Genetics and Cell Biology Overview
Genetics and Cell Biology Overview
SECTION A
Q.1 Describe the following in not more than 150 words each: (5x10=50)
1
DNA
8.
It is of two types: intra nuclear It is of four types: m-RNA, t-RNA and
and extra nuclear. r-RNA.
2
ii) Mitosis and Meiosis
Mitosis Meiosis
1. Mitosis is the type of cell division that 1. Meiosis is a type of cell division that
results in the formation of two daughter results in the formation of four daughter
cells each with the same number and cells each with half the number of
kind of chromosomes as the parent cell. chromosomes as the parent cell.
7. Two daughter cells are formed 7. Four daughter cells are formed
3
deduced two generalizations which later became known as Mendel's Laws of Heredity or
Hybridization" which was published in Natural History Society of Bruno in 1866. Based
are called the Principles or Laws of Inheritance: the First Law or Law of
(iii) In a dissimilar pair of factors one member of the pair dominates (dominant) the other
(recessive).
The law of dominance is used to explain the expression of only one of the parental characters
in a monohybrid cross in the F1 and the expression of both in the F2. It also explains the
characters are recovered as such in the F2 generation though one of these is not seen at
the F1 stage. Though the parents contain two alleles during gamete formation, the factors
or alleles of a pair segregate from each other such that a gamete receives only one of the
two factors.
4
3. Law of Independent Assortment
Based upon observations on dihybrid crosses (crosses between plants differing in two traits)
Independent Assortment. The law states that ‘when two pairs of traits are combined in a
5
Mendelian deviation
1) Incomplete dominance
2) Codominance
1) Incomplete dominance
Mendel always observed complete dominance of one allele over the other for all the seven
characters, which he studied, in garden pea. Later on cases of incomplete dominance were
reported. For example, in four o clock plant (Mirabilis jalapa) there are two types of flower viz., red
and white. A cross between red and white flowered plants produced plants with intermediate
flower colour i.e. pink colour in F1 and a modified ratio of 1 red:
6
2. Codominance
In case of codominance both alleles express their phenotypes in heterozygote greater than an
intermediate one. The example is AB blood group in human. The people who have blood
type AB are heterozygous exhibiting phenotypes for both the IA and IB alleles. In other
words, heterozygotes for codominant alleles are phenotypically similar to both parental
types. The main difference between codominance and incomplete dominance lies in the
way in which genes act. In case of codominance both alleles are active while in case of
Gene, which causes the death of its carrier when in homozygous condition is called lethal gene.
Mendel’s findings were based on equal survival of all genotypes. In normal segregation
ratio of 3:1 is modified into 2:1 ratio. Lethal genes have been reported in both animals as
well as plants. In mice allele for yellow coat colour is dominant over grey. When a cross
is made between yellow and grey a ratio of 1:1 for yellow and gray mice was observed.
This indicated that yellow mice are always heterozygous. Because yellow homozygotes
are never born because of homozygous lethality. Such genes were not observed by
Special types of chromosomes are found only in certain special tissues. These
chromosomes are larger in size and are called giant chromosomes in certain plants
and they are found in the suspensors of the embryo. The polytene chromosome and
lamp brush chromosome occur in animals and are also called as giant chromosomes.
7
1. Polytene chromosomes observed in the salivary glands of Drosophila (fruit fly) by C.G.
Balbiani in 1881. In larvae of many flies, midges (Dipthera) and some insects the interphase
chromosomes duplicates and reduplicates without nuclear division. A single chromosome
which is present in multiple copies form a structure called polytene chromosome which can
be seen in light microscope. They are genetically active. There is a distinct alternating dark
bands and light inter-bands. About 95% of DNA are present in bands and 5% in inter-bands.
The polytene chromosome has extremely large puff called Balbiani rings which is seen in
Chironomous larvae. It is also known as chromosomal puff. Puffing of bands are the sites of
intense RNA synthesis. As this chromosome occurs in the salivary gland it is known as salivary
gland chromosomes. Polyteny is achieved by repeated replication of chromosomal DNA
several times without nuclear division and the daughter chromatids aligned side by side and
do not separate (called endomitosis). Gene expression, transcription of genes and RNA
synthesis occurs in the bands along the polytene chromosomes. Maternal and paternal
homologues remain associated side by side is called somatic pairing.
2. Lampbrush chromosomes occur at the diplotene stage of first meiotic prophase in oocytes
of an animal Salamandar and in giant nucleus of the unicellular alga Acetabularia. It was first
observed by Flemming in 1882. The highly condensed chromosome forms the
chromosomal axis, from which lateral loops of DNA extend as a result of intense RNA
synthesis. These chromosomes consist of main axis and many fine lateral projections or loops
which give them the appearance of a test tube brush or lampbrush.
Actually, the main axis consists of four chromatids or two bivalent chromosomes
and the chromonemeta of these chromatids give out fine loops at the lateral sides. Only
the kinetochore bears no lateral loops. Ris (1957) studied the loops with electron
microscope and suggested that the loops were integral parts of chromonemata which
are extended in the form of major coils.
8
The number of pairs of loops increases in meiosis till it reaches a maximum in
diplotene. After diplotene stage, the number of loop pairs gradually decreases and the
loops disappear at Metaphase1
Many plant (maize, etc.) and animal (such as insects and small mammals) species,
besides having autosomes (A-chromosomes) and sex-chromosomes possess a special
category of chromosomes called B-chromosomes without obvious genetic function.
9
1. The nuclei of some animals or plants contain one or more chromosomes in addition
to normal chromosomes. These additional chromosomes are called B-chromosomes
or supernumerary chromosomes.
10
They are different in eukaryotes and prokaryotes. The recognition and binding of
consensus sequence by RNA polymerase in eukaryotes are facilitated by specific
factors called transcription factors.
2. Elongation The RNA polymerase travels down the gene until it reaches the
initiation site. Here it begins making the RNA strand complementary to the template
strand. The ribonucleoside triphosphate molecules are used as precursors for
adding nucleotides in the mRNA chain. The elongation process continues until a
termination sequence is reached. Here, transcription stops. The process of
elongation is facilitated by some factors in eukaryotes, called elongation factors.
3. Termination Once the RNA polymerase reaches the termination sequence, it halts,
and no more elongation takes place. The newly formed molecule of mRNA is released
from the transcription complex in either of the two ways; A hairpin loop is formed
in mRNA that pulls the mRNA from RNA polymerase. A protein called rhoprotein
uses ATP to break the bonds and release mRNA from the complex The DNA double
helix unwinds during the process of transcription generating supercoils. These
supercoils are removed by special enzymes called topoisomerases. These enzymes
are different in eukaryotes and prokaryotes.
11
e) Write short notes on the following: 10
i) Cell cycle
Definition: A series of events leading to the formation of new cell is known as cell cycle. The
phenomenonal changes leading to formation of new population take place in the cell
cycle. It was discovered by Prevost and Dumans (1824). The series of events include
several phases.
12
ii) Plastids
The term plastid is derived from the Greek word Platikas (formed/moulded) and
used by A.F.U. Schimper in 1885. He classified plastids into following types according
to their structure, pigments and function. Plastids multiply by fission.
Plastids
13
Amyloplast – stores – starch
Chloroplast
Phaeoplast
Elaioplast – store – lipids (oils) Seed of
Brown algae and dinoflagellates monocot and dicots.
Pigment fucoxanthin
Rhodoplast
Red algae
Pigment Phycoerythrin
According to Schimper, different kind of plastids can transform into one another.
14
iii) Aneuploids
The aneuploids are individuals with unbalanced chromosome sets, that is, with
extra or missing chromosomes. Their chromosome complement contains at least one
or more or one less chromosome than the normal diploid number. If one homolog of
the normally diploid complement is present three times, the condition is called trisomy,
and an individual or this type is called a trisomic and the condition call be designated
by the symbol 2n+1.
1. Test cross is the cross that occurs between a dominant phenotype and a
homozygous recessive phenotype (parent).
2. All test crosses are backcrosses.
3. The F1 hybrid is crossed with a recessive genotype.
4. The test cross helps in the identification of the genotype of the dominant
individual.
15
Q.2
a) Define cell. How is a plant cell different from an animal cell? Describe a
typical cell with a suitable diagram (15)
All organisms are composed of cells. cell is the fundamental structural and functional unit
of all living organisms. Anton Von Leeuwenhoek first saw and described a live cell.
Robert Brown later discovered the nucleus.
16
1 Usually smaller than plant cells.
Irregular or round in shape
Usually they are larger than animal cells.
Plant Cells are Square or
rectangular in shape.
7 Centrioles present
17
8 Nucleus at the centre of the cell
Storage material is
granules
18
(b) What do you understand by ‘genetically modified crop plants’? Give an account
of their uses in management of insect-pests, diseases and weeds.
(15)
Genetically modified crops (GM crops) are plants used in agriculture, the DNA of which has been
modified using genetic engineering techniques.
Applications
Transgenic technology is widely used to control the agricultural disease and insectpest, reduce
the cost of agricultural production, improve the effect of disease and insect control,
19
reduce pesticide pollution, and increase crop production, thus brought new vigour and
hope in the prevention and control of crop diseases and pest.
Weeds are a constant problem in crop fields. Weeds not only compete with crops for sunlight,
water, nutrients and space but also a carrier for insects and diseases. If left uncontrolled,
weeds can reduce crop yields significantly.
Glyphosate herbicide produced by Monsanto, USA company under the trade name ‘Round up’
kills plants by blocking the 5-enopyruvate shikimate-3 phosphate synthase
DMH -11 is transgenic mustard developed by a team of scientists Centre for Genetic
Manipulation of Crop Plants at Delhi University under Government sponsored project.
It is genetically modified variety of Herbicide Tolerant (HT) mustard. It was created by
using “barnase/ barstar” technology for genetic modification by adding genes from soil
bacterium that makes mustard, a self-pollinating plant. DMH -11 contains three genes
viz. Bar gene, Barnase and Barstar sourced from soil bacterium. The bar gene had
made plant resistant to herbicide named Basta.
i. Bt Cotton
• Bt cotton is a genetically modified organism (GMO) or genetically modified pest resistant plant
cotton variety, which produces an insecticide activity to bollworm.
• Strains of the bacterium Bacillus thuringiensis produce over 200 different Bt toxins, each
harmful to different insects. Most Bt toxins are insecticidal to the larvae of moths and
butterflies, beetles, cotton bollworms and gatflies but are harmless to other forms of life.
• The genes are encoded for toxic crystals in the Cry group of endotoxin. When insects attack
and eat the cotton plant the Cry toxins are dissolved in the insect’s stomach.
• The epithelial membranes of the gut block certain vital nutrients thereby sufficient regulation
of potassium ions are lost in the insects and results in the death of epithelial cells in the
intestine membrane which leads to the death of the larvae.
ii. Bt Brinjal
The Bt brinjal is another transgenic brinjal created by inserting a crystal protein gene (Cry1Ac)
from the soil bacterium Bacillus thuringiensis into the genome of various brinjal
cultivars. The insertion of the gene, along with other genetic elements such as
promoters, terminators and an antibiotic resistance marker gene into the brinjal plant
is accomplished using Agrobacterium-mediated genetic transformation. The Bt brinjal
has been developed to give resistance against Lepidopteron insects, in particular the
Brinjal Fruit and Shoot Borer (Leucinodes orbonalis).
21
Virus Resistance
Many plants are affected by virus attack resulting in series loss in yield and even death.
Biotechnological intervention is used to introduce viral resistant genes into the host
plant so that they can resist the attack by virus. This is by introducing genes that
produce resistant enzymes which can deactivate viral DNA. Resistance to plum pox
virus conferred by insertion of a coat protein (CP) gene from the virus.
c) Define male sterility. Discuss its types. Describe the limitations of CGMS system
in hybrid seed production (20)
Male Sterility
Male sterility is characterized by nonfunctional pollen grains, while female gametes function
normally. It occurs in nature sporadically.
Morphological features of male sterility
The male sterility may be due to mutation, chromosomal aberrations, cytoplasmic factors or
interaction of cytoplasmic and genetic factors. Because of any of the above reasons the
following morphological changes may occur in male sterile plants.
• Viable pollen grains are not formed. The sterile pollen grains will be transparent and rarely
takes up stain faintly.
• Non-dehiscence of anthers, even though viable pollens are enclosed within. This may be
due to hard outer layer, which restrict the release of pollen grains.
• Androecium may be malformed, thus there is no possibility of pollen grain formation. Kinds
of male sterility, maintenance and uses
Male sterility may be conditioned due to cytoplasmic or genetic factors or due to interaction
of both. Environment also induces male sterility. Depending on these factors male
sterility can be classified in to
• Environment insensitive genic male sterility- commonly referred as Genetic male sterility.
22
• Environment sensitive genic male sterility or Environmental induced sterility which is again
sub divided in to
1. Cytoplasmic Male Sterility (CMS) It occurs due to the mutation of mitochondria or some
other cytoplasmic factors outside the nucleus. Nuclear genes are not involved here. There
is considerable evidence that gene or genes conditioning cytoplasmic male sterility.
Particularly in maize DNA reside in mitochondria and may be located in a plasmid like
element.
Since mother contributes the cytoplasm to the offspring, the sterility is transferred to the F1. Uses
Since there are no R lines available, this type of sterility is useful only in crops where seed is
not the end product. For example in onion and many ornamental plants the hybrids
developed exhibit maximum hybrid vigour with respect to longer vegetative duration
and larger flower size and larger bulb size. Cytoplasmic male sterility has successfully
been exploited in maize for producing double cross hybrids.
23
2. Genetic Male Sterility (GMS)
Genetic male sterility is normally governed by nuclear recessive genes ms ms. Exception to
this is safflower where male sterility is governed by dominant gene Ms Ms. This type
of male sterility is used in Redgram and Castor for production of hybrids. In red gram
there are number of GMS lines are available. E.g. Ms Co 5, Ms T21
Maintenance
In genetic male sterility, the sterile line will be maintained from heterozygous condition. When
this heterozygous line is grown in the field it will segregate in the ratio of 1 Fertile : 1
sterile. The pollen from the Fertile line will pollinate the sterile line and as a result seed
set will be there in the sterile line. These seeds are to be harvested and used for hybrid
seed production.
For hybrid seed production, the seeds collected from sterile plants will be grown using
double the seed rate since it will segregate in the ratio of 1 fertile : 1 sterile line.
At the time of flowering, the fertile line will be identified by yellow plumpy anthers and
removed from the field. Only the sterile line will remain in field. These will be pollinated
by the R line and the R1 obtained will be hybrid redgram. Utilisation: Hybrid development.
Eg: Redgram
A line Male sterile A line or ms line: This tem represents a male sterile line belonging to
anyone of the above categories. The A line is always used as a female parent in hybrid
seed production.
B line or maintainer line: This line is used to maintain the sterility of A line. The B line is
isogenic line which is identical for all traits except for fertility status.
R line and restoration of fertility: It is other wise known as Restorer line which restores fertility
in the A line. The crossing between A x R lines results in F 1 fertile hybrid seeds which
is of commercial value.
Maintenance
The A line which is male sterile is maintained by crossing it with isogenic B line which is also
24
known as maintainer line. The B line is similar to that of A line in all characters (isogenic)
except fertile cytoplasm.
The male sterile A line is crossed with R line (Restorer) which restorers fertility in F1.
Demerits
• Firstly, it requires more area and labour, because the breeder has to maintain three types of
material, viz. A, B and R lines.
• Moreover, sometimes CGMS line has inferior agronomic performance.
Q.3.
25
Germinal and Somatic Mutations
Eukaryotic organisms have two primary cell types - germ and somatic. Mutations can
occur in either cell type. If a gene is altered in a germ cell, the mutation is termed a
germinal mutation.
Somatic cells give rise to all non-germline tissues. Mutations in somatic cells are called
somatic mutations. Because they do not occur in cells that give rise to gametes,
the mutation is not passed along to the next generation by sexual means.
26
The male sterility has been induced in many crops such as pearl millet which is used
in hybrid seed production.
3. Production of Haploids:
X-ray induced haploids have been developed in many crops which are used for
development of pure lines after chromosomal doubling.
4. Creation of Genetic Variability:
Induced mutations lead to creation of vast genetic variability in a population which
provides basis for selection.
5. In some cases, induced mutations have been used for overcoming problem of
selfincompatibility.
• The concept of the reliability of the phenotypic value of a plant as a guide to the
breeding value (additive genotype variance) is called the heritability of the metric
trait. As previously indicated, plant breeders are able to measure phenotypic
values directly, but it is the breeding value of individuals that determines their
influence on the progeny. Heritability is the proportion of the observed variation
in a progeny that is inherited.
• Heritability measures this degree of correspondence. It does not measure genetic
control, or trait. Heritability is, therefore, defined as a fraction: it is the ratio of
genetically caused variation to total variation (including both environmental and
genetic variation).
27
(c) Describe the Gametophytic and sporophytic system of self incompatibility
(SI). Discuss the relevance of SI in crop plants. (20)
Self-Incompatibility
Self-incompatibility and sterility are the two mechanisms, which encourage
crosspollination. More than 300 species belonging to 20 families of angiosperms
show self-incompatibility.
Definition
In self incompatibility plants, the flowers will produce functional or viable pollen grains
which fail to fertilize the same flower or any other flower of the same plant.
• Self incompatible pollen grain may fail to germinate on the stigmatic surface.
• Some may germinate but fails to penetrate the stigmatic surface.
• Some pollen grains may produce pollen tube, which enters through stigmatic surface,
but its growth will be too slow. By the time the pollen tube enters the ovule the flower
will drop.
• Some time fertilziation is effected but embryo degenerates early.
28
Heteromorphic system
In this case there will be difference in the morphology of the flowers. For example in
Primula sp there are two types of flowers namely PIN and THRUM. PIN flowers have
long style and short stamens while THRUM flowers have short style and long
stamens. This type of difference is known as Distyly. In case of distyly the only
compatible mating is between PIN and THRUM. The relative position of anthers
is determined by single gene S/s. The recessive as produces PIN and
heterozygotes Ss produces THRUM.
TRISTYLY is known in some plants like Lythrum salicaria. In this case the style of the
flower may be short, long or medium length.
Homomorphic System
Here the incompatibility is not associated with morphological difference among flower.
The incompatibility reaction of pollen may be controlled by the genotype of the
plant on which it is produced – (Sporophytic control) or by its own genotype –
(Gametophytic control).
Gametophytic system
First discovered by East and Mangelsdorf in1925 in Nicotiana sanderae. Here the
incompatible reaction of pollen is determined by its own genotype and not by the
genotype of the plant on which pollen is produced. Genetically the incompatibility
reaction is determined by a single gene having multiple allele. Eg. Trifolium
Nicotiana, Lycopersicon, Solanum ,& Petunia. Here codominance is assumed.
Sporophytic system
Here also the self incompatibility is governed by a single gene S with multiple alleles.
More than 30 alleles are known in Brassica oleracea. Here dominance is
assumed. The incompatibility reaction isdetermined by the genotype of the plant
29
on which pollen grain is produced and not by the genotype of the pollen. This
system is more complicated. The allele may exhibit dominance, codominance or
competition. This system was first reported by Hugues and Babcock in1950 in
Crepis foetida and by Gerstal in Parthenium argentatum.
The sporophytic system is found in radish, brassicas and spinach.
30
31
Q.4.
Replication of DNA takes place during the S phase of cell cycle. During replication, each DNA
molecule gives rise to two DNA strands, identical to each other as well as to the parent
strand. Three hypotheses of DNA replication have been proposed. They are conservative
replication, dispersive replication, and semiconservative replication.
Semi-conservative replication was proposed by Watson and Crick in 1953. This mechanism of
replication is based on the DNA model. They suggested that the two polynucleotide
strands of DNA molecule unwind and start separating at one end.
During this process, covalent hydrogen bondsare broken. The separated single strand then acts
as template for the synthesis of a new strand. Subsequently, each daughter double helix
carries one polynucleotide strand from the parent molecule that acts as a template and
the other strand is newly synthesised and complementary to the parent strand.
Replication begins at the initiation site called the site of ‘origin of replication’ (ori). In
prokaryotes, there is only one origin of replication, whereas in eukaryotes with giant DNA
molecules, there can be several origins of replication (replicons). Since the two strands of
DNA cannot be separated throughout at a time (due to large requirement of energy) the
replication occurs within a small opening of the DNA helix called as replication fork.
Unwinding of the DNA strand is carried out by DNA helicase. Thus, in one strand
(template strand with polarity 3' 5') the replication is continuous and is known as the
leading strand while in the other strand (coding strand with polarity 5' 3') replication is
discontinuous, known as the lagging strand. The discontinuously synthesized fragments
of the lagging strand (called the Okazaki fragments) are joined by the enzyme DNA ligase.
As they move away in both directions, newly synthesized complementary nucleotides are paired
with the existing nucleotides on the parent strand and covalently bonded together by
DNA polymerase. Formation of new strand requires a primer (a short stretch of RNA) for
initiation. The primer produces a 3'-OH end on the sequence of ribonucleotides, to which
deoxy ribonucleotides are added.
32
The RNA primer is ultimately removed leaving a gap in the newly synthesized DNA strand. It is
removed from 5' end one by one by the exonuclease activity of DNA polymerase. Finally,
when all the nucleotides are in position, gaps are sealed by the enzyme DNA ligase.
At the point of origin of replication, the helicases and topoisomerases (DNA gyrase) unwind and
pull apart the strands, forming a Y-Shaped structure called the replication fork. There are
two replication forks at each origin. The two strands of a DNA helix have an antiparallel
orientation. The enzyme DNA polymerase can only catalyse the addition of a nucleotide
to the new strands in the 5' 3' direction, as it can only add nucleotides to the 3' carbon
position.
33
b) Write short notes on the following:- (15)
• A trait which is influenced by the sex of the individual is called sex-influenced trait.
• Sex-influenced traits are those that are dominant in one sex but recessive in the other.
This is due to the different cellular environments in males and females provided by sex
hormones.
34
• Different hormonal environments affect expression of heterozygote of a trait. However,
both homozygotes are unaffected and express the trait irrelevant of the hormones
produced .
a. Example
Cattle
I. Sex-linked inheritance
The inheritance of a trait that is determined by a gene located on one of the sex
chromosomes is called sex linked inheritance. Genes present on the differential region
of X or Y chromosomes are called sex linked genes. The genes present in the differential
region of “X” chromosome are called X linked genes. The X–linked genes have no
corresponding alleles in the Y chromosome. The genes present in the differential region
of Y chromosome are called Y- linked or holandric genes. The Y linked genes have no
corresponding allele in X chromosome. The Y linked genes inherit along with Y
chromosome and they phenotypically express only in the male sex. Sex linked inherited
traits are more common in males than females because, males are hemizygous and
therefore express the trait when they inherit one mutant allele.
Examples
35
III. Sex limited traits
• Beard in males
• Barred colouring in chickens normally is visible only in the roosters.
• Secondary hormonal development
ALLOPOLYPLOIDY
Allopolyploids have genomes from two or more species. Several of Our crop plants are
allopolyploids. Production of allopolyploids has attracted considerable attention; the aim
almost always was the creation of new species. Some success has been obtained as is
evident from the emergence of Triticale as a new crop species in some areas, and the
promise shown by some other allopolyploids, e.g., Raphanobrassica and some
allopolyploids of forage grasses.
36
Applications of Allopolyploidy in Crop Improvement
Allopolyploidy has three major applications in crop improvement: (1) as bridging species in the
transfer of character from one species into another. (2) In the production of new crop
species, and (3) for widening the genetic base of existing allopolyploid crop species.
Utilization as a Bridging Species
Amphidiploids serve as a bridge in the transfer of characters from one species to a related species,
generally from wild species to cultivated species. The use of an amphidiploid as a bridging
species becomes necessary when the hybrid between the cultivated species (recipient
species) and the wild species (donor species) is sterile. The sterility of F1 hybrid makes it
impossible to cross the recipient species with the F1 and this does not permit the transfer
of characters from the donor to the recipient species. In such cases, chromosome number
of the F1 interspecific hybrid is doubled to produce an amphidiploid, which is a novel
species; it will be generally reasonably fertile and can be crossed to the recipient species.
Progeny from the cross between the recipient species and the amphidiploid would have
the somatic (2n) chromosome complement of the recipient species and one genome from
the donor species. As a result, they would be sufficiently fertile to be used in backcross with
the recipient species. From such a programme, alien addition and alien substitution lines
are recovered, which are used in the transfer of genes, groups of genes or of small
chromosome segments to the recipient species.
37
Widening the genetic base of existing allopolyploids
The genetic base of some natural allopolyploids may be narrow, and it may be useful to introduce
variability in such cases by producing the allopolyploids afresh from their parental species.
B. napus is a case in point; the genetic variability of this species is narrow and the only
recourse available is to synthesize new allopolyploid B. napus to widen its genetic base.
This is being done by crossing B. campestris (n = 10, AA) with B. oleracea (n = 9, CC), the
parental diploid species, to produce the amphidiploid B. napus (n = 19, AACC). The two
species, B. campestris and B. oleracea, have to be crossed as autotetraploids the cross is
very difficult and embryo culture has to be used; somatic hybridization is being used to
get around these problems.
Limitations of Allopolyploidy
• The effects of allopolyploidy cannot be predicted. The allopolyploids have some features from
both the parental species, but these features may be the undesirable ones, e.g.,
Raphanobrassica, or the desirable ones, e.g., Triticale.
• Newly synthesized allopolyploids have many defects, low fertility, cytogenetic and genetic
instability, other undesirable features, etc.
• The synthetic allopolyploids have to be improved through extensive breeding at the polyploid
level. This involves considerable time, labour and other resources.
• Only a small proportion of allopolyploids are promising; a vast majority of them are valueless
for agricultural purposes (except for their use as a bridging species). Thus a costly trial and error
has to be done before one is likely to come across a promising allopolyploid combination that
can be improved through breeding to yield a new crop species.
SECTION B
38
a) Distinguish between Monohaploid and Poly haploids. Describe the importance
of Haploids in Crop Improvement. (10)
(ii) Polyhaploid:
Haploid individuals arising from a polyploid species are called polyhaploids; they
may be di-haploids, tri-haploids and so on. Based on their auto- or allo-
ploid condition, polyhaploids have been divided into two groups:
Monoploids and haploids are weaker than diploids and are of little agricultural value directly. But
they are of great interest because they offer certain unique opportunities in crop
improvement.
1. They are used for developing homozygous diploid lines, following chromosome doubling
in two years. This greatly reduces the time and labour required for the isolation of inbreds and
purelines.
2. They may be useful in the isolation of mutants because the mutant allele (even if it is
recessive) expresses itself in M, due to a single dose of the gene in somatic tissues.
Chromosome number of mutants may be doubled to produce homozygous mutant lines in a
single generation.
3. Since desirable gametes are more frequent (=p, that is, the frequency of desirable allele in the
population) than desirable zygotes (=p2), selection based on haploids or doubled haploids
may be expected to be more efficient than that based on diploid (zygote-derived) plants. There
is some evidence that this may be so.
4. In autotetraploids like potato, breeding is relatively much easier at the haploid (2x) level than
at the tetraploid level (4x). For comparison, consider segregation in an autotetraploid and in
a diploid. There is an increasing tendency to breed potato varieties at the haploid level and
then double their chromosome number to obtain tetraploid varieties.
5. In monoploids and most haploids, the chromosomes do not pair and their distribution at
anaphase I is random leading to an almost complete sterility. Some functional gametes with n
chromosomes may be produced, which may give rise to 2n progeny.
39
6. Monoploids and haploids occur spontaneously in low frequencies, may be induced from
pollen grains or haploid cells of unfertilized ovaries through callus formation or embryo
production and by chromosome elimination in certain interspecific crosses, e.g., Hordeum
bulbosum X [Link].
A chromosome is an organized structure of DNA and protein that is found in cells. Strasburger
(1875) first reported its present in eukaryotic cell and the term ‘chromosome’ was
introduced by Waldeyer in 1888. Bridges (1916) first proved that chromosomes are the
physical carriers of genes. It is made up of DNA and associated proteins.
BASIS FOR
COMPARISON HETEROCHROMATIN EUCHROMATIN
Meaning
40
Kind of stain Stained dark. Lightly stained.
BASIS FOR
COMPARISON HETEROCHROMATIN EUCHROMATIN
41
Transcriptional activity They show little or no
transcriptional
activity.
They actively participate in the
process of
transcription.
42
Regions of euchromatin are
non-sticky.
Regions of
heterochromatin
are sticky.
Genetically active.
Genetically inactive.
Phenotype
remains
unchanged of an
organism.
BASIS
FOR
COMPARISON
HETEROCHROMATIN EUCHROMATIN
43
It results in genetic variations
and permits the
genetic
transcription
It permits the
gene
expression
regulation and
also maintains
the structural
integrity of the
cell.
44
c) Define cell theory. Write the features of cell doctrine (10)
Cell Theory
Viruses are puzzle in biology. Viruses, viroids and prions are the exception to cell
theory. They lack protoplasm, the essential part of the cell and exists as obligate
parasites which are sub-cellular in nature.
45
In plants the embryo inviability occurs due to many causes, though there is normal fertilization
and development in the early stage. The impairments start subsequently, resulting in the
eventual death of embryo or from the endosperm or from the surrounding maternal
tissue.
To overcome the above barriers for obtaining the hybrids, the embryo culture technique is
effective utilized in which the nutritional relationship between the embryo and endosperm
is restored by providing the artificial medium to induce and complete growth of hybrid
embryos and is called as embryo rescuing. The demonstration of the ability of the excised
embryos from non-viable seeds to grow successfully in artificial medium supplied with
nutrients bypassed the problems of wide hybridization and to enable transference of
resistant genes for pests and diseases and various environmental stresses into the
cultivated species.
The embryo culture technique is not only adopted to produce interspecific hybrids, but aslo
extended to produce viable hybrids between genera. Intergeneric hybrids have been
obtained between Hordeum and Secale; Hordeum and Hordelymus, Triticum and Elymus;
However, for the successful embryo rescuing in interspecific and intergeneric crosses, the
composition of the artificial nutrient medium is very important. The reason is that the
medium formulated to foster growth of embryos of one hybrids combination may not be
suitable for another.
To overcome the constraints in the artificial medium in inducing the growth of embryos, the
following technique is followed in which the hybrid embryos embedded in hybrid
endosperm are removed and transplanted or implanted into the normal endosperm. This
technique is termed as embryo implantation. This technique was first proposed by
d) Why Temperature sensitive genetic male sterility (TGMS) is often called as the
most efficient system of hybrid seed production. (10)
Temperature Sensitive Genetic Male Sterility (TGMS): The Most Efficient System of Hybrid Seed
Production
Definition of TGMS:
TGMS is a type of male sterility system where male fertility or sterility is influenced by the surrounding
temperature. This means that the fertility of TGMS plants can be altered by manipulating the ambient
temperature conditions. In a higher or lower temperature range (depending on the specific TGMS line),
the plant becomes sterile, while in another temperature range, it becomes fertile.
47
fertility without the need for labor-intensive and costly chemical hybridizing agents or genetic
manipulation. Such control makes it easy to switch the plant from sterile to fertile states by
altering the temperature.
8. Cost Effectiveness:
Since no chemical agents or genetic modifications are required to induce sterility, TGMS proves to
be more cost-effective in comparison to other systems, making it economically viable for large-
scale hybrid seed production.
48
Conclusion:
The TGMS system’s reliance on simple environmental controls, ease of maintenance, high genetic purity,
and cost-effectiveness makes it the most efficient and preferred method for hybrid seed production,
especially in self-pollinated crops like rice. This efficiency has led to its widespread adoption and success
in various breeding programs globally.
Self incompatibility refers to the inability of fertile pollen to fertilize its own egg cell resulting in
failure of seed set. It differs from male sterility in that self-incompatible pollen is fertile while it is
sterile in male sterile pollen. The term self incompatibility was originally coined by Stout in 1917.
Koelreuter, in the middle of 18th century, first reported self incompatibility in Verbascum
phoeniceum plants.
MECHANISM OF SELF INCOMPATIBILITY
There are two different types of events which are considered to constitute the
basis of self incompatibility system: (1) the stimulation of unlike genotypes and (2) the
inhibition of like genotypes. Thus two hypotheses have been proposed to explain the
mechanism of self incompatibility in plants. These are: (1) complementary hypothesis,
and (2) oppositional hypothesis.
2. Oppositional hypothesis : This hypothesis states that interaction between like alleles (S1 S2
× S1 S2) leads to production of inhibitor which inhibits the growth of pollen tube in the pistil.
In other words, as a result of interaction between like alleles a substance is produced in pollen
and pistil which has the property to interfere with the normal metabolism of the pollen grain
or the pollen tube. The inhibitor can act in three ways : (1) it may inhibit an enzyme or auxin
necessary for pollen tube growth, (2) may block pollen tube membrane, and (3) may inhibit
an enzyme necessary for the penetration of style.
Q.6.
(a) How will you obtain virus free stocks using tissue culture technique?
Explain its procedure. (15)
The viral diseases in plants transfer easily and lower the quality and yield of the plants. It is
very difficult to treat and cure the virus infected plants therefore the plant breeders are
always interested in developing and growing virus free plants. In some crops like
ornamental plants, it has become possible to produce virus free plants through tissue
culture at the commercial level. This is done by regenerating plants from cultured
• Meristems that are generally free of infection. In the elimination of the virus, the size of the
meristem used in cultures play a very critical role because most of the viruses exist by
establishing a gradient in plant tissues. The regeneration of virus-free plants through cultures is
inversely proportional to the size of the meristem used. • Meristems treated with heat shock
50
(34-36oC) to inactivate the virus
• Chemical treatment of the media- attempts have been made to eradicate the viruses from
infected plants by treating the culture medium with chemicals e.g. addition of cytokinins
Among the culture techniques, meristem-tip culture is the most reliable method for virus and
other pathogen elimination. Viruses have been eliminated from a number of
economically important plant species, which has resulted in a significant increase in the
yield and production e.g. potato virus X from potato, mosaic virus from cassava
etc.
Cell wall is the outermost protective cover of the cell. It is present in bacteria,
fungi and plants whereas it is absent in animal cell. It was first observed by Robert
Hooke. It is an actively growing portion. It is made up of different complex material in
various organism. In bacteria it is composed of peptidoglycan, in fungi chitin and fungal
cellulose, in algae cellulose, galactans and mannans. In plants it is made up of cellulose,
hemicellulose, pectin, lignin, cutin, suberin and silica.
51
In plant, cell wall shows three distinct regions (a) Primary wall (b) Secondary wall (c) Middle
lamellae.
Functions of cell wall
The cell wall plays a vital role in holding several important functions given below
The cell membrane is also called cell surface (or) plasma membrane. It is a thin structure which
holds the cytoplasmic content called ‘cytosol’. It is extremely thin (less than 10nm).
The functions of the cell membrane is enormous which includes cell signalling,
transporting nutrients and water, preventing unwanted substances entering into the
cell, and so on.
Cell Transport
The membrane proteins (channel and carrier) are involved in movement of ions
and molecules across the membrane.
Cell surface membrane are able to transport individual molecules and ions. There
are processes in which a cell can transport a large quantity of solids and liquids into cell
(endocytosis) or out of cell (exocytosis).
Signal Transduction
The process by which the cell receive information from outside and respond is called signal
transduction.
52
c) What is embryo culture? Discuss the applications of Embryo culture (20)
EMBRYO CULTURE
In embryo culture, young embryos are removed from developing seeds and cultured on a
suitable nutrient medium to obtain seedlings. If necessary, excised embryos may be
placed into cultured endosperms, usually, of the same species. Young embryos require
a high osmotic concentration in the medium; as the embryos grow older, the osmotic
concentration needs to be reduced. Cultured embryos generally do not complete
development, and develop into seedlings prematurely. Sometimes, embryos from
mature seeds may also be used for embryo culture, eg, in Iris, orchids, etc. Generally, it
is difficult to culture embryos before a certain stage of development, for example,
before the globular stage in the case of barley. But in some species, even few-celled
embryos have been cultured successfully. Elaborate media for embryo culture have
been devised, but the tissue culture media may also be used for this purpose with
appropriate modifications. Suitable techniques are available for embryo culture in many
crop species, and may be easily developed for other species, if needed.
Embryo culture is being routinely used in some crop improvement programmes to obtain
interspecific hybrids. It has some other specific uses as well, for example, propagation
of orchids, overcoming dormancy, etc. The various applications of embryo culture are
briefly described below.
Distant crosses may fail due to one or more of several reasons, e.g., inability of pollen to
germinate, failure of pollen tubes to grow or, perhaps more commonly, due to the
degeneration of endosperm. When embryo fails to develop due to endosperm
degeneration, embryo culture is used to recover hybrid plants. The cultured embryos
may continue to develop as embryos or form callus, from which shoots or SEs (somatic
embroys) may regenerate later. Some examples of recovery of hybrids are from the
crosses H. vulgare x Secale cereale, T. aestivum x Agropyron repens, H. vulgare x
Triticum sp., including T. aestivum, etc. In case of Triticale, rare combinations between
53
Triticum and Secale develop viable seeds. But most of the tetraploid and hexaploid
wheats carry two dominant genes, Kr1 and Kr2, which prevent seed development in
crosses with Secale. The majority of hybrid seeds are small, poorly developed and show
very poor germination, and seeds develop from only 5-10% of the florets pollinated.
Hybrid seedlings are recovered from 50-70% of the florets pollinated, when embryos
from 10-14 day old caryopses are removed and cultured on a suitable medium.
Hybrid seeds from T. aestivum x H. vulgare are not obtained in the normal course. But hybrid
seedlings have been obtained by removing the young hybrid embryos from 9-12 day
old caryopses and placing them on 14-18 day old barley endosperms cultured on a
nutrient medium. As many as 10 hybrid embryos may be placed on a single endosperin.
A high proportion of hybrid embryos developed into seedlings when they were thus
cultured.
54
2. Recovery of Haploid Plants from Interspecific Crosses.
When H. vulgare or T. aestivum (used as male) is crossed with H. bulbosum (used as female), the
chromosome complement of H. bulbosum is eliminated from the developing embryos.
Most of the seedlings obtained from such crosses are haploid, having only one set of
chromosomes from H. vulgare or T aestivum parent. There is some seed set in H.
bulbosum x T. aestivum crosses, but caryopses tend to degenerate after 10 days in the
case of H. bulbosum x H. vulgare crosses. Wheat haploids are also recovered when
wheat is pollinated with maize pollen. Embryo
55
culture of 8-10 day old embryos enables the recovery of a large number of haploid
seedlings in these cases.
This technique of haploid production has been used for barley breeding in Canada and Europe.
3. Propagation of Orchids.
Orchids are difficult to propagate since their seeds lack any stored food and the embryo is
virtually naked. In many orchids, embryo development is incomplete at the time the
seeds mature. Therefore, young or mature orchid embryos are removed from seeds and
placed on a suitable nutrient medium. The embryos develop into seedlings either
directly or through callus formation. This technique is particularly desirable in orchid
breeding as it allows recovery of sexual progeny from crosses.
Seeds may take 10-20 days to mature after the embryo is sufficiently developed to permit
successful culture in vitro. The embryos do not complete their development in vitro, but
develop directly into seedlings. Thus the next generation may be grown one or two
weeks earlier by embryo culture than from seeds. But this has not become a practical
feasibility because of the following two reasons: (1) embryo culture is a tedious and time
consuming technique, and (2) excellent greenhouse/phytotron facilities are a
prerequisite for such an application.
5. Overcoming Dormancy.
In some fruit trees like Iris, Prunus, Taxus, etc., embryos require a period of afterripening before
germination. Iris seeds may take two to several years to germinate. This period of
dormancy can be effectively eliminated by embryo culture provided the factors
responsible for dormancy do not reside in the embryo. This is very important in the
breeding of these trees since it substantially reduces their generation time.
Q.7.
56
a) Discuss the molecular basis of mutation. (15)
A sudden change in the genetic material of an organisms is called mutation. The term
mutation was introduced by Hugo de Vries (1901) while he has studying on the
plant, evening primrose (Oenothera lamarkiana) and proposed ‘Mutation theory’.
Features of Molecular Mutations:
Main features of molecular mutations are given below:
1. It is a change in the number or arrangement of nucleotide sequence of a gene.
2. It is a heritable change in DNA sequence.
3. It is permanent structural change in hereditary material [DNA].
4. Mutations can be harmful, beneficial, or have no effect.
5. Mostly mutations are harmful and very rarely beneficial.
6. Mutations may be caused by mistakes during cell division, or they may be caused
by- exposure to DNA-damaging agents in the environment such as radiation and
mutagenic chemicals.
7. It is an alteration in a gene from its natural state. In other words, one allele of a
gene changes into a different allele.
8. It may be a spontaneous or induced change in the DNA of a cell.
9. A mutation results in the appearance of a new heritable characteristic in an
individual.
10. Mutations are sometimes attributed to random chance events.
57
to A; pyrimidine replaced by pyrimidine: either C to T or T to C]. It means that
both way change between purines [A and G] and pyrimidines [C and T] can occur.
Such type of change yields a normal base.
(ii) Transversion:
Replacement of a purine by a pyrimidine and vice versa is called transversion. In other
words, it is the replacement of a base of one chemical category by a base of the
other [pyrimidine replaced by purine: C to A, C to G, T to A, T to G; purine
replaced by pyrimidine: A to C, A to T, G to C, G to T].
58
3. Frameshift Mutation:
Under this type of mutation there is an addition or loss of DNA bases that changes a
gene reading frame. A reading frame consists of groups of 3 bases and each base
code for one amino acid. A frameshift mutation shifts the grouping of these bases
and changes the code for amino acids. The resulting protein is usually
nonfunctional. Insertions, deletions, and duplications all can be called as
frameshift mutations.
59
c Differentiate between linkage and crossing over. Did Mendel recognize
the phenomenon of linkage? Explain (15)
60
2. It involves same chromosome of 2. It involves exchange of segments between
homologous chromosome non-sister chromatids of
homologous chromosome.
e
61
No. The main drawback in Mendelian experiments is that linkage was not defined by
Mendel. In his cross, the characters which he studied were located on different
chromosomes. Otherwise, if it was located on the same chromosome, linkage
would have occurred and the results obtained and interpreted by Mendel
would show some difference.
c) Discuss in detail the system of Transgenic male sterility with suitable example.
(20)
62
Use of TGMS or PGMS eliminates this problem. These male sterile lines are maintained by
growing them in a locality where the temperatures and photoperiods during the sensitive
developmental stages are such that they exhibit complete male fertility (phenotypically).
The selfed seeds from such lines are then grown for hybrid seed production in those
due to the prevailing temperature and photoperiod regimes. Clearly, all the plants in
the male sterile line will be sterile and no rouging will be required. TGMS and PGMS
are being used for hybrid rice development in China.
63
Advantages of Transgenic Male Sterility:
In India, transgenic lines expressing barnase and barstar genes have been
developed in Brassica juncea. These lines are stable and provide a complete and usable
male sterility-restorer system. This barnase-barstar system is expected to promote
hybrid development in Brassica juncea.
Q.8.
a) Discuss the methods of gene transfer to plants. (15)
Methods of Gene Transfer The next step after a recombinant DNA molecule has
been generated is to introduce it into a suitable host cell. There are many methods to
introduce recombinant vectors and these are dependent on several factors such as
the vector type and host cell. For achieving genetic transformation in plants, the basic
pre- requisite is the construction of a vector which carries the gene of interest flanked
by the necessary controlling sequences, i.e., the promoter and terminator, and deliver
the genes into the host plant. There are two kinds of gene transfer methods in plants.
It includes:
• Direct or vector-less gene transfer Chemical mediated gene transfer, Microinjection,
Electroporation, Liposome mediated method, Biolistics.
Indirect or vector – mediated gene transfer - Gene transfer is mediated with the
help of a plasmid vector is known as indirect or vector mediated gene transfer. Among
the various vectors used for plant transformation, the Ti-plasmid from Agrobacterium
tumefaciens has been used extensively.
In the direct gene transfer methods, the foreign gene of interest is delivered into the host plant
without the help of a vector. The following are some of the common methods of direct
gene transfer in plants.
a. Chemical mediated gene transfer: Certain chemicals like polyethylene glycol (PEG) and
dextran sulphate induce DNA uptake into plant protoplasts.
b. Microinjection: The DNA is directly injected into the nucleus using fine tipped glass needle
or micro pipette to transform plant cells. The protoplasts are immobilised on a solid support
(agarose on a microscopic slide) or held with a holding pipette under suction.
c. Electroporation Methods of Gene Transfer: A pulse of high voltage is applied to
protoplasts, cells or tissues which makes transient pores in the plasma membrane
65
through
which uptake of foreign DNA occurs.
d. Liposome mediated method of Gene Transfer: Liposomes the artificial phospholipid vesicles
are useful in gene transfer. The gene or DNA is transferred from liposome into vacuole
of plant cells. It is carried out by encapsulated DNA into the vacuole. This technique is
advantageous because the liposome protects the introduced DNA from being damaged
by the acidic pH and protease enzymes present in the vacuole. Liposome and tonoplast
of vacuole fusion resulted in gene transfer. This process is
called lipofection.
66
Liposome mediated method of Gene Transfer
e. Biolistics: The foreign DNA is coated onto the surface of minute gold or tungsten particles
(13 µm) and bombarded onto the target tissue or cells using a particle gun (also called
as gene gun/micro projectile gun/shotgun). Then the bombarded cells or tissues are
cultured on selected medium to regenerate plants from the transformed
cells.
Gene transfer is mediated with the help of a plasmid vector is known as indirect or vector
mediated gene transfer. Among the various vectors used for plant transformation, the
Ti-plasmid from Agrobacterium tumefaciens has been used extensively. This bacterium
has a large size plasmid, known as Ti plasmid (Tumor inducing) and a portion of it
referred as T-DNA (transfer DNA) is transferred to plant
genome in the infected cells and cause plant tumors (crown gall). Since this bacterium
has the natural ability to transfer T-DNA region of its plasmid into plant genome, upon
infection of cells at the wound site, it is also known as the natural genetic engineer of
plants.
67
Agrobacterium mediated gene transfer in plants
The foreign gene (e.g. Bt gene for insect resistance) and plant selection marker gene, usually an
antibiotic gene like npt II which confers resistance to antibiotic kanamycin are cloned
in the T DNA region of Ti-plasmid in place of unwanted DNA sequences.
(b) Explain the mechanism of crossing over and write its importance. (15)
Crossing over is a precise process that includes stages like synapsis, tetrad formation, cross over
and terminalization.
(i) Synapsis
Intimate pairing between two homologous chromosomes is initiated during zygotene stage of
prophase I of meiosis I. Homologous chromosomes are aligned side by side resulting
in a pair of homologous chromosomes called bivalents. This pairing phenomenon is
called synapsis or syndesis. It is of three types,
1. Procentric synapsis: Pairing starts from middle of the chromosome.
68
(ii) Tetrad Formation
After tetrad formation, crossing over occurs in pachytene stage. The non-sister
chromatids of homologous pair make a contact at one or more points. These points of
contact between non-sister chromatids of homologous chromosomes are called
Chiasmata (singular-Chiasma). At chiasma, cross-shaped or X-shaped structures are
formed, where breaking and re joining of two chromatids occur. This results in
reciprocal exchange of equal and corresponding segments between them. A recent
study reveals that synapsis and chiasma formation are facilitated by a highly organised
structure of filaments called Synaptonemal Complex (SC) (Figure 3.9). This
synaptonemal complex formation is absent in some species of male Drosophila hence
crossing over does not takes place.
(iv) Terminalisation
After crossing over, chiasma starts to move towards the terminal end of
chromatids. This is known as terminalisation. As a result, complete separation of
homologous chromosomes occurs.
69
Structure of Synaptonemal Complex
70
c) What are chromosomal aberrations? Describe the structural aberrations and
their genetic significance. (20)
Mutations which alter the chromosome structure, size or gene arrangement are chromosomal
mutations. Chromosomal mutations are widely called as chromosomal aberrations.
aberrations.
I. Structural Aberrations
Structural aberrations are those that involve a change in the chromosome
structure. These include deletions, duplications and rearrangements (inversions and
translocations). Structural changes occur when chromosomes break and later rejoin in
combinations that are different from the original. When there is a net loss or gain or
chromosomal segments, the change is called an unbalanced structural change. When
there is no net loss or gain of chromosomal segments, instead there is only a
rearrangement; it is called a balanced structural change (Figure 2.2).
Thus, balanced changes usually do not show any abnormal phenotypes, which
unbalanced changes do. You should keep in mind that these changes are not mutations
in genes; they only cause the number and order of genes to be changed. As with
aneuploidy changes, structural changes are also seen in humans, and manifest in
disorders such as Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, Prader-Willi
syndrome and Angelman syndrome.
71
1. Deletions
Usually any deletion resulting in loss of more than 2% of the genome has a lethal
outcome. Micro-deletions, however, are reported and documented for specific
disorders.
Cri-du-chat Syndrome This syndrome results from a deletion on the short arm
of chromosome 5. It is also known by other names such as 5p deletion syndrome and
Lejeune’s syndrome. The disorder gets its name from the characteristic cat-like cry of
affected infants.
2. Duplications
Duplications, like deletions, can cause abnormal phenotypic effects. They usually
arise by errors in homologous recombination (unequal crossing-over). Duplications
have their importance not only in medical genetics, but also in evolutionary genetics.
The presence of an extra copy of the gene virtually makes it free of selection pressure.
Thus, it contributes to diversification of protein functions resulting in families of
proteins. Proteins of such families have related functions differing in the task they are
72
specialized for. A classic example is that of the globin genes. Different globin proteins
express during different times of development, each of which is specialized to transport
oxygen under those conditions. These differences arose by gene duplications. Without
digressing too much we shall now look at the clinical significance of duplications
exemplified by Charcot–Marie–Tooth disorder.
3. Inversions
• Pericentric inversions occur when the inverted segment that includes the centromere. The
product after inversion can differ significantly in the arm length and thus change the type of
chromosome (eg: sub-metacentric to metacentric as shown in Figure 2.11-a).
• Paracentric inversions occur when the inverted segment does not include the centromere.
The product after inversion remains the same type as the original except for a change in the
order of genes (Figure 2.11-b)
73
Pericentric and paracentric inversion are both balanced rearrangements because
they do not cause any net loss or gain of genes. Except in the very rare cases that the
break points in the chromosome is within a gene (which gets disrupted), individuals
with inversions do not show any abnormal phenotype.
4. Translocation of Genes
Robertsonian Translocation
74
Reciprocal Translocation
75