t

T TT Tt
Tall Tall

t Tt Tt
Tall Dwarf

Genotypic Ratio: 1 : 2 : 1
Phenotypic Ratio: 3 : 1
• Mendel crossed two pure breed pea plants, one with a Tall stem and the other with a
Dwarf or short stem.

• The F-1hybrids were all Tall plants, indicating that the Tall is dominant character as only
dominant character appears in F-1 generation.

• When F-1 plants (hybrids) were cross themselves, then in the F-2 generation Tall and
Dwarf pea plants appear in the ratio of 3 : 1.
 Dihybrid Cross:
A cross is made by considering two pairs contrasting characters, called as Dihybrid Cross.
The phenotypic ratio obtained in F-2 generation is called as Dihybrid Ratio,
which is 9 : 3 : 3 : 1.
Exa. – Pea plant:Pisum sativum – Seed – Colour and Shape

Parent (P-1): Yellow Round X Green Wrinkled

Genotype: YYRR yyrr
Gamete: YR yr
F-1 Hybrid: YyRr

Parent (P-2): Yellow Round X Yellow Round

Genotype: YyRr YyRr
Gamete: YR Yr yR yr YR Yr yR yr
F-2 Generation:
0/0 YR Yr yR yr
YR YYRR YYRr YyRR YyRr
Yellow Round Yellow Yellow Yellow
Round Round Round

Yr YYRr YYrr YyRr Yyrr

Yellow Round Yellow Yellow Yellow
Wrinkled Round Wrinkled
yR YyRR YyRr yyRR yyRr
Yellow Round Yellow Green Green
Round Round Round
yr YyRr Yyrr yyRr yyrr
Yellow Round Yellow Green Green
Wrinkled Round Wrinkled
Ratio: Yellow Round : Yellow Wrinkled : Green Round : Green Wrinkled
9 : 3 : 3 : 1
• Mendel crossed a pure breed of Yellow Round seed with another pure breed of Green
Wrinkled seed pea plants.

• The F-1 hybrids were all Yellow Round. This indicating that, Yellow and Round are
dominant characters as only Dominant character appears in F-1 generation.

• When F-1 plants (hybrids) were self crossed (inbreed), they gave Four types of plants in
F-2 generation as Yellow Round, Yellow Wrinkled, Green Round and Green Wrinkled in
the ratio of 9:3:3:1.

• Out of these four, two showed the same combination of characters as the parents and
the two new combinations were produced. The appearance of four different
phenotypes clearly indicates that the characters of colour of the seed and shape of the
seed segregate independently.
 Mendelian Laws
• The modern science of genetics starts with the experiments of the Australian monk
Gregor Johann Mendel, who was the first man to conduct decisive experiments in
heredity and to formulate the basic laws of genetics.

• Hence, he is called as the Father of Genetics.

Mendel concluded from his breeding experiments by deriving four laws known as Mendel’s
law of inheritance. These are,

1) Law of Dominance,
2) Law of segregation or Purity of gametes,
3) Law of Independent Assortment
4) Law of Recombination
 PRESENTATION
Power point presentation on
Group 1: Law of Dominance

Group 2:Law of segregation or Purity of gametes,

Group 3: Law of Independent Assortment

Group 4: Law of Recombination