Modern Concept of

Gene
Mendel while explaining the result of his breeding experiment pointed out that
the hereditary characters were governed by some particulate genetic determiners
or factors present in the germ cells. The genetic determiners of heredity
characters are now called ‘genes’. The term gene was coined by Johannsen (1909).
Hugo De Vries, a dutch botanist and early geneticist used the term ‘pangen’( a
supposed particle embodying a heritable character ) and perhaps, from this word
the term gene was derived.
After the rediscovery of Mendelian laws of heredity, the cytology advanced rapidly
and reached to the stage where Mendel’s hypothetical hereditary factors could
soon be correlated with the chromosomes on following grounds:
1. Like the chromosomes, Mendelian factors are carried singly in mature germ
cells.
2. Like the chromosomes, the hereditary factors are brought together in pairs by
fertilization.
3. Like the chromosomes they separate or segregate at the time of germ cell
formation in different generations.
• The only objection in treating the chromosomes equivalent to Mendelian
factors is that the number of Mendelian factors in the organisms far exceeds
the number of chromosomes. In 1902, Sutton and Boveri independently
suggested the way out for this objection and considered the chromosomes as
containers of Mendelian hereditary units.
Key incidents and discoveries

• Classical concept
Mendel and Darwin Propose Mechanisms of Heredity
• Evolution of modern concept of gene
Flemming, Boveri, and Sutton Connect Chromosomes to Heredity
• Walther Flemming Describes Chromosomes - 1879
• Theodor Boveri Links Chromosomes and Heredity - 1902
• Walter Sutton Finds Evidence for Mendel's Principles on 1902
Walter Sutton and Theodor Boveri independently developed different parts of the
chromosome theory of inheritance in 1902. It states simply that chromosomes, which are
seen in all dividing cells and pass from one generation to the next, are the basis for all
genetic inheritance.
• Thomas Hunt Morgan Experimentally Demonstrates Chromosome Theory on 1910
Chromosomal theory of inheritance by Boveri
and Sutton
The chromosomal theory of inheritance was given by Boveri and Sutton in the early
1900s. It is the fundamental theory of genetics. According to this theory, genes are the
units of heredity and are found in the chromosomes. The postulates are:
• The factors described by Mendel are the genes that are the actual physical units of
heredity
• The genes are present on the chromosomes in a linear fashion
• Each organism has a fixed number of chromosomes which occur in two sets referred
to as diploid.
• One set is received from the male parent and other from the female parent.
• The chromosomes and therefore the genes segregate and assort independently at
the time of gamete formation as explained in the law of segregation and
independent assortment.
Thomas Hunt Morgan Experimentally Demonstrates
Chromosome Theory
https://oldsite.pup.ac.in/e-content/science/botany/MScBot7.pdf
Some relevant terms

Cis and trans phase

• When both the recessive
or the dominant alleles for
two traits are on the same
chromosome, it is called
the cis phase. However,
when a recessive and
dominant allele for the
different traits are on the
same chromosome, it is
called the trans phase.
Intron, exon and regulatory
sequences
• Exons are the coding sequences that code for the amino acid sequence of the
protein. Exons are present in mature mRNA after post-transcriptional
modification. These are highly conserved sequences, i.e., they do not
frequently change with time.
• Introns are intervening sequences between two exons found in eukaryotes.
They do not directly code for proteins. They are removed before the mRNA
forms proteins. Therefore, these introns undergo the process of splicing.
Introns are the non-coding parts of the nucleotides and are not highly
conserved. It is essential to remove introns to prevent the formation of
incorrect proteins.
• A regulatory sequence is a segment of a nucleic acid molecule which is capable
of increasing or decreasing the expression of specific genes within an
organism. Regulation of gene expression is an essential feature of all living
organisms and viruses.
Locus
In genetics, a locus ( plural : loci) is a specific, fixed position on a chromosome
where a particular gene or genetic marker is located.
Nomenclature
• The shorter arm of a chromosome is termed the p
arm or p-arm, while the longer arm is the q arm or q-
arm. The chromosomal locus of a typical gene, for
example, might be written 3p22.1, where:
• 3 = chromosome 3
• p = p-arm
• 22 = region 2, band 2 (read as "two, two", not
"twenty-two")
• 1 = sub-band 1
• Thus the entire locus of the example above would be
read as "three P two two point one". The cytogenetic
bands are areas of the chromosome either rich in
actively-transcribed DNA (euchromatin) or packaged
DNA (heterochromatin). They appear differently upon
staining (for example, euchromatin appears white and
heterochromatin appears black on Giemsa staining).
They are counted from the centromere out toward
the telomeres.
Complex loci
A set of closely linked genetic loci with a common function, for example -
major histocompatibility complex locus.
Mammalian genomes harbor a larger than expected number of complex loci, in
which multiple genes are coupled by shared transcribed regions in antisense
orientation and/or by bidirectional core promoters.
In the traditional view, most genes occupy their own distinct territory in
mammalian genomes. However, it has become apparent that many genes are in
fact located in complex regions called complex loci where they share territory
with other genes by utilizing opposite strands of DNA. Such genes either share
regions expressed as mRNA i.e., form cis–antisense pairs or start from a genome
region, called a bidirectional promoter at which transcription can initiate in both
directions along the DNA.
• A cis-antisense gene pair (CASGP) is a pair of genes mapped to opposite strands of the same
locus and therefore transcribed in opposite directions.
• Bidirectional promoters are promoter sequences between divergently transcribed
neighboring gene (less than 1000 nucleotides in between) pairs that initiate transcription in
both directions.
Bar locus
The bar locus is a region of tandem repeats(directly adjacent repeats). The
mutant Bar gene is responsible for conferring a phenotype called "bar eyes"
or narrow eyes while the wild type Drosophilas have round eyes. The gene
is present on the X chromosome which means it is sex-linked.
• In his 1925 GENETICS paper (Sturtevant 1925),
Sturtevant proved that unequal crossing over was
responsible for generating stronger ultra-
Bar alleles (which he renamed double-Bar). He
showed that unequal recombination between
two Bar alleles could generate double-Bar alleles.
In this model, the wild-type condition was a single
unit at Bar, and the Bar mutation was a
duplication. If one of the two Bar units on one
homolog paired out-of-register with a unit on the
other homolog, a crossover could generate one
“revertant” product with a single unit, and
one double-Bar product that contained three
units. The crossovers between Bar alleles only
occurred in females.
Complementation
Complementation refers to a genetic process when two strains of an organism with different homozygous
recessive mutations that produce the same mutant phenotype (for example, a change in wing structure in
flies) have offspring that express the wild-type phenotype when mated or crossed. Complementation will
ordinarily occur if the mutations are in different genes (intergenic complementation). Complementation
may also occur if the two mutations are at different sites within the same gene (intragenic
complementation), but this effect is usually weaker than that of intergenic complementation. When the
mutations are in different genes, each strain's genome supplies the wild-type allele to "complement" the
mutated allele of the other strain's genome. Since the mutations are recessive, the offspring will display the
wild-type phenotype. A complementation test (sometimes called a "cis-trans" test) can test whether the
mutations in two strains are in different genes. Complementation is usually weaker or absent if the
mutations are in the same gene. The convenience and essence of this test is that the mutations that
produce a phenotype can be assigned to different genes without the exact knowledge of what the gene
product is doing on a molecular level. American geneticist Edward B. Lewis developed the complementation
test.
Complementation test
complementation test, in genetics, is a test for determining whether
two mutations associated with a specific phenotype represent two different
forms of the same gene (alleles) or are variations of two different genes. The
complementation test is relevant for recessive traits (traits normally not
present in the phenotype due to masking by a dominant allele). In instances
when two parent organisms each carry two mutant genes in a homozygous
recessive state, causing the recessive trait to be expressed, the
complementation test can determine whether the recessive trait will be
expressed in the next generation.
Bacterioph
age
A bacteriophage also known informally as
a phage, is a virus that infects and
replicates within bacteria and archaea. The
term is derived from Ancient
Greek φαγεῖν (phagein) 'to devour'
and bacteria. Bacteriophages are
composed
of proteins that encapsulate a DNA or RNA
genome, and may have structures that are
either simple or elaborate. Their genomes
may encode as few as four genes
(e.g. MS2) and as many as hundreds
of genes. Phages replicate within the
bacterium following the injection of their
genome into its cytoplasm.
T4 Phage
• A series of 7 virulent phages which
infect E. coli. The T-even phages T2,
T4; (BACTERIOPHAGE T4), and T6, and
the phage T5 are called autonomously
virulent because they cause cessation
of all bacterial metabolism on
infection. T stands for type.
• T4 phage is a Enterobacteria virus. T4
is a species of bacteriophages that
infect Escherichia coli bacteria. It is a
double-stranded DNA virus in the
subfamily Tevenvirinae.
• Other enterobacteria viruses are T1,
T2, T3, T5, T6 and T7.
• The infection of Escherichia coli by T2
and T4 bacteriophages has been
widely studied.
T4 phage genome
• Phage T4 has provided countless contributions to the paradigms of genetics and biochemistry. Its
complete genome sequence of 168,903 bp encodes near 300 gene products.
• T4 has a total of 289 probable protein-encoding genes, 8 tRNA genes, and at least 2 other genes
that encode small, stable RNAs of unknown function.
• Properties of the approximately 156 genes that have been characterized by mutation and/or by
the properties of cloned gene products.
• One of them is gene group, name r gene. The r gene encodes a peptide of 97 amino acids (Mr =
11.1 kD; pI = 4.8) that probably is secreted into the periplasmic space. This gene is widely
conserved among T-even phage (T2, T4).
• Genetic studies in the 1940s to 1960s, mainly using T2 and T4, defined three r loci, rI, rII, and rIII,
while subsequent studies implicated three more loci, rIV, rV, and rVI. T4 can sense superinfection
(A superinfection refers to a viral attack on an already infected cell) and responds by delaying lysis
and achieving an order-of-magnitude increase in burst size using a mechanism called lysis
inhibition (LIN).
• Mutants at the rII locus are unable to conduct LIN. They either failed to produce plaques (in E. coli
K12) or produced abnormal plaques (in E. coli B), depending on the strain of E. coli used as hosts.
r mutant phage
• The uniqueness of rII mutants, namely, their inability to form plaques on E. coli K12 was first recognised by
Seymour Benzer during 1950–52 while working in the laboratory of André Lwoff in Paris. Benzer realised that
this property could be exploited to analyse the nature of genes using the rII mutants as a model system.
• Beginning in 1954, Benzer put the T4 rII system to use, creating and crossing hundreds of r mutants and
developing an increasingly detailed map of the structure of the rII gene. In his early work, he identified two
separate but very close loci within the rII region (rllA and rllB), which he suggested were nucleotide
sequences that encoded different polypeptides; he called these "cistrons".
• Benzer identified a number of different types of r mutants. Some he classified as deletions, others as point
mutations.