BTB 103 Molecular Biology (2+1) – 2017 Syllabus Dr. S. RAJESH, PhD.

,
Assistant Professor (Biotech.)
Centre for Plant Molecular Biology & Biotechnology
TNAU, Coimbatore – 641 003.

LECTURE 7

GENE-DEFINITION, CONCEPT OF GENE-CLASSICAL AND MODERN CONCEPTS

Definition

Gene is defined as the basic physical and functional units of heredity. Gene represents specific
sequences of DNA bases that encode instructions on how to make proteins.

The word ‘gene’ has two meanings:

(1) the determinant of an observable trait or characteristic of an organism, or

(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.

Gene: Changing perceptions over years

Gregor Mendel noticed that biological variations are inherited from parent organisms as
specific, discrete traits. The biological entity responsible for defining traits was later termed a gene, but
the biological basis for inheritance remained unknown until DNA was identified as the genetic material
in the 1940s.

Although Mendel's work was largely unrecognized after its first publication in 1866, it was
rediscovered in 1900 by three European scientists, Hugo de Vries, Carl Correns, and
Erich von Tschermak, who had reached similar conclusions from their own research. However, these
scientists were not yet aware of the identity of the 'discrete units' on which genetic material resides.
Although Mendel did not use the term gene, he explained his results in terms of inherited characteristics.

Mendel was the first to hypothesize independent assortment, the distinction between dominant
and recessive traits, the distinction between a heterozygote and homozygote, and the difference
between what would later be described as genotype (the genetic material of an organism) and
phenotype (the visible traits of that organism).

Charles Darwin used the term Gemmule to describe a microscopic unit of inheritance, and what
would later become known as Chromosomes had been observed separating out during cell division by
Wilhelm Hofmeister as early as 1848.

The idea that chromosomes are the carriers of inheritance was expressed in 1883 by Wilhelm
Roux.

Darwin also coined the word pangenesis by (1868). The word pangenesis is Greek pan (meaning
"whole", "encompassing") and genesis ("birth") or genos ("origin").

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BTB 103 Molecular Biology (2+1) – 2017 Syllabus Dr. S. RAJESH, PhD.,
Assistant Professor (Biotech.)
Centre for Plant Molecular Biology & Biotechnology
TNAU, Coimbatore – 641 003.

Mendel's concept was given a name by Hugo de Vries in 1889, in his book Intracellular
Pangenesis; although probably unaware of Mendel's work at the time, he coined the term "pangen“ for
"the smallest particle [representing] one hereditary characteristic“.

Danish botanist Wilhelm Johannsen coined the word "gene" ("gen" in Danish and German) in
1909 to describe the fundamental physical and functional units of heredity, while the related word
genetics was first used by William Bateson in 1905. He derived the word from de Vries' "pangene".

A series of subsequent discoveries led to the realization decades later that chromosomes within
cells are the carriers of genetic material, and that they are made of DNA (deoxyribonucleic acid), a
polymeric molecule found in all cells on which the 'discrete units' of Mendelian inheritance are encoded.

1941 George Wells Beadle and Edward Lawrie Tatum showed that mutations in genes caused errors in
specific steps in metabolic pathways. This showed that specific genes code for specific proteins,
leading to the "one gene, one enzyme" hypothesis.
1944 Oswald Avery, Colin Munro MacLeod, and Maclyn McCarty showed that DNA holds the gene's
information.
1953 James D. Watson and Francis Crick demonstrated the molecular structure of DNA. Together,
these discoveries established the central dogma of molecular biology, which states that proteins
are translated from RNA which is transcribed from DNA. This dogma has since been shown to
have exceptions, such as reverse transcription in retroviruses.
Gerstein et al. Definition of a gene

"A gene is a union of genomic sequences encoding a coherent set of potentially overlapping
functional products". Colloquially, the term gene is often used to refer to an inheritable trait which is
usually accompanied by a phenotype as in ("tall genes" or "bad genes") -- the proper scientific term for
this is allele.

Classical Genetics

The phenotype of an organism denotes its external appearance (size, color, intelligence, etc.).
Classical genetics showed that genes control the transmission of phenotype from one generation to the
next. Biochemistry showed that within one generation, proteins had a determining effect on phenotype.
For many years, however, the relationship between genes and proteins was a mystery.

Then, it was found that genes contain digitally encoded instructions that direct the synthesis of
proteins.

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BTB 103 Molecular Biology (2+1) – 2017 Syllabus Dr. S. RAJESH, PhD.,
Assistant Professor (Biotech.)
Centre for Plant Molecular Biology & Biotechnology
TNAU, Coimbatore – 641 003.

Classical investigation of the gene established that theoretical objects called genes were the
fundamental units of heredity.

According to the classical model of the gene:

 Genes behave in inheritance as independent particles.

 Genes are carried in a linear arrangement in the chromosome, where they occupy stable
positions.
 Genes recombine as discrete units.
 Genes can mutate to stable new forms.
 Basically, genes seemed to be particulate objects, arranged on the
 Chromosome like “beads on a string.”

Bead Theory

The bead theory is a disproved hypothesis that genes are arranged on the chromosome like
beads on a necklace. This theory was first proposed by Thomas Hunt Morgan after discovering genes
through his work with breeding red and white eyed fruit flies. According to this theory, the existence of
a gene as a unit of inheritance is recognized through its mutant alleles. A mutant allele affects a single
phenotypic character, maps to one chromosome locus, gives a mutant phenotype when paired and
shows a Mendelian ratio when inter-crossed.

Several tenets of the bead theory are worth emphasizing: -

1. The gene is viewed as a fundamental unit of structure, indivisible by crossing over. Crossing over
takes place between genes (the beads in this model) but never within them.

2. The gene is viewed as the fundamental unit of change or mutation. It changes in toto from one
allelic form into another; there are no smaller components within it that can change.

3. The gene is viewed as the fundamental unit of function (although the precise function of gene is
not specified in this model)

Neo-Classical definitions of gene/Modern Concepts

Therefore, cistron, recon and muton are the units, in the descending order of size and since
gene is not synonymous to cistron, as explained above, it will be at the top of this hierarchy. Thus a gene

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BTB 103 Molecular Biology (2+1) – 2017 Syllabus Dr. S. RAJESH, PhD.,
Assistant Professor (Biotech.)
Centre for Plant Molecular Biology & Biotechnology
TNAU, Coimbatore – 641 003.

can consist of several cistrons, a cistron of several recons and a recon of several mutons. A recon and a
muton may be of the same size, so that in such a case recon may not consist of several mutons

Seymour Benzer showed in the 1950s that the bead theory was not correct. He demonstrated that a
gene can be defined as a unit of function in his experiment with T4 bacteriophages (T4-rII system).
A gene can be subdivided into a linear array of sites that are mutable and that can be recombined. The
smallest units of mutation and recombination are now known to be correlated with single nucleotide
pairs.

1972, Walter Fiers and his team at the Laboratory of Molecular Biology of the University of Ghent
(Ghent, Belgium) were the first to determine the sequence of a gene: the gene for Bacteriophage
MS2 coat protein.

1977, Richard J. Roberts and Phillip Sharp discovered that genes can be split into segments. This led to
the idea that one gene can make several proteins.

In particular, genes do not seem to sit side by side on DNA like discrete beads. Instead, regions of the
DNA producing distinct proteins may overlap, so that the idea emerges that "genes are one long
continuum".

Since, during 1950s, the DNA was well established as the genetic material and was known to be a linear
molecule, a polymer of a long chain of nucleotides, the divisibility of a gene into smaller units was
now not difficult to imagine or understand.

The advent of molecular biology led to a revolution in the understanding of a gene. Interestingly,
although it is more than six decades since the structure of DNA was deciphered, we continue to discover
something new about genes.

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