Numerical chromosomal changes

Variations in chromosome number can be classified into two basic types:

1. Changes in the number of individual chromosomes (aneuploidy)
2. Changes in the number of chromosome sets (polyploidy)

 2n represents the somatic chromosome number

 n represents the gametic chromosome number of a species, whether diploid or
polyploid
 x is the basic chromosome number or genomic number
Types of Aneuploidy:
1) nullisomy
2) monosomy
3) Trisomy
4) tetrasomy
1. Nullisomy is the loss of both members of a homologous pair of chromosomes. It is
represented as 2n -2, where n refers to the haploid number of chromosomes. Thus, among
humans, who normally possess 2n = 46 chromosomes, a nullisomic person has 44
chromosomes.
2. Monosomy is the loss of a single chromosome, represented as 2n - 1. A monosomic
person has 45 chromosomes.
3. Trisomy is the gain of a single chromosome, represented as 2n +1. A trisomic person has
47 chromosomes. The gain of a chromosome means that there are three homologous
copies of one chromosome.
4. Tetrasomy is the gain of two homologous chromosomes, represented as 2n+2. A
tetrasomic person has 48 chromosomes. Tetrasomy is not the gain of any two extra
chromosomes, but rather the gain of two homologous chromosomes; so there will be four
homologous copies of a particular chromosome.
More than one aneuploid mutation may occur in the same individual. An individual
that has an extra copy of two different (nonhomologous) chromosomes is referred to as
being double trisomic and represented as 2n+1+1. Similarly, a double monosomic has two
fewer nonhomologous chromosomes (2n-1-1), and a double tetrasomic has two extra pairs
of homologous chromosomes (2n +2+2).
Types of trisomic:
1. Primary trisomic (n types)
2. Secondary trisomic (2n types)
3. Tertiary trisomic (invariable in
number)
Aneuploids can be produced through nondisjunction in (a) meiosis I (b) meiosis II (c)
mitosis. The gametes that result from meiosis with nondisjunction combine with gamete
(with blue chromosome) that results from normal meiosis to produce the zygotes.
Production of Aneuploidy:
 A chromosome may be lost in the course of mitosis or meiosis if, for example, its
centromere is deleted. Loss of the centromere prevents the spindle fibers from
attaching; so the chromosome fails to move to the spindle pole and does not
become incorporated into a nucleus after cell division.
 The small chromosome generated by a Robertsonian translocation may be lost
in mitosis or meiosis.
 Aneuploids may arise through nondisjunction, the failure of homologous
chromosomes or sister chromatids to separate in meiosis or mitosis.
Nondisjunction leads to some gametes or cells that contain an extra
chromosome and others that are missing a chromosome
 3:1 disjunction in a translocation heterozygote give rise to tertiary trisomics and
monosomics.
 Progeny from a cross between tetrasomic (2n+2) and a normal disomic plant
(2n) show a high frequency of trosomics
Effect of enuploidy
 Aneuploidy usually alters the phenotype drastically.
 In most animals and many plants, aneuploid mutations are lethal.
 Aneuploidy affects the number of gene copies but not their nucleotide
sequences, the effects of aneuploidy are most likely due to abnormal gene
dosage.
 Aneuploidy alters the dosage for some, but not all, genes, disrupting the
relative concentrations of gene products and often interfering with normal
development.
Anuploidy in human
 In humans, a sex-chromosome monosomic complement of 44 autosomes + 1 X
produces a phenotype known as Turner syndrome. 
 Affected people have a characteristic, easily recognizable phenotype: they are
sterile females, are short in stature, and often have a web of skin extending
between the neck and shoulders.
 Viable trisomics in humans. The combination XXY results in Klinefelter
syndrome, males with lanky builds who are mentally retarded and sterile .
 The most common type of viable human aneuploid is Down syndrome, arises due
to trisomy of 21st autosomal chromosome. The phenotype of Down syndrome
include mental retardation (with an IQ in the 20- to-50 range); a broad, flat face;
eyes with an epicanthic fold; short stature; short hands with a crease across the
middle; and a large, wrinkled tongue.
 The only other human autosomal trisomics to survive to birth are those with
trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome). Both show
severe physical and mental abnormalities.
Characteristics of Turner syndrome
The condition results from the presence
of a single X chromosome (XO).
Characteristics of Klinefelter syndrome (XXY)
Characteristics of Down syndrome (trisomy 21)
Polyploidy
 Most eukaryotic organisms are diploid (2n) for most of their life cycles, possessing
two sets of chromosomes.
 Occasionally, whole sets of chromosomes fail to separate in meiosis or mitosis,
leading to polyploidy, the presence of more than two genomic sets of chromosomes.
 Polyploids include triploids (3n) tetraploids (4n), pentaploids (5n), and even higher
numbers of chromosome sets.
 Polyploidy is common in plants and is a major mechanism by which new plant
species have evolved.
 Approximately 40% of all flowering-plant species and from 70% to 80% of grasses are
polyploids (wheat, oats, cotton, potatoes, and sugar cane)
 Polyploidy is less common in animals, but is found in some invertebrates, fishes,
salamanders, frogs, and lizards.
 Two major types of polyploidy:
 autopolyploidy, in which all chromosome sets are from a single genome
 allopolyploidy, in which chromosome sets are from two or more genome
Autopolyploidy
 Autopolyploidy results when accidents of meiosis or mitosis produce extra sets of
chromosomes, all derived from a single species.
 Nondisjunction of all chromosomes in mitosis in an early 2n embryo, for example,
doubles the chromosome number and produces an autotetraploid (4x).
 An autotriploid may arise when nondisjunction in meiosis produces a diploid gamete
that then fuses with a normal haploid gamete to produce a triploid (3x) zygote.
 Triploids may arise from a cross between an autotetraploid that produces 2x
gametes and a diploid that produces 1x gametes.
 Because all the chromosome sets in autopolyploids are from the same species, they
are homologous and attempt to align in prophase I of meiosis, which usually results
in sterility.
 In autotriploids, no matter how the three homologous chromosomes align, their
random segregation will create unbalanced gametes, with various numbers of
chromosomes.
 The sterility that usually accompanies autopolyploidy has been exploited in
agriculture. Wild diploid bananas (2x=22) to triploid bananas (3x= 33)
 Similarly, seedless triploid watermelons, grapes are also produced.
Autopolyploidy can arise through nondisjunction in mitosis or meiosis
In meiosis of an autotriploid, homologous chromosomes can pair or not pair in three ways
Allopolyploidy
 Allopolyploidy arises from hybridization between two species; the resulting
polyploid carries chromosome sets derived from two or more different species.
 They are functionally diploid: every chromosome has one and only one homologous
partner, which is exactly what meiosis requires for proper segregation. The
allopolyploid can now undergo normal meiosis to produce balanced gametes.
 So, they show regular bivalents at metaphase-I, also known as amphidiploids.
 Natural allopolyploids arises due to chromosome doubling of the F1 hybrids
produced through chance natural hybridization.
 Synthetic allopolyploids are produced through the use of chemical (colchicine).
 Colchicine is an alkaloid, C22H25O6N , obtained from a plant species Colchicum
autumnale.
 George Karpechenko created polyploids
experimentally in the 1920s.
 Combination of Cabbage (Brassica oleracea, 2n
=18) and radishes (Raphanus sativa, 2n =18).
 Karpechenko wanted to produce a plant that
had cabbage leaves and radish roots so that no
part of the plant would go to waste.
 Cross was successful with and the plants were
allotetraploids, with 2n=36 chromosomes.
 Karpechencko’s got great disappointment, as
the new plants possessed the roots of a
cabbage and the leaves of a radish.
Nagaharu’s U triangle

Three species of Brassica (blue boxes) and their allopolyploids (pink boxes), showing
the importance of allopolyploidy in the production of new species.
The proposed evolutionary history of modern hexaploid wheat 2n = 6x = 42
Allopolyploids
 Allopolyploidy (formation of polyploids between different species) has been
important in the production of modern crop plants.
 New World cotton is a natural allopolyploid that occurred spontaneously, as is
wheat. Allopolyploids also are synthesized artificially to combine the useful
features of parental species into one type.
 Only one synthetic amphidiploid has ever been widely used commercially, a crop
known as Triticale.
 This is an amphidiploid between wheat (Triticum spp., 6n =42) and rye (Secale, 2n
=14). Hence, for Triticale, 2n =2 x (21 + 7) =56. This novel plant combines the
high yields of wheat with the ruggedness of rye.