CYTOGENETICS

Cytogenetics is a branch of genetics that is concerned with how the chromosomes

relate to cell behaviour, particularly to their behaviour during mitosis and meiosis.
Techniques used include karyotyping, analysis of G-banded chromosomes, other
cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent
in situ hybridization (FISH) and comparative genomic hybridization (CGH)

HISTORY OF CYTOGENETICS

After his origin, man living/life is a different parts of the cell

began to think about the question still unsolved. and life processes came to
things around him the One of the most our knowledge.
earth, the sky, the important properties of
mountains, the rivers, the life is continuity. It is Following the
animals, the plants and known that life originates rediscovery of Mendels
about himself. Whatever from the life already laws of inheritance in
knowledge he could existing. 1900, the science of
gather, he transferred it to Genetics began to take
his progeny/off-spring, After the invention of shape; Genetics sought to
and thus there was an microscope in the 17th understand the basis and
accumulation of century, the internal the inheritance of
knowledge about structure of plants and variation present in the
various things. animals could be known. organisms.
In 1665, Robert Hooke
Since long, man has been showed that the cork was The concepts of cytology
thinking about life and made of numerous units and genetics were
still it is not possible to like those in honey comb, combined together to
fully understand the and he named these units form the science of
mystery. Various thinkers as cells. It was the Cytogenetics. This fusion
were born on the earth beginning of the science came about with
and various religions of cytology which seeks realization
flourished which gave to understand the that units or factors
various concepts of structural organisation of (genes) that govern
the origin of life. cells. different characters were
in fact situated in the
Living organisms are Leeuwenhoek observed chromosomes.
made up of the same bacteria and protozoa
atoms and elements as with the help of Nucleic acid from cells
nonliving things. But microscope and thus was isolated by Miescher
what thing/force makes micro-organisms could be in 1869, but only in 1944,
them (atoms, elements, known. Through the work Avery and his associates
molecules) to function as of numerous investigators, showed that DNA
(deoxyribonucleic acid) is Robert presence of sex in plants.
the genetic material. The Hooke (1635-1703) He demonstrated that in
structure, replication, observed the section of maize, seeds are not
function and other aspects cork by a primitive type produced unless pollen is
of nucleic acids were of microscope and found applied to the pistil. He
subsequently studied and that it was made up of concluded that pollen is
discovered by different small hollow units like the male element, while
workers. honey comb. He termed pistil is the female
the structural unit as cell. element.
Elucidation of genetic In those days
code was achieved microscopes could
during the 1960s. Gene magnify the objects up to
was artificially 100-200 times.
synthesized for the first
1761-1766:
time in 1975 by Khorana 1672:
and coworkers.
Joseph Gottlieb Kolreuter
Nehemiah
(1733-1806) published
The science of Grew (1628-1711)
the information on his
Cytogenetics is published microscopic
work of plant
advancing at a anatomy of plants and
hybridization. He made
tremendous rate, and it advanced a theory that the
hybrids between different
covers all the aspects of stamen corresponds to
varieties of tobacco and
life-improvement of male, while pistil
between some plant
plants, resistance to corresponds to female
genera. By using
various diseases and pests reproductive organ.
reciprocal crosses, he
in plants, improvement of
1674: showed the equal
animals, cure of genetic
contribution of male and
disorders in human,
Anthony van female parents to their
production of rare and
Leeuwenhoek offspring.
essential enzymes and
(1632-1723) improved
other substances.
the microscope by the 1809:
It is hoped that the technique of grinding the
Jean Baptiste Lamarck
molecular cytogenetics lens. He reported the
(1744-1829) proposed a
will do much for the studies on free cells such
theory of evolution
welfare of human beings. as protozoa and bacteria
known as theory of
But, to appreciate the and thus opened the door
inheritance of acquired
route this science has to a new world of
characters.
covered, the chronology microorganisms. He also
of various important studied blood cells.
Briefly, the main points
developments is of his theory are :
1694:
presented here.
Rudolf Jacob Camerarius
1665:
(1665-1721) showed the
1. Variation in an
individual is brought
about by:
(a) conscious effort,
(b) reaction to
environment, and
(c) use and disuse of the
organ.
2. Heredity carries
forward the changes that
are acquired during the
life time of the individual.
1828:
Robert Brown
(1773-1858) studied plant
cells and discovered
nucleus in Tradescantia.
He described it as a
central feature of living
cells.
1835:
Hugo von Mohl
(1805-1872) described
cell division and showed
that cells arise through
partition walls formed
between preexisting cells.
1838-39:
Matthias Jacob
Schleiden (1804-1881)
and Theodor Schwann
(1810-1882) put forth the
cell theory on the basis of
accumulated
experimental results.
The cell theory states
that:
1. The cell is the smallest
structural element of a
multicellular organism
and as a unit, it is itself an
elementary organism.
2. In a multicellular
organism, every cell has a
specific function to
perform, and represents a
working unit.
3. A cell can only be
produced from another
cell by cell division.
1852-1853:
Rodolf Ludwig Carl
Yirchow (1821-1902)
gave the theory of cell
lineage.
1859:
Charles
Darwin (1809-1882)
published the Origin of
Species that contains the
careful observations in
plants and animals made
by him. He put forward a
theory of evolution called
the theory of natural
selection.
This theory states that:
(a) Variation is constant
in nature,
(b) Over production of
offspring brings about
struggle for existence,
(c) Natural selection
operates by elimination of
the unfit and survival of
the fit, and
(d) Heredity continues the
line of survivors.
Darwin was of the
opinion that the
hereditary materials from
different body organs
were transported by blood
stream to the sex organs
where they were
assembled into gametes.
These hereditary
materials were called
gemmules or pan-genes.
After fertilization, these
gemmules separated out
to different parts of the
body during development.
Thus Darwin attempted to
give a physical basis to
the Lamarcks idea of
inheritance of acquired
characters. Darwin also
recognized the
spontaneous changes
which he called sports.
1865:
Gregor Johann Mendel
(1822-1884), an Austrian
monk working as a
teacher at the Augustinian
Monastery at Briinn (now
Berne in Czechoslovakia),
started hybridization
work in garden pea
(Pisumsativum) in 1857
and presented his results
entitled, Versuche uber
Pflanzen Hybriden (=
Experiment in Plant
Hybridization) at the
meeting of Briinn Society
for the Study of Natural
Science on 8th February
and 8th March, 1865.
The paper was published
in the proceedings of the
Brunn Society for the
Study of Natural Science
in 1866. This paper
became the basis of the
modern science of
genetics. Mendel
considered that the
characters are governed
by certain units or factors
which arc transmitted
from parents to offspring
through gametes.
He explained the
inheritance on
numerical basis, and the
laws of inheritance he
proposed are known as
Mendels Laws which
are:
(1) The Law of
Segregation, and
(2) The Law of
Independent Assortment.
But the findings of
Mendel were left
neglected for many years.
In 1900, three scientists Louis Pasteur (1822-1895)
(Correns, Tschermak and working with
de Vries) independently microorganisms,
discovered the Mendels demonstrated that life
work. arises only from
preexisting life.
Mendel also studied
hybridization in the 1875-76:
hawkweed (Hieracium)
and communicated the Wilhelm August Oscar
results to the meeting of Hertwig (1849-1922)
Brunn Society on 9th studied reproduction in
June, 1869. This paper sea urchin and discovered
entitled, Uber einige aus that fertilization involves
Kunstlicher Befruchtung the union of sperm and
gewonnen Hieracium egg.
Bastarde (= On
1882:
Hieracium Hybrids
Obtained by Artificial
Walter
Fertilization) appeared in
Flemming (1843-1915)
the proceedings in 1870.
described cell division in
salamander and also in
However, the results on
corneal epithelium of
Hieracium differed from
humans. He demonstrated
those on Pisum. The
that the chromosomes
reason was the
divide longitudinally
parthenogenetic
during nuclear division.
behaviour of Hieracium,
He coined the terms
which was discovered
mitosis and Chromatin in
some 30 years later.
1882.
1869:
1883:
Fredrick Miescher
Francis Galton
(1844-1895) reported the
(1822-1911) developed
presence of nucleic acids
the concept of
in cells. He called
regression which is a
it nuclein. He analysed
measurement of degree of
the sperm head of Rhine
resemblance or relatives.
winter salmon sperm and
He also founded the study
found nucleic acid and
of human heredity. He
protamine.
coined the term eugenics
1875: which deals with the
improvement of human material was separated Strasburger observed
genetic material. into germplasm from the reduction of chromosome
rest of the body, the number in plants during
Eugenics has been somatoplasm. gamete formation.
divided into two
aspects: Any change affecting 1890:
somatoplasm and not
(1) Negative eugenics (to reaching the germplasm Rimpau produced triticale
decrease the frequency of is not heritable. Thus he from a cross of wheat
harmful genes), and rejected the theory of with rye.
inheritance of acquired
(2) Positive eugenics (to 1891:
characters. He made
increase the frequency of,
experiments using
beneficial genes). Hermann Henking
domesticated mice whose
(1858-1942) observed
tails were cut off at young
1883: that during
stage. After repeating the
spermatogenesis in the
Edouard van experiment up to 22
hemipteran insect
Beneden (1845-1910) generations involving
Pyrrhocoris, one
studied spermatogenesis, 1592 individuals, he
chromatin body goes to
oogenesis and found that no mice was
only one pole during
fertilization in round born without tail.
anaphase II and thus half
worm of the sperms carry this
1884:
(Ascarismegalocepliala). chromatin body, while
In 1883, he demonstrated half of sperms are lacking
Eduard Strasburger
that gametic chromosome it. Henking termed this
(1844-1912) described
number is half of that body as the X-
fertilization in
present in the body cells. body which was later
angiosperms and
He showed that the egg called the X-chromosome
demonstrated that the
and sperm contribute or sex chromosome.
principles of fertilization
equal cells. He showed
described by Hertwig for
that the egg and sperm He also found that the egg
animals was true for
contribute equal number fertilized by one type of
plants as well.
of chromosomes during sperm produced female,
fertilization to form the 1886: while the egg fertilized by
zygote. the other type of sperm
Ernst Abbe (1840-1908) produced male insect.
1883-1885: produced the oil This mechanism is now
immersion objective lens called the XO mechanism
August Weismann
which could increase the of sex determination.
(1934-1914) put forth the
resolving power of the
germplasm theory. He 1892:
light microscope.
supposed that very early
in the development of the 1887-1888: Theodor Boveri
individual, the hereditary (1862-1915) studied
meiosis in Ascaris and
described synapsis of
chromosomes. He also
contributed to the
formulation of the
chromosome theory of
inheritance.
1896:
Edmund Beecher Wilson
(1856-1939) organised
the cytological and
embryological
knowledge in his classical
book The Cell in observed sudden heritable
Development and
Inheritance. and coined the term
1900:
Rediscovery of Mendels In 1901, he published the
laws and recognition of
their significance by three
scientists, Correns,
Tschermak and de Vries
occurred.
Carl Franz Joseph
Correns (1864-1933), a
German botanist, did
hybridization
experiments in maize,
peas, beans and in some
other plants and reported
that his results were
similar to those obtained
by Mendel in 1865 in
garden peas.
Erich von Tschermak
(1871-1962), an Austrian
botanist, studied the
effects of crossing on
vigour in peas and got
similar results as Mendel William Bateson
had obtained. Hugo de (1861-1926) coined the
Vries (1848-1935), a terms F1, F2, allelomorph,
Dutch biologist, homozygote and
rediscovered Mendels heterozygote.
laws through his
hybridization 1902-1903:
experiments.
Walter S.
1901: Sutton (1876-1916)
studied reduction division
Hugo de Vries, during and recognized
studies of evening parallelism between the
primrose behaviour of
(Oenotheralamarckiana), chromosomes during
meiosis and the
variations in this plant Mendelian segregation of
genes. In 1903, he
mutation for sudden published his second,
heritable changes. paper in which he
elaborated the
chromosome theory of
book Die heredity. He described
Mutationstheorie (The that chromosome pairs
Mutation Theory) in (bivalents) segregate
which he compiled the randomly giving rise to
data on mutations. independent assortment
However, the mutations of genes.
in Oenothera reported by
de Vries are the changes The work of Sutton led to
in chromosome structure the combination of
and number and not gene cytology and genetics
or point mutations. into a new discipline
called cytogenetics.
1902: The chromosome
theory of inheritance is
C.E. McCiung observed
also called the
X-chromosomes in many
Sutton-Boveri theory of
insects and suggested that
chromosomal
these chromosomes are
inheritance. The
associated with sex
parallelism between
determination.
genes and chromosomes
may be briefly
1902:
Summarised as follows.
(1) During inheritance,
the genes and the
chromosomes both
behave like individual
units. Each pair of
chromosomes can be seen
to be different from other
pair and each
chromosome has
individuality. Similarly
each gene has an
individuality.
(2) The inheritance
pattern can be explained
on the assumption that the
genes in an individual
occur in pairs (allelic pair)
and that one member of
each pair was contributed
by one parent, while the
other member of the
allelic pair was provided
by the other parent.
Similarly, chromosomes
in an individual also
occur in pairs, each
member of which has
been derived from one of
the two parents of the
individual.
(3) Each gamete contains
only one member of each
pair of chromosomes.
Similarly, each gamete
contains one member of
each pair of alleles of
genes. In Mendels
principle, segregation of
one allele occurs from its
pair and each allele enters
in separate gamete.
Similarly each
chromosome separates From the studies of male
from its homologous pair protenor (squash bug),
during meiosis and is E.B. Wilson proved the
included in a separate importance of
gamete. X-chromosome in sex
determination. He found
1903: that females of Protenor
have 14 chromosomes,
W.L.
while males have only 13
Johannsen (1857-1927)
chromosomes. In females,
coined the terms gene,
7 bivalents are formed
genotype and phenotype.
and all the eggs receive a
He studied the effects of
haploid set of
selection for seed weight
chromosomes. In males, 6
in Princess variety of
bivalents and one
bean (Phaseolus vulgaris),
unpaired chromosome
and observed that
(univalent) were formed.
progenies derived from
heavier seeds were At anaphase I, the odd
characterized by greater chromosome divided and
mean weight than the each pole received 7
progenies from the lighter chromosomes. At the
seeds. second meiotic division,
the unpaired chromosome
In 1903, he gave the
passed to one of the two
concept of pure lines
daughter cells. Thus two
which is defined as the
types of spermatozoa
progeny of a single
were formed in equal
self-fertilized
numbers, 50% with 6
homozygous
chromosomes and 50%
individual. Thus a pure
with 7 chromosomes.
line is a strain
homozygous at all loci. Fertilization of the egg (7
chromosomes) by a
1904:
sperm with 7
chromosomes produced a
T.H. Montgomery
female bug with 14
assigned the term
chromosomes, while
autosomes to the
fertilization of the egg
chromosomes which are
with a sperm bearing 6
alike in male and female,
chromosomes produces a
and other than sex
male (with 13
chromosomes.
chromosomes). In
1905: organisms with male
heterogamety, the sex Number and position of that the male fly has X
chromosome limited to chiasmata in early and Y chromosomes.
the male sex was termed diplotene indicate the
Y chromosome by number and the place of 1914:
Wilson in 1909. crossing over occurred.
J. Belling (1866-1933)
Thus the partial chiasm
1906: working for the breeding
type theory explains the
programme of Florida
relationship between the
R.C. Punnet and W. velvet bean
genetic crossing over and
Bateson reported the first (Stizolobiumdeeringianu
the cytologically visible
case of linkage. The term mBort.), Belling observed
chiasmata.
genetics was coined by 50% pollen abortion and
Bateson in this year. The 1910: 50% seed abortion in this
first case of sex-linked plant. He termed it semi
inheritance was found by Thomas Hunt Morgan sterility and explained it
Doncaster and Raynor in (1866-1945) discovered on the basis of segmental
currant moth the white eye mutant in interchange between
(Abraxasgrassulariata) Drosophila and sex non-homologous
but female was linkage. In this fly, male chromosomes.
heterogametic. is heterogametic, while
female is homogametic. 1916:
1908: In 1911, he proposed that
Winkler produced
genes are arranged on
Gates was the first to tetraploidSolanumnigrum
chromosomes in a linear
observe a ring of from shoots arising from
order.
chromosomes in callus tissue. Calvin
Oenotherarubrinervis. The genes present on a Blackman Bridges
chromosome are linked, (1889-1938) published
1909: his work on the X
and linkage breaks due to
crossing over. In 1912, he chromosome
Frans Alfons Janssens
presented linkage maps of non-disjunction in
(1863-1924) advanced
Drosophila. In 1933, Drosophila, which
the Partial chiasma-type
Morgan received Nobel presented the first direct
theory of crossing over.
prize in Medicine and proof that genes are
According to this theory,
Physiology and thus he is present in chromosomes.
chiasma is the result of
the first geneticist to be
crossing over (exchange) 1917:
honoured by this prize.
during meiosis. At the
point of crossing over, Allen reported the first
1912:
during meiosis, a case of chromosomal
cross-shaped Stevens observed the sex difference between the
configuration (chiasma) chromosome of sexes in a plant, the
is formed when the paired Drosophila using liverwort
homologues become acetocarmine smear (Sphaerocarposdonnellii)
separated. technique and reported where the female
gametophyte is 7 + X, and 12 trisomies were Rumexacetosa; by
the male gametophyte is 7 identified and Blackburn in Melandrium
+ Y. characterized by and by Winge in
Blakeslee and his Humulus and Vallisneria.
1917, 1919: associates. With Belling,
he reported that off type In 1923, C.B. Bridges
C.B. Bridges discovered developed the gene
plants had extra
deficiency in 1917 and balance theory of sex
chromosome in Datura
duplication in 1919 in determination. He found a
(trisomies).
Drosophila melanogaster. triploid (3x) Drosophila
He observed various female and mated it to a
1921:
chromosome normal male. In the
configurations in progeny, eight sexually
A.H. Sturtevant, using
trisomies during meiosis. distinct kinds of
genetic tests in
(In 1924, he coined the individuals were obtained.
Drosophila melanogaster
terms primary trisomies He analysed them
and D. simulans,
and secondary cytologically and
recognized inversion.
trisomies). compared the sex.
Small inversions were
also designated as
1922: It was found that the Y
crossover suppressor (C).
chromosome in
Later the CIB stock was LV. Morgan described Drosophila is not
used by Muller in the attached necessary for maleness.
detection of mutations. X-chromosomes in He concluded that every
Drosophila females individual has in its
Such a CIB stock has a
which regularly showed genotype both male and
crossover reducer in X
the unusual transmission female potentialities. The
chromosome associated
pattern of the sex-linked development in a
with lethal (l) and has a
recessive y (yellow body) particular sex is
Bar eye (B) as a dominant
gene. This confirmed the determined by the
marker. The cross-over
observations of Bridges, balance of the genes, i.e.,
suppressor behaves like a
and showed a direct the preponderance of
dominant gene. (In
correlation between gene male tendency or of
1926, Sturtevant
and chromosome female tendency genes.
discovered that the
behaviour.
dominant C genes were
He also found that ratio
inversions). 1923: between the number of X
chromosomes and the sets
Albert Francis Blakeslee Cases of chromosomal
of autosomes (X/A ratio)
(1874-1954) discovered differences between sexes
in the fertilized egg
trisomies in plant in different plants were
decides the sex. In
Daturastramonium reported by Santos in
Drosophila, the X/A ratio
(Jimson weed) in 1921. dioecious water weed
1.00 develops into female,
This plant has 12 pairs of (Elodea gigan-tea); by
chromosomes, and all the Kihara and Ono in
while the ratio 0.50
develops into male.
The ratio falling between
1.0 and 0.50 produces an
individual intermediate
between male and female,
i.e., an intersex. The X/A
ratio above 1.00 produces
super-female while the
ratio below 0.50 produces
super male.
1924:
Robert Joachim Feulgen
(1884-1955) developed a
technique of staining of
chromosomes. With
Rossenbeck, he described
the technique for the test
of the presence of DNA in
cells. It is now called the
Feulgen reaction. On
gentle hydrolysis, the
pentose sugar
(deoxyribose) of DNA
liberates aldehyde which
reacts with the basic
fuchsin and gives
purplish colour.
1925:
Anderson gave the proof
that crossing over occurs
at 4-stand stage, through
the use of attached X
chromosome stock in
Drosophila. 1925, 1926 :
J. Belling in 1925, coined
the term interchange that X-rays can induce
for translocation. With
Blakeslee in 1926, he
coined the term tertiary technique to detect the
trisomic in which the induced mutations in the
extra chromosome is a X chromosome. For this
trans-located work, Muller was
chromosome. awarded the Nobel prize
in 1946.
1925:
1928:
Supernumerary
chromosomes in maize L.J. Stadler discovered
were discovered by Y. that X-rays can induce
Kuwada in 1925 and A.E. mutations in plants. Emil
Longley in 1927. The Heitz, using staining
term B-chromosome reactions, found two
was given by Randolph in types of chromosomal
1928 to such accessory regions, (i) light staining
chromosomes in plant region, and (ii) dark
and animal species, while staining region during
the normal chromosomes interphase, early
were prophase and telophase.
called A-chromosomes. In 1928-29, he coined the
term euchromatin for
light staining region and
1926: the term heterochromatin
for dark staining region.
Curt Stern analysed
cytologically the first 1929:
translocation in
Drosophila and showed Barbara McClintock
that a piece of X (1902-1992) extensively
chromosome was studied maize
attached to one end of the cytogenetics and for the
Y chromosome. Hitoshi first time made the
Kihara (1893-) with Ono morphological
coined the terms identification of maize
autopolyploid and chromosomes in 1929. By
allopolyploid. using trisomies, she
associated each
1927: chromosome with a
particular linkage group.
Herman Joseph Muller
(1890-1967) discovered 1930:
mutations in Drosophila. McClintock showed that
He used the CIB- a cross (+) shaped
configuration is formed at
pachytene due to pairing
of homologous regions in
the heterozygous
interchange. This work
provided evidence of an
exchange of terminal
segments of
non-homologous
chromosomes.
H. Kihara in 1930,
developed a method
called genome analysis
for detecting the diploid
ancestors of allopolyploid
species. He analysed the
genome of bread wheat
(Triticumaestivum)
which is an allohexaploid
species, consisting of full
chromosome complement
of three diploid species,
viz., T. monococcum,
Aegilopsspeltoides and
Aesquarossa.
He named the three
genomes as A, B and D
genomes. The genome
analysis involves crossing
between polyploids and
diploids and studying the
chromosome pairing
during meiosis in the
hybrids.
1931:
Emil Heitz showed an
association between
number of nucleoli in
interphase with the
number of particular type
of chromosomes
(nucleolar chromosomes).
Curt Stern, using (intergenic) region
translocations between occurs,
the X and Y
chromosomes presented (iv) During synthesis of
the proof that genetic inter-chromomeric
crossing over is regions, new connections
accompanied by an occur between the
exchange of parts chromomere of one
between homologous chromosome and the
chromosomes. chromomere of its
homologue.
H.B. Creighton and B.
McClintock 1932:
demonstrated in maize
Ernst August Friedrich
that genetic
Ruska and Knoll
recombination was
published the description
accompanied by a
of electron microscope
reciprocal exchange of
which consisted of an
chromatin material
electron source and two
between the two
magnifying lenses. In
homologous
1934, Ruska described an
chromosomes and thus
improved version of the
presented a cytological
electron microscope with
proof of crossing over.
a condenser lens.
J. Belling in 1931 and
Cyril Dean Darlington
1933 put forth a
advanced the precocity
hypothesis known as
theory which says that
Bellings Hypothesis to
meiotic prophase starts
explain crossing over.
precociously before the
According to this chromosomes are in
hypothesis: duplicate state. However,
the theory became later
(i) Homologous invalid.
unduplicated
chromosomes are coiled 1934:
together,
B. McClintock
(ii) Replication of introduced the term
chromosomes occurs nucleolar organizer for
first, the chromosome region
which is active in the
(iii) Then the replication formation of nucleolus.
of inter-chromomeric
1936: discovered that chemicals
can induce mutations. In
Curt Stern discovered 1947, they used sulphur
mitotic (somatic) crossing and nitrogen mustards to
over. induce mutations.
1937: 1944:
Blakeslee and Avery Oswald T. Avery
discovered that (1877-1955) and
polyploidy can be associates (MacLeod, and
induced by the use of McCarty) followed the
colchicine, an alkaloid experiments of Griffith
obtained from the plant conducted in 1928, and
Colchicum autumnale. found that the genetic
material is DNA. They
1939:
used the pathogenic
(smooth) and
C.D. Darlington coined
non-pathogenic (rough)
the term misdivision of
strains of Pneumococcus
centromere for
(Diplococcuspneumoniae)
transverse divisions of
for transformation studies.
centromere giving rise to
Non- pathogenic strain
iso-chromosomes.
was transformed into
pathogenic and they
1941:
found that DNA was
Beadle and Tatum involved in
proposed transformation.
the one-gene-one-enzy
me hypothesis which 1946:
was later
Lederberg and Tatum
named one-gene-one-p
discovered genetic
olypeptide
exchange in bacteria.
chain hypothesis.
Artificial induction of
1949:
mutations by ultraviolet
light was reported by Delbruck and Bailey
Stadler and Holaender showed genetic exchange
and Emmons. in bacteriophage. Kelner
discovered photo
1944:
reactivation process of
repairing the damage
C. Auerbach and J.M.
caused by ultraviolet light
Robson, working with
(290-310 nm wavelength).
aliyl-isothiocyanate
Murray L. Barr (1908-)
together with Bertram
discovered sex chromatin
in interphase nucleus of
human females.
The sex chromatin is
absent in males. The
small stainable body is
called Barr
body. Now it is known
that the Barr body is one
hetero-chromatinized X
chromosome.
1950:
B. McClintock
discovered controlling
systems in maize. The
most famous is the
AC-DS system
discovered by her in 1950.
The AC (activator) acts as
regulator and DS
(dissociation) cannot
function in absence of AC.
Both the loci can change
their position on a
chromosome
(transposition). However,
DS when changes its
position, it induces a
breakage in the
chromatid.
Thus presence of both the
loci in the same nucleus
causes spontaneous
chromosome breakage. In
presence of AC, DS
affects the gene lying
adjacent to it, which
expresses as a recessive
mutant. McClintock gave
full data of AC-DS
controlling elements
(transposable elements)
even before the structure
of DNA was known. Her
work was recognized and
she was awarded Nobel
prize in 1983.
John Albert Levan (1905-)
together with Joe Hin
Tjio in 1950 developed a
technique of squashing
for study of mitotic
chromosome. He used
oxyquinoline during
fixation of the material
and got that the
chromosomes were
contracted and spindle
destroyed. They reported
chromosome number in
several plant species.
1951:
H. Kihara formulated a
technique of production
of seedless fruits in water
melons. This method
involves the induction of
polyploidy and crossing
of an autotetraploid with a
diploid plant to produce
triploids. The triploids
produce seedless fruits
because the gametes are
sterile.
1952:
A.D. Hershey and M.
Chase, by using
radioactive 35S and 32P
labelling of protein and
DNA, respectively, in
T2bactriophage showed
that DNA is the genetic
material.
N.D. Zinder and J.
Lederberg discovered the
phenomenon of
transduction. In Crick and Wilkins in
transduction,
bacteriophage transfers
genes from the previously
infected host bacterial
cells to the newly infected
ones.
J. Lederberg and
associates discovered E.
coli sex factor (F) as a
transmissible factor.
E. Chargaff discovered
the A-T and G-C ratios in
DNA.
T.C. Hsu developed the
technique of osmotic
shock for the study of
mammalian
chromosomes.
1953:
J.D. Watson and Francis
Harry Compton Crick
(1916-) proposed the
double helix model of
DNA. This model was
based on the results of
X-ray diffraction of DNA
studied by Franklin and
Wilkins, and on chemical
analysis data.
This double stranded
helical model of DNA
structure is universally
accepted and is popularly
known as Watson-Crick
Model. For this
achievement, Nobel prize
was awarded to Watson,
1962.
1955:
S.W. Brown and D.
Zohary, studying crossing
over in stocks carrying
chromosomal deficiency
in Liliumformosanum
showed 1 : 1 ratio
between cytologically
visible chaismata and
genetic crossing over.
They demonstrated the
direct relationship
between crossing over
and chiasma formation
and presented the proof
for the support of partial
chiasma type theory of
crossing over originally
proposed by Janssens in
1909.
1956:
E.R. Sears, using
cytogenetical techniques
transferred gene for leaf
rust resistance from the
wild grass
Aegilopsumbellulata (2x
=14) to common wheat
(Triticumaestivum, 6x =
42) variety Chinese
Spring. He made a cross
between tetraploid
Emmer wheat (T.
dicoccoides, 4x = 28) and
the wild grass (Ae.
umbellulata) carrying leaf
rust resistance gene.
Chromosomes of this
triploid hybrid (3x = 21)
were doubled by using
colchicine to produce a
hexaploid plant (fix = 42).
The grass-emmer hybrid
was then crossed to the
susceptible common
wheat variety Chinese
Spring. The
resulting grass-emmer- muton in the study of
wheat hybrid contained fine structure of gene.
35 chromosomes of
common wheat and 7
chromosomes of the wild
grass.
The hybrid plant was
back crossed to Chinese
Spring. In the second
back cross generation, a
plant was obtained that
looked like Chinese
Spring and was rust
resistant. This plant had
43 chromosomes (42
chromosomes of Chinese
Spring and one
chromosome of wild
grass).
It was then irradiated with
X-rays before flowering,
and the pollen were used
to pollinate the plants of
Chinese Spring. In the
progeny, one resistant
plant was obtained that M. Meselson and EW.
contained 42 Stahl using 14N and 15N,
chromosomes and proved that DNA
possessed all the replication occurs in a
characteristics of Chinese semiconservative
Spring. A segment of the manner.
grass chromosome
carrying the rust Crick gave the concept of
resistance gene was trans adopter molecule (tRNA)
located to the wheat with an anticodon.
chromosome.
1959:
1957:
J. Lejeune discovered that
S. Benzer gave the Downs syndrome in
concept of human is a trisomic,
cistron,recon and while C.E.
Ford discovered that
Turners syndrome is a
The cistron is the
monosomic. In 1959,
functional unit, muton
chromosomal aberrations
is the basic unit of gene
were discovered in
mutation, while the
human.
recon is the smallest
unit of recombination.
1961:
J.H. Taylor, P.S. Woods
S. Benzer discovered the
and W.L. Hughes
hot spots where
demonstrated semi
mutations are
conservative replication
concentrated.
of eukaryotic
chromosome, studying Driskell and Adelberg
Vicia faba root tip discovered that E. coli F
chromosomes using factor is a DNA plasmid.
radioactive precursor of
DNA, 3H thymidine. Francis Jacob (1920-)
together with J. Monod
Ingram for the first time gave the Operon model
demonstrated that a of gene regulation. An
mutation in a gene operon consists of a
changes an amino acid in regulator, a promoter, an
the corresponding operator and genes. For
protein. this work, Jacob and
Monod together with
1958:
Lwoff were awarded the
Nobel Prize in 1965.
M.W. Nirenberg and J.H.
Matthei broke the genetic
code.
F.H.C. Crick and
associates furnished the
evidence through the
study of reading frame
shift mutations that
codon is of triplet
nature.
J. Marmur and Doty
discovered DNA
renaturation and
established the specificity
and feasibility of nucleic
acid hybridization
reactions.
Mary Francis Lyon in
1961 made detailed study
of sex chromatin and
developed a hypothesis
known as Single active Arber provided the first
X-Hypothesis of dosage evidence for the existence
compensation in human
and mammals. This
hypothesis is popularly
known as Lyon 1962-63:
Hypothesis.
According to this
hypothesis, single X
chromosome in males and
one of the two X
chromosomes of females
are active like autosomes.
But one X chromosome
of the female is
inactivated by the process
of
heterochromatinization. R. Holliday gave the
Hybrid DNA model of
crossing over.
The inactivation occurs
early in embryonic 1965:
development. The
inactivated X H.L.K. Whitehouse gave
chromosome may be a polaron Hybrid DNA
paternal or maternal in model of crossing over,
origin in different cells of
Holley and associates
the same individual. Once
reported the first
an X chromosome is
sequence of transfer RNA
hetero-chromatinized, the
(tRNA).
same chromosome is
always
Ernest Joseph DuPraw
hetero-chromatinized in
(1931-) developed a
the cells produced from
technique of whole
that cell.
mount electron
microscopy to study the
1962:
eukaryotic chromosomes.
Silver and Ozeki From the studies of
discovered, the human mitotic metaphase
colicinogenic factor chromosomes, he gave
(Col factor) as a DNA the Folded Fibre Model
plasmid. of eukaryotic
chromosome structure in
1965.
of DNA restriction According to this model,
enzymes. each un-replicated
chromosome (unit
chromatid) is loosely
packed in transverse and
Margit M.K. Nass (1931-) longitudinal folded
together with Sylvan spirals of a single 20 nm
Nass discovered the fibre. The chromosome
presence of DNA in (chromatid) contains a
mitochondria. long single DNA double
helix in a super-coiled
1964:
condition held by protein
molecules.
R.J. Britten and Waring
discovered the repetitious
1966:
DNA in eukaryotes.
Genetic code was Roberts discovered the enzymes for chromosome
elucidated by H.G. rho (p) factor associated mapping. In 1978, Nobel
Khorana, Nirenberg and with transcription prize was awarded to
Ochoa. termination. Nathans, Smith and Arber
for this work.
Crick proposed 1970:
the Wobble 1974:
Hypothesis to explain M.L. Pardue and J.G.
the degeneracy of genetic Gall showed the Charles Allen Thomas Jr.
code (same amino acid DNA/DNA and (1927-) together with
specified by more than DNA/RNA hybridization Wilson discovered wide
one codons). According in situ. spread occurrence of
to wobble hypothesis, palindromes. The
1970: palindromes are the
there occurs unusual base
paring between the sequences that read the
T. Caspersson and
3rd base of the codon (3 same both backward and
associates developed the
end) and the first base of forward.
fluorescent and Giemsa
anticodon (5 end). This
banding technique of 1975:
position (3 end of codon
eukaryotic chromosomes.
and 5 end of anticodon)
Har Gobind Khorana f
is called the wobble D. Baltimore; and Temin 1922-) for the first time
position. and Mizutani discovered made the artificial
the enzyme reverse synthesis of a gene.
1967:
transcriptase in
retroviruses. 1977-78:
Gellert discovered the
enzyme polynucleotide
1972: Sanger and various other
ligase that joins DNA
investigators discovered
fragments together. Singer and Nicolson overlapping, included and
introduced the idea that interrupted genes (split
1968: biological membrane is a genes).
2- dimensional fluid.
W. Gilbert and D.
1981:
Dressier proposed the
1972-73:
rolling circle model of
Anderson and associates
DNA replication. Stanely N. Cohen (1917-) reported the first
together with Chang mitochondrial DNA
1969: developed the technique sequence.
of DNA cloning.
A. Travers and Burgess
1982:
characterized the sigma
1973:
factor associated with
Bloom and Carbon
RNA polymerase. Daniel Nathans (1928-) revealed the molecular
and coworkers, for the structure of centromere.
first time used restriction
1983:
Evans and associates
discovered cyclins.
Murray and Szostak made
a synthetic chromosome
by putting together the
functional elements
needed by a chromosome.
Bender and associates
described chromosome
walking.
1984:
Feldherr and associates
demonstrated the ability
of the nuclear pores to
transport rigid structures.
cyclins in M-phase
kinase.
Williamson, Raghuraman
and Cech proposed
a G-quartet model of
telomere structure.
REFERENCE:
1.http://www.biologydisc
ussion.com/cytogenetics/
history-of-cytogenetics/3
5679
2.https://en.wikipedia.org
/wiki/Cytogenetics

1987:

Greider and Blackburn

discovered the enzyme
telomerase that is
needed for synthesis of
telomere.

Henderson and associates

recognized the unusual
structure of G-T rich tail
(single-stranded
extension) in the
telomere.

Burke, Carle and Olson

developed the yeast
artificial chromosomes
(YACs).

1989:

Draetta and associates

discovered the role of