CONCEPT OF

GENE

Presented By:
NUPUR GUPTA
M.Sc Biotech I

CONTENTS
History
Definition of Gene
Structure of Gene
Pseudoallelism
Cis-Trans Test
Complementation Test
T4 Bacteriophage
Benzers Experiment on rII Locus

HISTORY
Term GENE was introduced by
JOHANSSEN in 1909 based on Mendelian
Factors.
Gene Concept was given by SUTTON.
Studied & Elaborated by MORGAN,
BRIDGES, and MULLER.

SUMMARY OF EVOLUTION OF GENE CONCEPT

YEAR

SCIENTIST

GENE CONCEPT

1866

G.J. MENDEL

A UNIT FACTOR THAT

CONTROLS SPECIFIC
PHENOTYPIC TRAIT

1902

SIR A.E.GARROD

ONE GENE ONE

METABOLIC BLOCK
THEORY

1940

BEADLE & TATUM

ONE GENE-ONE
ENZYME THEORY

1957

U.M.INGRAM

ONE GENE-ONE
POLYPEPTIDE THEORY

1960s

C.YANOFSKY &
CO-WORKERS

GENE IS A UNIT OF
RECOMBINATION

Early 1970s

E.B.LEWIS

COMPLEMENTATION
TEST IN DROSOPHILA

CLASSICAL DEFINITION
OF GENE
Gene is the Unit of
Function (one gene
specifies one
character),
Recombination, and
Mutation.

MORDERN DEFINITION
OF GENE
Gene is the Unit of
Genetic Information,
i.e., the sequence of
DNA that specifies
one polypeptide.
Includes coding as well
as non-coding
regulatory sequences.

ESSENTIAL FEATURES
o Determines the physical as well as
physiological characters.
o Situated in the chromosome.
o Occupies a specific position known as
Locus.
o Arranged in single linear order.
o Occur in functional states called Alleles.
o Some have more than 2 alleles known as
Multiple Alleles.

o Some may undergo sudden change in

expression called as Mutant Gene
(Mutation).
o May be transferred to its
homologous (Cross-over) or nonhomologous counterpart
(Translocation).
o Can duplicate themselves very
accurately (Replication).
o Synthesizes a particular Protein.
o Determines the sequence of amino
acid in the polypeptide chain (The
Genetic Code).

SOME TERMS RELATED

TO GENE
BENZA has coined new terms to
denote the relationship between
DNA molecule and genetic
phenomenon.

RECON - It is the smallest unit of

DNA capable of
undergoing Crossing Over and
Recombination.
MUTON - It is the smallest unit of DNA
which can undergo Mutation.
CISTRON - It is the unit of Function.
It is the Gene in real sense capable of
synthesizing a Polypeptide chain of an
Enzyme.
COMPLON - It is the unit of
Complementation.

A REGION SHOWING TWO CISTRONS

ALLELES WITHIN GENE SHOWING RECOMBINATION AND MUTATION SITES

PSEUDOALLELISM
It is the phenomenon shown by Pseudoalleles.
Term Pseudoalleles was given by MORGAN (1928)
and LEWIS (1948).
These are located almost at same place on linkage
map, interpreted as closely linked and functionally
related genes.
Referred as any two or more mutations which are
allelic (similar) in function but not in structure.
Cluster is called as Pseudoallelic series or Complex
Loci.

CIS-TRANS TEST
CIS
HETEROZYGOTES
o Both the mutant
alleles are located
in same
chromosome, while
Wild types are
present in
homologous
chromosome.

TRANS
HETEROZYGOTES
o One mutant allele
is located in one
chromosome, while
other one in
homologous
chromosome.

o Produce wild type

phenotype
irrespective of
whether the two
mutant alleles are
present in same
gene or different
ones.

o Produce mutant
phenotype if the
two alleles are
located in same
gene and wild type
phenotype if in two
different genes.

So, by comparing the phenotypes produced

in cis and trans heterozygote, we can find
if mutant alleles are present in same or
two different genes.

CIS-TRANS TEST

COMPLEMENTATION
TEST
o Production of wild type phenotype in a
trans-heterozygote for two mutant alleles
is known as Complementation.
o Such a study is known as Complementation
Test.
o Results are highly precise, reliable and
permit an operational demarcation of the
gene.

INTRAGENIC
COMPLEMENTATION
Complementation shown by mutant allele
within the gene.
Their active products are multimers of
homologous polypeptides, which may be
either a homomultimer or a
heteromultimer.
Can be inactive or partially active.

LIMITATIONS
o Cannot be applied to dominant or co-dominant
mutant alleles.
o Applicable to non-polar mutations only.
Mutants ideal for test are mainly deletion,
non-sense mutants etc.
o Cis-acting genes cannot show
complementation.
o Mutant alleles located in same gene may show
complementation.

STUDY ON rII LOCUS OF

T4 BACTERIOPHAGE
A Great
Contribution to
recombination
mapping by
SEYMOUR
BENZER in 1962.

STRUCTURE OF T4
BACTERIOPHAGE

FEATURES:o Contains chromosome

of about 200kb.
o Lyses cell in 20-25
mins liberating 200300 progeny particles.
o Produce a uniform
confluent growth or
lawn.
o Produce clear zones or
plaques.

rII LOCUS OF T4 PHAGE

o Some phage produce larger plaques with
clear margins, called as rapid lysis mutants,
denoted by r.
o It has 3 distinct loci called rI, rII, and
rIII.
o Mutants in rII locus are recognized due to
their inability to grow in E.coli strain
K12().
o These are conditional lethals, a property
exploited by BENZER.

EXPERIMENT
o Benzer isolated over 3000 independent
mutants of rII locus.
o He infected the E.coli strain K12() cells
with mixture of 2 rII mutants rII
mutant I & II.
o Kept for about 90-120 mins to permit
phage multiplication and cell lysis.
o Cells infected with both the mutants are
selected.
o Placed on E.coli strain B lawns to detect
presence of phage particles and to study
the complementation between them.

COMPLEMENTATION
TEST
o Benzer noticed 2 arbitrary groups
within rII locus and named as A &
B.
o The mutants belonging to both A & B
showed complementation, whereas
those belonging to either A or B
failed to complement each other.

COMPLEMENTATION TEST

RECOMBINATION MAPPING
o Frequency of = 2 x No.ofplaquesonK12()

recombination
No. of plaques on B
o Highly efficient selection system for wild
type phage particles.
o Upto 108 phage particles can be plated in
single petri -plate.
o The number of plaques on K12() represents
the number of wild type phage particles
present in the lysate.

REFERENCES
Gupta P.K.(2009); Genetics; Recombination and Resolution
of Gene; Edition IV; Rastogi Publications; Page no:142-153
Singh B.D.(2009); Genetics; Multiple Alleles; Edition II;
Kalyani Publishers; Page no:274-284
Gupta P.K.(2004-05); Fine Structure of Gene at Genetic
Level; Edition III; Rastogi Publications; Page no:141-150
Jain H.K.; Gene Structure & Concept; Edition V; Page
no:192-200
Lewin Benjamin; What is a Gene? A Genetic View; Wiley
Eastern Publications; Page no:3-20
Verma P.S. and Agarwal V.K.(2006); Fine Structure of Gene;
S.Chand Publication; Page
no:127133
www.wikipedia.com

ANY QUESTIONS