CELL AND MOLECULAR

BIOLOGY
Chapter 5

GENES
CHROMOSOMES
GENOMES
Learning Outcomes:
a. Define and describe genes,
chromosomes and genomes.
b. Trace the discovery of the
chromosomes.
c. Analyze the chemical structure of the
gene. Draw the structure of the
genome.
GENES
WHAT IS A GENE?
 it is considered the basic unit of inheritance.
 Genes carry the information that determines your traits, which are
features or characteristics that are passed on to you — or inherited
— from your parents.
 Each cell in the human body contains about 25,000 to 35,000
genes.
 Genes are passed from parents to offspring and contain the
information needed to specify physical and biological traits.
 Most genes code for specific proteins, or segments of proteins,
which have differing functions within the body.
 For example, if both of your parents have green
eyes, you might inherit the trait for green eyes
from them. Or if your mom has freckles, you
might have freckles too because you inherited the
trait for freckles. Genes aren't just found in
humans — all animals and plants have genes, too.
Where are these important
genes?
- they are so small you can't see
them. Genes are found on tiny
spaghetti-like structures called
chromosomes .And chromosomes
are found inside cells. Your body is
made of billions of cells. Cells are
the very small units that make up
all living things. A cell is so tiny
that you can only see it using a
strong microscope.
 Chromosomes come in matching sets of two (or pairs)
and there are hundreds — sometimes thousands — of genes
in just one chromosome. The chromosomes and genes are
made of DNA, which is short for deoxyribonucleic acid.
Most cells have one nucleus. The nucleus is a small egg-
shaped structure inside the cell which acts like the brain of
the cell. It tells every part of the cell what to do. But, how
does the nucleus know so much? It contains our
chromosomes and genes. As tiny as it is, the nucleus has
more information in it than the biggest dictionary you've
ever seen.
In humans, a cell nucleus contains 46
individual chromosomes or 23 pairs
of chromosomes (chromosomes come
in pairs, remember? 23 x 2 = 46).
Half of these chromosomes come from
one parent and half come from the
other parent.
Under the microscope, we can see that chromosomes come in
different lengths and striping patterns. When they are lined
up by size and similar striping pattern, the first twenty two of
the pairs these are called autosomes; the final pair of
chromosomes are called sex chromosomes, X and Y. The
sex chromosomes determine whether you're a boy or a girl:
females have two X chromosomes while males have one X
and one Y.
But not every living thing has 46 chromosomes inside of its
cells. For instance, a fruit fly cell only has four
chromosomes!
How Do Genes Work?

Each gene has a special job to do. The DNA in a gene

spells out specific instructions—much like in a cookbook
recipe — for making proteins in the cell.
Like chromosomes, genes also come in pairs. Each of your
parents has two copies of each of their genes, and each
parent passes along just one copy to make up the genes
you have. Genes that are passed on to you determine many
of your traits, such as your hair color and skin color.
 Genes are the part of our genome that encodes the
information for making those proteins.
For example, the human genome has roughly 20,000
protein-coding genes. Interestingly, all of the information
for those 20,000 protein-coding genes is encoded by only
1.5% of the entire human genome. A more expansive
definition of a gene includes those segments of DNA that
encode information for making an RNA molecule that
functions in some fashion other than directly coding for a
protein; these are sometimes referred to as RNA genes.
EXAMPLE:

Maybe Emma's mother has one gene for

brown hair and one for red hair, and she
passed the red hair gene on to Emma. If her
father has two genes for red hair, that could
explain her red hair. Emma ended up with
two genes for red hair, one from each of her
parents.
Gene pairs enable genetic
combinations: A child will inherit half
of its genes (one of each of its 23
pairs) from its mother and the other
half from its father.
 You also can see genes at work if you think about
all the many different breeds of dogs. They all have
the genes that make them dogs instead of cats, fish,
or people. But those same genes that make a dog a
dog also make different dog traits. So some breeds
are small and others are big. Some have long fur
and others have short fur. Dalmatians have genes
for white fur and black spots, and toy poodles have
genes that make them small with curly fur.
CHROMOSOMES
What is a Chromosome?
 Chromosomes are the rod-shaped, filamentous
bodies present in the nucleus, which become
visible during cell division.
 They are the carriers of the gene or unit of
heredity
 Chromosomes are not visible in active nucleus
due to their high water content, but are clearly
seen during cell division.
 DISCOVERY OF CHROMOSOMES
 Chromosomes where first described by Strausberger in
1875.
 The term “ chromosome”, however was first used by
Waldeyer in 1888.
 They were given the name chromosome ( Chromo =
colour, Soma = body ) due to their marked affinity for
basic dyes.
 Their number can be counted easily only during mitotic
metaphase.
 The chromosome was first discovered by
Walther Flemming.
 He named the thread-like structure that is
present in the nucleus as chromatin in 1878.
 Karl Nageli observed the rod shape of
chromosomes in the plant cell in 1842 and
called them transitory cytoblasts, which were
later identified as chromosomes.
Chromosomes is a structure found
inside the nucleus of a cell. A
chromosome is made up of proteins and
DNA organized into genes.
 Each cell normally contains 23 pairs
of 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 are not visible in
the cell’s nucleus—not even under a
microscope—when the cell is not
dividing. However, the DNA that
makes up chromosomes becomes
more tightly packed during cell
division and is then visible under a
microscope. Most of what
researchers know about
chromosomes was learned by
observing chromosomes during cell
division.
 Each chromosome has a constriction
point called the centromere, which divides
the chromosome into two sections, or
“arms.” The short arm of the chromosome
is labeled the “p arm.” The long arm of
the chromosome is labeled the “q arm.”
The location of the centromere on each
chromosome gives the chromosome its
characteristic shape, and can be used to
help describe the location of specific
genes.

 DNA and histone proteins are packaged

into structures called chromosomes.
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.
 CHROMATID

Two exact copies of a chromosome that are

connected together.
The point where they are connected near the middle
is called the centromere.
Chromatids are made when new cells are going to
be made.
 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.
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.
Types of Chromosomes

1. Metacentric Chromosomes
2. Submetacentric Chromosomes
3. Acrocentric Chromosomes
4. Telocentric Chromosomes
1. 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.

2. 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.
3. 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.

4. 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.
 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.
Eukaryotic Chromosome Structure

Chromosomes are only visible when a cell is dividing

so we usually see them in their double-stranded form.
Each species has a specific number of
chromosomes.

Diploid (2n) : two sets of chromosomes

 Found in all the non-sex cells or autosomes of
an organism's body

Haploid (n) one set of chromosomes.

 Only sperm and egg cells(sex cells) have the
haploid number.
Homologous Chromosomes

 Chromosomes containing
the same type of genetic
information
 one comes from male
parent, one comes from
female parent
The chromosomes diagrammed below are arranged in a
karyotype, the 46 chromosomes have been arranged in
homologous pairs.
 Autosomes: Body chromosomes or non
sex chromosomes (humans have 44 or 22
pairs)

 Sex Chromosomes: XX or XY (23rd pair

for humans) determines the sex of the
offspring
The first 22 pairs of homologous chromosomes are called autosomes or
autosomal chromosomes.

The 23rd pair of chromosomes determines the sex of the individual and
are called sex chromosomes.
The sex chromosomes of a female are XX.
The sex chromosomes of a male are XY.
GENOME
WHAT IS A GENOME?
 A genome is the entire set of DNA instructions found in a cell.
In humans, the genome consists of 23 pairs of chromosomes
located in the cells nucleus, as well as a small chromosome in
the cells mitochondria.
 A genome contains all the information needed for an individual
to develop and function.
 In living organisms, the genome is stored in long molecules of
DNA called chromosomes.

Genomics- study and analysis of genomes.

Chemical nature of the gene

Chemically, genes are deoxyribonucleic acid

(DNA), strings of nucleotides (adenine, A;
thymine, T; cytosine, C and guanine, G) whose
order determines the order of the 20 amino acids
in proteins. Proteins in turn determine the
chemistry of the cell by catalysing reactions.
Chemical Structure of Genes

Genes are composed of

deoxyribonucleic acid (DNA),
except in some viruses, which have
genes consisting of a closely related
compound called ribonucleic acid
(RNA). A DNA molecule is
composed of two chains of
nucleotides that wind about each
other to resemble a twisted ladder.
The discovery in 1953 of the double helix, the twisted-ladder structure of
deoxyribonucleic acid (DNA), by James Watson and Francis Crick marked
a milestone in the history of science and gave rise to modern molecular
biology, which is largely concerned with understanding how genes control
the chemical processes within cells. In short order, their discovery yielded
ground-breaking insights into the genetic code and protein synthesis.
Researchers working on DNA in the early 1950s used the term "gene" to
mean the smallest unit of genetic information, but they did not know what a
gene actually looked like structurally and chemically, or how it was copied,
with very few errors, generation after generation.
Crick and Watson recognized, at an early stage in their careers, that gaining a
detailed knowledge of the three-dimensional configuration of the gene was
the central problem in molecular biology. Without such knowledge, heredity
and reproduction could not be understood.
Watson and Crick Propose the Double Helix

Chargaff's realization that A = T and C = G, combined with some crucially

important X-ray crystallography work by English researchers Rosalind
Franklin and Maurice Wilkins, contributed to Watson and Crick's derivation of
the three-dimensional, double-helical model for the structure of DNA. Watson
and Crick's discovery was also made possible by recent advances in model
building, or the assembly of possible three-dimensional structures based upon
known molecular distances and bond angles, a technique advanced by
American biochemist Linus Pauling. In fact, Watson and Crick were worried
that they would be "scooped" by Pauling, who proposed a different model for
the three-dimensional structure of DNA just months before they did. In the end,
however, Pauling's prediction was incorrect.
 Using cardboard cutouts representing the individual chemical
components of the four bases and other nucleotide subunits,
Watson and Crick shifted molecules around on their desktops, as
though putting together a puzzle. They were misled for a while by
an erroneous understanding of how the different elements in
thymine and guanine (specifically, the carbon, nitrogen,
hydrogen,
and oxygen rings) were configured. Only upon the suggestion of
American scientist Jerry Donohue did Watson decide to make
new cardboard cutouts of the two bases, to see if perhaps a
different atomic configuration would make a difference. It did.
Not only did the complementary bases now fit together perfectly
(i.e., A with T and C with G), with each pair held together by
Although scientists have made some minor changes to the Watson
and Crick model, or have elaborated upon it, since its inception in
1953, the model's four major features remain the same yet today.
These features are as follows:
DNA is a double-stranded helix, with the two strands connected by
hydrogen bonds. A bases are always paired with Ts, and Cs are
always paired with Gs, which is consistent with and accounts for
Chargaff's rule. Most DNA double helices are right-handed; that is,
if you were to hold your right hand out, with your thumb pointed up
and your fingers curled around your thumb, your thumb would
represent the axis of the helix and your fingers would represent the
sugar-phosphate backbone. Only one type of DNA, called Z-DNA,
is left-handed.
The DNA double helix is anti-parallel, which means that the 5' end
of one strand is paired with the 3' end of its complementary strand
(and vice versa).
Nucleotides are linked to each other by their phosphate groups,
which bind the 3' end of one sugar to the 5' end of the next sugar.
Not only are the DNA base pairs connected via hydrogen bonding,
but the outer edges of the nitrogen-containing bases are exposed
and available for potential hydrogen bonding as well. These
hydrogen bonds provide easy access to the DNA for other
molecules, including the proteins that play vital roles in the
replication and expression of DNA
One of the ways that scientists have elaborated on Watson and Crick's
model is through the identification of three different conformations of the
DNA double helix. In other words, the precise geometries and dimensions
of the double helix can vary. The most common conformation in most
living cells (which is the one depicted in most diagrams of the double
helix, and the one proposed by Watson and Crick) is known as B-DNA.
There are also two other conformations: A-DNA, a shorter and wider
form that has been found in dehydrated samples of DNA and rarely under
normal physiological circumstances; and Z-DNA, a left-handed
conformation. Z-DNA is a transient form of DNA, only occasionally
existing in response to certain types of biological activity (Figure 5).
ZDNA was first discovered in 1979, but its existence was largely ignored
until recently. Scientists have since discovered that certain proteins bind
very strongly to Z-DNA, suggesting that Z-DNA plays an important
biological role in protection against viral disease.
Summary

Watson and Crick were not the discoverers of DNA, but rather
the first scientists to formulate an accurate description of this
molecule's complex, double-helical structure. Moreover, Watson
and Crick's work was directly dependent on the research of
numerous scientists before them, including Friedrich Miescher,
Phoebus Levene, and Erwin Chargaff. Thanks to researchers
such as these, we now know a great deal about genetic structure,
and we continue to make great strides in understanding the
human genome and the importance of DNA to life and health.
References:
https://www.genome.gov/genetics-glossary/Gene#:~:text=The%20gene%20is%20considered%20the,differing%20fun
ctions%20within%20the%20body.
https://bio.libretexts.org/Bookshelves/Introductory_and_General_Biology/Book%3A_General_Biology_(Boundless)/
12%3A_Mendel's_Experiments_and_Heredity/12.02%3A__Patterns_of_Inheritance/12.2A%3A__Genes_as_the_Unit
_of_Heredity
https://kidshealth.org/en/kids/what-is-gene.html#:~:text=Genes%20carry%20the%20information%20that,or%20inheri
ted%20%E2%80%94%20from%20your%20parents.
https://medlineplus.gov/genetics/understanding/basics/chromosome/
https://profiles.nlm.nih.gov/spotlight/sc/feature/doublehelix
https://www.nature.com/scitable/topicpage/discovery-of-dna-structure-and-function-watson-397/
https://www.researchgate.net/figure/a-The-double-helical-structure-and-b-molecular-structure-of-DNA-36_fig1_3362
30572
https://www.researchgate.net/figure/a-The-double-helical-structure-and-b-molecular-structure-of-DNA-36_fig1_3362
30572
https://www.researchgate.net/figure/The-double-helical-structure-of-DNA-showing-the-sugar-phosphate-backbone-wi
th_fig17_313351348
https://www.freepik.com/premium-vector/vector-illustration-diagram-different-parts-chromosome_29612504.htm
https://www.shutterstock.com/search/types-chromosomes
https://www.toppr.com/guides/molecular-genetics/chromosome/
https://byjus.com/question-answer/who-discovered-the-chromosome/
By:
MARY JANE D. LUBRICO
JENNIEROSE MACUJA
BSED 3 - SCIENCE