Chromosomes
are the structures which carry genes in a definite linear order. Chromosomes
have a definite structure and organization, which is normally constant from one
cell division to the next. They, however, sometimes undergo certain structural
modifications which are known which are known as chromosomal aberrations.
Since, these modification also result in a change in the organism, they are
also called chromosomal mutations.
Breakage
Fusion-Bridge Cycles:
Breaks in
the chromosome are necessary for any structural changes. After break the
chromosome may remain un united. When this happens, the part of the chromosome
without the centromere is lost, since, spindle fibres attach only to the
centromere.
Sometimes,
the broken ends may join immediately and the original chromosome is restored
(restitution). At other times, the broken ends may join the segments produced
by other breaks (non-restitutional union), resulting in structural changes.
McClinctok
studied the broken ends of chromosomes in the maize. A chromosome break occurs,
and is followed by duplication of the chromosome during prophase. As a result,
two chromatids are formed. The broken ends of the chromatids behave as if they
are ‘sticky’, and undergo fusion. This results in the formation of a chromatid
with two centromere (dicentric chromatid). During anaphase, spindle fibres are
attached to the two centromeres. As a result, the chromatid stretches out,
forming a bridge from one pole to the other. This bridge may break, but at
different point, producing a deficiency and a duplication.
Chromosomal
abberations are of four types : 1. Deletions or Deficiencies, 2. Duplications,
3. Inversions, and 4. Translocations.
Deficiencies:
Loss of
chromosomal segment resulting in the loss of genes is called as Deficiency or
Deletion. The deleted portion will not survive in the higher organisms if it
lacks a centromere, because it will have no capacity for movement in Anaphase.
The portion of the chromosome carrying the centromere functions as a
genetically deficient chromosome.
Deficiencies
can be terminal or interstitial.
If the
single break occurs near the end of the chromosome, it is called terminal
deletion. Generally, if a terminal break occurs the broken piece attaches to
the terminal portion of the same chromosome. When restitution takes place no
change is observed in the chromosome.
But
sometimes, the broken fragment do not join. If the broken fragment do not
contain a centromere, then it will not go to the either of the poles as spindle
fibres cannot attach to it. Then this fragment ultimately disappear in the
cytoplasm.
Sometimes,
two breaks occur at any two points, releasing an intercalary segment. The
broken ends of the original chromosomes may again fuse, resulting in an
intercalary or interstitial deficiency.
Both
terminal and intercalary deficiencies can be observed during pachytene stage of
meiosis or in the polytene Chromosomes. Pairing of chromosomes takes place
chromomere to chromomere. If a segment is missing from the chromosome, then the
homologous chromosome containing this segment will form a loop during pairing.
This is called deletion loop.
A deletion
represent a quantitative change in the genotype in that it involves the loss of
of genetic material, so it would be expected that deficiencies would have
deleterious effect on an organism, the effect depending upon the amount of
genetic material and it's specific function.
Deletions,
unlike, other mutations generally donot revert, or mutate back, to the wild
type chromosome.
In
deletion heterozygotes, recessive alleles on the normal Chromosomes are
expressed because the deletion chromosome is missing the homologous regions.
Expression of recessive alleles in such cases, is called pseudo dominance.
A well
known example in the humans is the deletion of one half of the short arm of
chromosome 5 (5p) which, when heterozygous, causes the Cri- du- chat ( cry - of
the - cat) syndrome. Infants with this syndrome
generally have characteristic high-pitched, cat like cry as well as
microcephally (small head) and several mental retardation.
Duplications:
when a chromosomal segment is represented twice, it is called as duplications.
duplications originates out of unequal crossing over. There are 4 types of
duplications
1.
Tanden Duplication:
the
duplication is present adjacent to the original chromosomal region in the same
order as the original sequence, then this type of duplications are called
tandem duplications.. for example, if duplication repeat is ABC, a tandem
dulication will be ABC ABC, DEF.
2.Reverse
Tandem Duplication:
the
duplication is present adjacent to the original chromosomal region but in the
reverse order of the original sequence, then this type of duplications are
called Reverse Tanden Duplications. For example, if the duplication repeat is
ABC, a reverse tandem duplication will be ABC CBA DEF.
3.
Displaced Duplication:
The
duplicated chromosomal segment is located on the same chromosome but away from
the original segment i.e., the duplicated region is not present adjacent to the
original segment., resulting in a displaced duplication.
4.
Transposed Duplication:
The
duplicated chromosomal segment is located on a non-homologous chromosome.
when
an individual is heterozygous for a duplication and normal chromosome, the
duplicated region doesnot have a homologous segment to pair with in Meiosis. As
a result a loop of the duplicated region may develop.
one
of the classical examples of duplication in Drosopohila is Bar eye character.
the wild type eye is large and has an average 779 facets or ocelli. it has two
bar region, one on each X chromosome. by the study of gaint salivary gland
chromosomes, it could be demonstrated that 'Bar' character was due to a
duplication in region 16A of X-chromosome. the normal males have 16A region
represented once, Bar-males has two Bar regions with elongated eyes with 358
facets and Bar-Double males has three Bar regions with 45 facets.
in
females, the wild B+/B+ has nearly 800 facets in each of
its eyes; in the heterozygote B/ B+ , the number is reduced to about 360; while
the homozygous B/B, the eye is reduced to about 70 facets, arranged in long,
narrow eye structure..
As
might be expected, duplications are observed more frequently in nature and are
less likely to be lethal to the individual than are deficiencies.
Inversions:
Most of the homologous chromosomes in a population
have genes in the same sequence. However, sometimes the sequence of genes in a
chromosome is altered by the rotation of a chromosome segment through 1800.
Alterations in the sequence of genes is called inversions.
So, in inversions a chromosome segment
contains genes in a sequence which is reverse of normal. For example if a
chromosome having gene alignment a b c d e f g h i, breaks at two points
b and g and the middle segment c d e f g undergoes inversion, then an inverted
chromosome segment if formed with the sequence a b g f e d c h i.
Due to inversions there is no increase
or decrease in number of genes. Only re-arrangement of genes occur. Inversions are of two types:
Paracentric Inversion:
When both the breaks in the chromosome
occur on the same side of the centromere, i.e., the inverted segment does not
contain centromere, then such type of inversions are called paracentric
inversions.
Pericentric Inversion:
(peri=around).
The inverted segment contains the
centromere i.e., it involves the one break on either side of the centromere.
Inversions arise by the formation of
loops on a chromosome. Breaks may occur at the point of intersection of the
loops. Reunion of the broken ends takes place in a new combination, and an
inversion results. The paracentric inversion results in an acrocentric
chromosome just like the non-inverted chromosome, but that the pericentric
inversion results in a metacentric chromosome, because the position of the
centromere has been changed.
Individual heterozygous for an inversion
can be recognized by the presence of inversion loop in meiotic pachytene
chromosomes. These structures occur because of the affinity of the two
homologous, and the only way two homologous can pair is if one twists on itself
and makes a loop while the other makes a loop without twist.
In paracentric inversion, a single cross
over or an odd number of cross overs in inverted region results in the
formation of a dicentric chromosome (having two chromosomeres) and an acentric
fragment (with no centromere). The dicentric chromosome and acentric fragments
are observed at anaphase-I, in the form of anaphase bridge and fragment.
Crossing over within and outside inversion lead to various kinds of
deficiencies and duplications.
Inversions reduce the frequency of
recombination between any two genes. Thus, they are called cross over
suppressors.
Translocations:
When a segment of one chromosome is detaches
and joins to a non-homologous chromosome, it is called translocation. It is
different from crossing over, which involves an interchange between segments of
homologous chromosomes.
There is no addition or loss of genes
during translocation, only a re-arrangement i.e., change in the sequence and
position of a gene, occurs.
Translocations are of the following
types:
Simple translocations:
A single break occur in a chromosome.
The broken segment gets attached to one end of a non-homologous chromosome.
This type of translocations are very rare.
Shift translocation:
A chromosome breaks at two places. A
simple break occurs in the other non-homologous chromosome. The broken part
gets inserted interstitially in a non homologous chromosome.
Reciprocal translocation:
A segment from one chromosome is
exchanged with a segment from another non-homologous chromosome, such type of
translocation are called as reciprocal translocations. As a result, two
translocation chromosomes are simultaneously achieved.
Reciprocal translocations are of two
types:
a. Homozygotic
translocation:
Tranlocation involves both the
members of each of the homologous chromosomes. This type of translocation
occurs rarely, and exhibit normal meiotic behaviour. Hence, they are difficult
to detect cytologically unless morphologically dissimilar chromosomes are
involved.
b. Heterozygotic
translocation:
Translocation involves only one
member of each of the homologous pair.
Normal pairing into bivalents will
not be possible among chromosomes involved in heterozygotic translocation. Due
to pairing between homologous segments of chromosomes, a cross shaped (+) figure
involving four chromosomes will be observed during pahcytene.