Submitted By: Akshita Rajoria

Course : Bsc. (Life science)

Year and Sem: 1st (sem-2)
Roll No. : 23583052
Submitted To : Dr. Priyanka Verma
UNIT 4

VARIATION IN CHROMOSOME NUMBER AND STRUCTURE

INTRODUCTION

Genetic variation refers to the differences in DNA sequences among individuals within a
population or species. These variations arise through processes such as mutations, genetic
recombination during sexual reproduction, and genetic drift. Genetic variation is essential for
evolution as it provides the raw material upon which natural selection acts, leading to adaptation
and biodiversity

HAPLOIDY

Haploidy refers to the state or condition of having a single set of chromosomes in a cell, rather
than the usual two sets (diploidy) found in most eukaryotic cells. This results in cells containing
only one complete set of chromosomes, which is typically seen in gametes (sperm and eggs) and
certain stages of the life cycle of organisms that undergo alternation of generations, such as
plants and some algae. Haploidy is crucial for sexual reproduction as it allows for the fusion of
gametes during fertilization to restore the diploid chromosome number in the resulting zygote.
POLYPLOIDY

Polyploidy, the presence of extra chromosome sets, is fairly common in plants but very rare in
animals. One-half of all known plant genera contain polyploid species, and about two-thirds of
all grasses are polyploids. Many of these species reproduce asexually. In animals, where
reproduction is primarily by sexual means, polyploidy is rare, probably because it interferes with
the sex-determination mechanism. One general effect of polyploidy is that cell size is increased,
presumably because there are more chromosomes in the nucleus. Often this increase in size is
correlated with an overall increase in the size of the organism. Polyploid species tend to be larger
and more robust than their diploid counterparts. These characteristics have a practical
significance for humans, who depend on many polyploid plant species for food. These species
tend to produce larger seeds and fruits, and therefore provide greater yields in agriculture.
Wheat, coffee, potatoes, bananas, strawberries, and cotton are all poly-ploid crop plants. Many
ornamental garden plants, including roses, chrysanthemums, and tulips, are also polyploid
AUTOPOLYPLOIDY

Autopolyploidy is taxonomically defined as the presence of more than two copies of each
genome within an organism or species, where the genomes present must all originate within the
same species. Alternatively, "genetic" or "cytological" autopolyploidy is defined by polysomic
inheritance: random pairing and segregation of the four (or more) homologous chromosomes
present, with no preferential pairing partners. In this review, we provide an overview of methods
used to categorize species as taxonomic and cytological autopolyploids, including both modern
and obsolete cytological methods, marker-segregation-based and genomics methods.
Subsequently, we also investigated how frequently polysomic inheritance has been reliably
documented in autopolyploids. Pure or predominantly polysomic inheritance was documented in
39 of 43 putative autopolyploid species where inheritance data was available (91%) and in seven
of eight synthetic autopolyploids, with several cases of more mixed inheritance within species.
We found no clear cases of autopolyploids with disomic inheritance, which was likely a function
of our search methodology. Interestingly, we found seven species with purely polysomic
inheritance and another five species with partial or predominant polysomic inheritance that
appear to be taxonomic allopolyploids. Our results suggest that observations of polysomic
inheritance can lead to relabeling of taxonomically allopolyploid species as autopolyploid and
highlight the need for further cytogenetic and genomic investigation into polyploid origins and
inheritance types.
ALLOPOLYPLOIDY

Allopolyploidy is a type of polyploidy where an organism contains multiple sets of

chromosomes from different species. It typically occurs when two different species hybridize,
and the resulting hybrid undergoes genome duplication, resulting in a polyploid organism with
chromosomes from both parental species. This phenomenon is common in plants and can lead to
the formation of new species with unique genetic characteristics.
EXAMPLE: Wheat: Bread wheat (Triticum aestivum) is an example of allopolyploidy. It
originated from the hybridization of three different species: Triticum urartu, Aegilops speltoides,
and Aegilops tauschii. This resulted in a hexaploid organism with six sets of chromosomes.

ANEUPLOIDY

Aneuploidy describes a numerical change in part of the genome, usually a change in the dosage
of a single chromosome. Individuals that have an extra chromo-some, are missing a
chromosome, or have a combination of these anomalies are said to be aneuploid. This definition
also includes pieces of chromosomes. Thus, an individ-ual in which a chromosome arm has been
deleted is also considered to be aneuploid.
Aneuploidy was originally studied in plants, where it was shown that a chromosome imbalance
usually has a phenotypic effect. The classic study was one by Albert Blakeslee and John Belling,
who analyzed chromosome anomalies in Jimson weed, Datura stramonium. This diploid species
has 12 pairs of chromosomes, for a total of 24 in the somatic cells. Blakeslee collected plants
with altered phenotypes and discovered that in some cases the phenotypes were inherited in an
irregular way. These peculiar mutants were apparently caused by dominant factors that were
transmitted primarily through the female. By examining the chromosomes of the mutant plants,
Belling found that in every case an extra chromosome was present. Detailed analysis established
that the extra chromosome was different in each mutant strain. Altogether there were 12 different
mutants, each corresponding to a triplication of one of the Datura chromosomes. Such
triplications are called trisomies. The transmissional irregularities of these mutants were due to
anomalous chromosome behavior during meiosis.
TRISOMY IN HUMANS

The best-known and most common chromosome abnormality in humans is Down syndrome, a
condition associated with an extra chromosome 21. This syndrome was first described in 1866
by a British physician, Langdon Down, but its chromosomal basis was not clearly understood
until 1959. People with Down syndrome are typically short in stature and loose-jointed,
particularly in the ankles; they have broad skulls, wide nostrils, large tongues with a distinctive
furrowing, and stubby hands with a crease on the palm. Impaired mental abilities require that
they be given special education and care. The life span of people with Down syndrome is much
shorter than that of other people. Down syndrome individuals also almost invariably develop
Alzheimer’s disease, a form of dementia that is fairly common among the elderly. However,
people with Down syndrome develop this disease in their fourth or fifth decade of life, much
sooner than other people.
The extra chromosome 21 in Down syndrome is an example of a trisomy. The karyotype of a
female Down patient. Altogether, there are 47 chromosomes, including two X chromosomes as
well as the extra chromosome 21. The karyotype of this individual is therefore written 47, XX,-
21.
KARYOTYPE OF DOWN’S SYNDROME
KLINEFELTER’S SYNDROME

The 47, XXY karyotype is also a viable trisomy in humans. These individuals have three sex
chromosomes, two X’s and one Y. Phenotypically, they are male, but they can show some
female secondary sexual characteristics and are usually sterile. In 1942 H. F. Klinefelter
described the abnormalities associated with this condition, now called Klinefelter syndrome;
these include small testes, enlarged breasts, long limbs, knock-knees, and underdeveloped body
hair. The XXY karyotype can originate by fertilization of an exceptional XX egg with a Y-
bearing sperm or by fertilization of an X-bearing egg with an exceptional XY sperm. The XXY
karyotype accounts for about three-fourths of all cases of Klinefelter syndrome. Other cases
involve more complex karyotypes such as XXYY, XXXY, XXXYY, XXXXY, XXXXYY, and
XXXXXY. All individuals with Klinefelter syndrome have one or more Barr bodies in their
cells, and those with more than two X chromosomes usually have some degree of mental
impairment.
The 47, XYY karyotype is another viable trisomy in humans. These individuals are male, and
except for a tendency to be taller than 46, XY men, they do not show a consistent syndrome of
characteristics. All the other trisomies in humans are embry-onic lethals, demonstrating the
importance of correct gene dosage. Unlike Datura, in which each of the possible trisomies is
viable, humans do not tolerate many types of chromosomal imbalance.

KARYOTYPE OF KLINEFELTER’S SYNDROME

TURNER’S SYNDROME
Turner first described the condition in 1938; thus, it is now called Turner syndrome. 45, X
individuals can originate from eggs or sperm that lack a sex chromosome or from the loss of a
sex chromosome in mitosis sometime after fertilization. This latter possibility is supported by the
finding that many Turner individuals are somatic mosaics. These people have two types of cells
in their bodies; some are 45, X and others are 46, XX. This karyotypic mosaicism evidently
arises when an X chromosome is lost during the development of a 46, XX zygote. All the
descendants of the cell in which the loss occurred are 45, X. If the loss occurs early in
development, an appreciable fraction of the body’s cells will be aneuploid and the individual will
show the features of Turner syndrome. If the loss occurs later, the aneuploid cell population will
be smaller and the severity of the syndrome is likely to be reduced. For a discussion of
procedures used to detect aneuploidy in human fetuses, see the Focus on Amniocentesis and
Chorionic Biopsy.
DELETION

A missing chromosome segment is referred to either as a deletion or as a deficiency. Large

deletions can be detected cytologically by studying the banding patterns in stained chromosomes,
but small ones cannot. In a diploid organism, the deletion of a chromosome segment makes part
of the genome hypoploid. This hypoploidy may be associated with a phenotypic effect,
especially if the deletion is large. A classic example is the cri-du-chat syndrome (from the French
words for “cry of the cat”) in humans. This condition is caused by a deletion in the short arm of
chromosome 5. The size of the deletion varies. Individuals heterozygous for the deletion and a
normal chromosome have the karyotype 46 del(5)(p14), where the terms in parentheses indicate
that bands in region 14 of the short arm (p) of one of the chromosomes 5 is missing. These
individuals may be severely impaired, mentally as well as physically; their plaintive, catlike
crying during infancy gives the syndrome its name.
Deletions and duplications are two types of aberrations in chromosome structure.Large
aberrations can be detected by examination of mitotic chromosomes that have been stained with
banding agents such as quinacrine or Giemsa. However, small aberrations are difficult to detect
in this way and are usually identified by other genetic and molecular techniques. The best
organism for studying deletions and duplications is Drosophila, where the polytene
chromosomes afford an unparalleled opportunity for detailed cytological analysis.

DUPLICATION

Duplicated segments can also be recognized in polytene chromosomes. Figure shows a tandem
duplication of a segment in the middle of the X chromosome of Drosophila. Because tandem
copies of this segment pair with each other, the chromosome appears to have a knot in its middle.
The Bar eye mutation in Drosophila is associated with a tandem duplication. This dominant X-
linked mutation alters the size and shape of the compound eyes, transforming them from large,
spherical structures into narrow bars. In the 1930s C. B. Bridges analyzed X chromosomes
carrying the Bar mutation and found that the 16A region, which apparently contains a gene for
eye shape, had been tandemly duplicated. Tandem triplications of 16A were also observed, and
in these cases the compound eye was extremely small—a phenotype referred to as double-bar.
The severity of the mutant eye phenotype is therefore related to the number of copies of the 16A
region clear evidence for the importance of gene dosage in determining a phenotype. Many other
tandem duplications have been found in Drosophila, where polytene chromosome analysis makes
their detection relatively easy. Today, molecular techniques have made it possible to detect very
small tandem duplications in a wide variety of organisms. For example, the genes that encode the
hemoglobin proteins have been tandemly duplicated in mammals. Gene duplications appear to be
relatively common and provide a significant source of variation for evolution.
INVERSION

An inversion occurs when a chromosome segment is detached, flipped around 180, and
reattached to the rest of the chromosome; as a result, the order of the segment’s genes is
reversed. Such rearrangements can be induced in the laboratory by X-irradiation, which breaks
chromosomes into pieces. Sometimes the pieces reattach, but in the process a segment gets
turned around and an inversion occurs. There is also evidence that inversions are produced
naturally through the activity of transposable elements—DNA sequences capable of moving
from one chromosomal position to another. Sometimes, in the course of moving, these elements
break a chromosome into pieces and the pieces reattach in an aberrant way, producing an
inversion. Inversions may also be created by the reattachment of chromosome fragments
generated by mechanical shear, perhaps as a result of chromosome entanglement within the
nucleus. No one really knows what fraction of naturally occurring inversions is caused by each
of these mechanisms.

- PERICENTRIC AND PARACENTRIC INVERSIONS

Cytogeneticists distinguish between two types of inversions based on whether

or not the inverted segment includes the chromosome’s centromere. Pericentric
inversions include the centromere, whereas paracentric inversions do not.
The consequence is that a pericentric inversion may change the relative lengths of the two
arms of the chromosome, whereas a paracentric inversion has no such effect. Thus, if an
acrocentric chromosome acquires an inversion with a breakpoint in each of the
chromosome’s arms (that is, a pericentric inversion), it can be transformed into a
metacentric chromosome. However, if an acrocentric chromosome acquires an inversion
in which both of the breaks are in the chromosome’s long arm (that is, a paracentric
inversion), the morphology of the chromosome will not be changed. Hence, with the use
of standard cytological methods, pericentric inversions are much easier to detect than
paracentric inversions.
TRANSLOCATION
A translocation occurs when a segment from one chromosome is detached and reattached to a
different (that is, nonhomologous) chromosome. The genetic significance is that genes from one
chromosome are transferred to another. When pieces of two nonhomologous chromosomes are
interchanged without any net loss of genetic material, the event is referred to as a reciprocal
translocation. Figure shows a reciprocal translocation between two large autosomes. These
chromosomes have interchanged pieces of their right arms. During meiosis, these translocated
chromosomes would be expected to pair with their untranslocated homologues in a cruciform, or
crosslike, pattern. The two translocated chromosomes face each other opposite the center of the
cross, and the two untranslocated chromosomes do likewise; to maximize pairing, the
translocated and untranslocated chromosomes alternate with each other, forming the arms of the
cross. This pairing configuration is diagnostic of a translocation heterozygote. Cells in which the
translocated chromosomes are homozygous do not form a cruciform pattern. Instead, each of the
translocated chromosomes pairs smoothly with its structurally identical partner.
Robertsonian Translocation:

Robertsonian translocation occurs when breaks occur at the centromeres of two acrocentric
chromosomes (chromosomes with the centromere near one end), resulting in the fusion of the
long arms of the chromosomes.This type of translocation is commonly found in individuals with
Down syndrome.

Familial Down Syndrome:

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or
part of a third copy of chromosome 21.Familial Down syndrome occurs when one of the parents
carries a Robertsonian translocation involving chromosome 21.Due to this translocation, the
parent has a balanced rearrangement of genetic material, but there is a risk of producing gametes
(sperm or egg cells) with unbalanced arrangements, leading to offspring with Down syndrome.

Cancer and Translocation:

Translocations can also play a role in the development of cancer.In cancer cells, translocations
can lead to the fusion of genes from different chromosomes, resulting in the formation of fusion
genes.Fusion genes can produce abnormal proteins or disrupt normal cellular processes,
contributing to the uncontrolled growth of cancer cells.

Examples (Rhoeo, Oenothera):

Rhoeo: It's worth mentioning that Rhoeo discolor is a plant species known for its large
chromosomes, making it useful for studying chromosomal structures and phenomena like
translocation.
Oenothera: In Oenothera, commonly known as evening primrose, researchers have studied
chromosomal rearrangements, including translocations, to understand patterns of inheritance and
genetic variation.
Connecting all these points, we see that translocations can have diverse effects, ranging from
genetic disorders like Down syndrome to contributing to the development of cancer.
Understanding translocations and their consequences is crucial in both medical genetics and
cancer research.
REFERENCES:

Principles of genetics- sixth edition, snustard – simmons

https://www.biologyonline.com/dictionary/autopolyploidy
Class 12th Biology NCERT Book