BIO 101

a. GENES
b. Chromosomes

GENES

Genes are hereditary units or basic units of inheritance. Traits are controlled by genes.
The complete sets of genes within an organism’s genome are called its genotype. The
complete set of observable traits of the structure and behavior of an organism is called
a phenotype. A heritable trait passes from one generation to the next via DNA
(Deoxyribonucleic acid). DNA is a sequence of letters that spell out the genetic code.
They are in the chromosome and are responsible for transmission of characters from
parents to offspring. DNA organised into words and sentences are called genes. These
genes are usually in pairs.

Humans have approximately 20,000 genes and each one influences a part of
development. One copy is inherited from the mother and one from the father. A
change in the spelling of a DNA sequence or the gene is called mutation. Every
person’s DNA contains mutation which are harmless. Some mutations however cause
specific diseases.

CHROMOSOMES

Chromosomes are rod or thread-like bodies found in the nucleus of a cell. The
chromosomes house and contain the genes. They are carriers of genetic materials.
Chromosomes are stainable. Organisms inherit genetic materials from their parents in
the form of homologous chromosomes.

The specific location of a DNA sequence within chromosome is known as a locus.

When DNA sequence within a particular locus change or varies between individuals,
the different or alternate forms of this sequence (gene) are called alleles. The
chromosome number varies from species to species.

Table 1: CHROMOSOME NUMBER OF SOME ANIMALS AND PLANTS

Man (Homo sapiens) 46

Goat (Copra hircus) 60

Common rat (Rattus rattus) 42

Frog (Rana tigrina) 26

Dog (Canis familiaris) 78

1
 Chicken (Gallus domesticus) 78

Name of plants Diploid chromosome number (2n)

Banana (Musa paradisiaca) 22, 44, 55, 77, 88

Orange (Citrus sinensis) 18, 27, 36

Bread mold (mucor heimalis) 2

Tomato ( Solanum lycopersicum ) 24

Rice (Oryza sativa) 24

Papaya (Carica papaya) 18

Structure and Behavior of Chromosome

A chromosome can be considered a stainable threadlike nuclear component having special

organisation, individuality and function. The term is taken from Greek word chromasoma
which means “coloured bodies’’ (chroma = colour; soma = body). Chromosomes have
marked affinity for basic dyes because of which they are stained. This property is known as
chromaticity. Staining the cell with stains such as aceto orcein , aceto carmine shows that
chromosome are not visible in the interphase nucleus or metabolically active nucleus due to
their high water content, but can be easily seen during cell division. This is seen during both
mitosis and meiosis.

During cell division, the chromosome undergoes dehydration, spiralisation and condensation.
Therefore, they become progressively thicker and smaller. The stainability of chromosome
also increases. Hence the chromosome becomes readily observable under microscope.
Therefore, staining of chromosome is generally carried out to make them visible under light
microscope.

2
 Properties of Chromosome
 Chromosomes are capable of duplication and maintaining their morphological and
physiological properties through successive cell divisions.
 Chromosomes contain DNA (Deoxyribonucleic acids). This carries the genes and thus
plays a major role in heredity.
 During reproduction of organisms, they are passed on to the next generation through
the gametes.
 They play an important role in variation, mutation and evolution and in their control
of morphogenesis, multiplication and equilibrium of vital processes.

Types of Chromosomes

The term chromosome is mainly used to describe the chromosome of eukaryotic cell.
Most chromosomes found in these cells are called autosomes. This controls all somatic
characteristic of an organism. The symbol for autosomes is A. Somatic cells are cells
found in all the part of an organism i.e that make up the organism except the germ cells
i.e the egg cells.
Other types of chromosomes such as those for sex determination (x and y), B-
chromosomes, L-chromosomes, M-chromosomes, S-chromosomes, E-chromosomes are
called ALLOSOMES. This controls some specialized characteristics of an organism.
Autosomes are found in all parts of a eukaryotic organism while allosomes may or may
not be present in all organism.
CHROMOSOME NUMBER
Every cell of the body is provided with a packet of genetic material, the nucleus which
contains chromosomes.
The number of chromosomes is constant for a particular species. This is important in
determining the phylogeny and taxonomy of the species. The number or set of
chromosomes of the gamete is referred to as reduced or haploid (n) sets of chromosomes.
The somatic or body cells of most organisms contain two haploid cells known as Diploid
(2n).
Structure of Eukaryotic chromosome
CHROMATIDS: At mitotic metaphase each chromosome consists of two symmetrical
structures called chromatids. Each chromatids contains a single DNA molecule. Both
chromatids are attached to each other only by the centromere and become separated at the
beginning of anaphase, when each sister chromatids of a chromosome migrate to the
opposite poles.
CHROMONEMA (TA): This is seen as very thin filaments during mitotic prophase (the
term coined by Vejdovsky in 1912). It represents a chromatid in the early stages of
condensation. Therefore, chromatid and chromonema are two names for same structure: a
single linear DNA molecule with its associated proteins. The chromonemata form the
gene-bearing portions of the chromosomes.

3
MATRIX: (old view) a chromosome may have more than one chromonemata which are
embedded in the achromatic and amorphous substance, called matrix. The matrix is
enclosed in a shell or pellicle. Both the matrix and pellicle are non-genetic materials and
appear only at metaphase when the nucleolus disappears. It is believed that nucleolar
materials and matrix are interchangeable. i.e when chromosomal matrix disappears, the
nucleolus appears and vice versa. Electron microscopic observations have however
queried the occurrence of pellicle and matrix in them.

CHROMOMERES: These are bead-like accumulations of chromatin material that are

sometimes visible along interphase chromosomes. They are regions of tightly folded
DNA.

SHAPE OF EUKARYOTIC CHROMOSOMES

• The shape of the chromosomes is changeable from phase to phase in the continuous
process of the cell growth and cell division. In the resting phase or interphase stage of
the cell, the chromosomes occur in the form of thin, coiled, elastic and contractile,
thread-like stainable structures, the chromatin threads.

• Chromatin is a nucleoprotein complex in which DNA strand is associated with

protein.

• The associated proteins are Basic proteins (HISTONES) and acidic proteins (NON-
HISTONES).

• Both DNA-histone and histone-histone binding are important for chromatin structure
and the histones found in all eukaryotic cell are

• H1 = very rich in lysine (molecular weight 21,500)

• H2A and H2B = lysin-rich (14,000 and 13,775 respectively)

• H3 and H4 = Arginine-rich (15,320 and 11,280 respectively)

• The molar ratios of histones are 1H1:2 H2A: 2H2B: 2H3: 2H4

4
• They are found firmly associated with DNA-histone complex.

• The molecules of non- histone protein are numerous and heterogenous and may
include enzyme involved in DNA and RNA synthesis.

• Non-histones contents vary throughout cell cycle from one cell to another but histones
remain constant.

There are two distinct types of chromatins

• Heterochromatin: This is the region of condensed chromosome which are stained
darkly

• Euchromatin: This is the region of the chromatin that is slightly stained.

EUCHROMATIN HETEROCHROMATIN

Slightly stained Darkly stained

5
 Uncoiled state and unclumped Higher order of folding coiled an

DNA active DNA inactive

Replicates earlier Replicates later

CENTROMERE: Each chromosome has a single differentiated region somewhere along

its length that seem to act as the point at which force is exerted in the separation of
dividing chromosome. These clear regions are termed centromere.

In metaphase and anaphase, the chromosomes become thick and filamentous. Each
chromosome contains a clear zone known as centromere or kinetocore, along their length.
The centromere divides the chromosome into two parts, each part is called chromosome
arm.

Structure of eukaryotic chromosome

6
 The position of centromere varies from chromosome to chromosome. It provides different
shapes to the chromosome. It can be used to identify each chromosome i.e Telocentric,
metacentric, submetacentric and acrocentric.

VIRAL CHROMOSOME

The chromosome of viruses consists of a single nucleic acid molecule. Either DNA or
RNA, single or double stranded.

They cannot replicate in the absence of their host cell as they depend on host
biosynthesis mechanism to duplicate their genetic material and synthese in their
protein coat.

7
 BACTERIAL CHROMOSOME

• They are simple relatively in form compare with those of the eukaryotes. It
consist of double stranded DNA molecules compacted into a structure referred to
as nucleoid. E. coli has a large circular chromosome measuring approximately
1200µm in length.

• DNA found is associated with several types of DNA proteins and the proteins
are small and contain high percentage of positively charged amino acids.

8
Bacterial chromosome structure

Genetic disorder

An inherited medical condition caused by a DNA abnormality.

Most common types

Down syndrome

A genetic chromosome 21 disorder causing developmental and intellectual

delays.

Cystic fibrosis

An inherited life-threatening disorder that damages the lungs and digestive

system.

Huntington's disease

An inherited condition in which nerve cells in the brain break down over time.

9
Duchenne muscular dystrophy

An inherited disorder of progressive muscular weakness, typically in boys.

Sickle cell anemia

A group of disorders that cause red blood cells to become misshapen and break
down.

Haemophilia

A disorder in which blood doesn't clot normally.

Thalassemia

A blood disorder involving lower-than-normal amounts of an oxygen-carrying

protein.

Fragile X syndrome

A genetic condition causing intellectual disability.

At the end of this unit, you should know the following:

 Definition of a gene
 What is a genetic material?
 Importance of the genetic material
 Structure of the chromosome
 Types of chromosomes
 Shapes of chromosomes

10
SIGNIFICANCE OF CHROMOSOME IN CELLULAR REPRODUCTION AND
DEVELOPMENT

 In mitosis, the daughter cells receive precisely the same number and type of
chromosome as the original parent cell i.e. diploid constitution is maintained from one
generation of the cell to the other
 Mitosis is the type of division during growth of an organism to healing of cuts. It is
the basis of asexual reproduction

Meiosis

 This is also referred to as reduction division. It is a complex process and is of great

significance in the life cycle of plants and animals which reproduces sexually.
 If mitosis is the only method of cell division, after every act of fertilization, the
chromosomes number of individuals will become doubled in subsequent generations.
The increase in number of chromosomes is harmful and creates imbalance between
cytoplasm and the nucleus which may ultimately cause several variations and
malformations in the organisms.
 Failure of meiosis leads to the formation of diploid gametes which after fertilization
form polypoid forms.

Importance of meiosis

 With the exchange of chromatids during meiosis genes are interchanged.

 The interchanged of genes leads to recombination of characters in the progeny
 It is a reduction division and so prevent unnecessary doubling of genetic material
from one generation to the other.

Molecular Genetics
Chromosome – Definition, Structure, Function, Examples
Chromosomes are thread-like structures present in the nucleus. They are
important because they contain the basic genetic material DNA. These are
present inside the nucleus of plants as well as animal cells. Chromosomes
were first discovered by Strasburger in 1815 and the term ‘chromosome’
was first used by Waldeyer in 1888. Human beings have 46 chromosomes
in their body. These are arranged into 23 pairs. Let us discuss the
chromosome structure in detail.

11
 Definition of Chromosome
“A Chromosome looks like a thread and is coiled material, made of
proteins. Chromosomes are present in the nucleus of all the cells and
contain the basic genetic material DNA, which passes from one generation
to another”.
Structure:
A chromosome has generally 8 parts; Centromere or primary constriction
or kinetochore, chromatids, chromatin, secondary constriction, telomere,
chromomere, chromonema, and matrix.
 Centromere or Kinetochore: It is the primary constriction at the center
to which the chromatids or spindle fibers are attached. Its function is to
enable movement of the chromosome during the anaphase stage of cell
division.
 Chromatid: During cell division, a chromosome is divided into 2 identical
half strands joined by a centromere. A chromatid is each half of the
chromosome joined. Each chromatid contains DNA and separates at
Anaphase to form a separate chromosome. Both chromatids are attached
to each other by the centromere.
 Chromatin: It is a complex of DNA and proteins that forms chromosomes
within the nucleus of eukaryotic cells. Nuclear DNA is highly condensed
and wrapped around nuclear proteins in order to fit inside the nucleus. In
other words, it is not present as free linear strands. The chromatin consists
of DNA, RNA, and protein.
 Secondary Constriction: It is generally present for the nucleolar
organization.
 Telomere: Telomere is the terminal region of each side of the
chromosome. Ach chromosome has 2
 Chromonema: It is a threadlike coiled filamentous structure along which
chromomeres are arranged. Chromonema controls the size of the
chromosome and it acts as a site of gene bearing.
 Chromomeres: These are the bead-like structures present on threads or
chromonema. These are arranged in a row along the length of
chromonema. The number of chromosomes is constant and it is
responsible for carrying the genes during cell division to the next
generation.
 Matrix: Pellicle is the membrane surrounding each of the chromosomes.
Matrix is the jelly-like substance present inside pellicle. It is formed of non-
genetic materials.

12
 Functions of Chromosomes
For the first time, Sutton and Bover suggested the role of chromosomes in
heredity in 1902.
1. The most important function of chromosomes is to carry the basic genetic
material – DNA. DNA provides genetic information for various cellular
functions. These functions are essential for growth, survival, and
reproduction of the organisms.
2. Histones and other proteins cover the Chromosomes. These proteins
protect it from chemical (e.g., enzymes) and physical forces. Thus,
chromosomes also perform the function of protecting the genetic material
(DNA) from damage during the process of cell division.
3. During cell division, spindle fibers attached to the centromeres contract
and perform an important function. The contraction of centromeres of
chromosomes ensures precise distribution of DNA (genetic material) to the
daughter nuclei.
4. Chromosomes contain histone and non-histone proteins. these proteins
regulate gene action. Cellular molecules that regulate genes work by
activating or deactivating these proteins. This activation and deactivation
expand or contract the chromosome.
Examples of Types of Chromosomes
 Metacentric Chromosomes: Metacentric chromosomes have the
centromere present exactly in the center. Both the sections are
metacentric chromosomes are therefore of equal length. Example:
Human chromosome 1 and 3 are metacentric.
 Submetacentric Chromosomes: In Submetacentric chromosomes, the
centromere is not present exactly at the center. The centromere is slightly
offset from the center. Both the sections are therefore not of equal length
or are asymmetrical. Example: Human chromosomes 4 to 12 are
submetacentric.
 Acrocentric Chromosomes: Acrocentric chromosomes have a
centromere which is highly offset from the center. Therefore, one of the
strands is very long and one very short. Example: Human chromosomes
13,15, 21, and 22 are acrocentric.
 Telocentric Chromosomes: In telocentric chromosomes, the centromere
is present at the very end of the chromosome. Telocentric chromosomes
are present in species such as mice. Humans do not possess telocentric
chromosomes.
Question on Chromosome Structure
Q: How do genetic disorders occur?
Ans: When DNA sequence in chromosomes changes, genetic disorders
occur. The mutation refers to a change in the DNA sequence. The
monogenic disorder occurs when a mutation occurs in one gene.
Multifactorial genetic disorder occurs when mutation occurs in multiple
genes. Human beings have 23 pairs of chromosomes. All the diseases
have a genetic component and the mutations pass from one generation to
the other. Cancer, diabetes, obesity are examples of such diseases.

13
14