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Structural Changes in Chromosomes
Definition: Structural changes (aberration) in chromosomes may be defined as any visible changes
in the structure of chromosome that causes variation from the normal type condition.
Occurrence: Structural aberrations are produced by breakage of chromosomal parts and
abnormalities during rejoining of the broken pieces.
Chromosomal breakage occurs in low frequency in all plants and animals naturally due to cosmic
radiations, nutritional deficiency and ernvironmental conditions. Breaks can also be induced by
chemical mutagens (alkylating agents, insecticides, herbicides, pesticides etc) or by radiations (-ray,
Y-ray etc.).
Types: Structural aberrations are of four types, they are:
1. Deletion: Deletion removes a ABCDE FGH Deletion ABCE FgH
chromosomal segment
ABCDEFGH Duplicatlon ABCB CDE FGH
Duplication repeats a
2. Duplication: chromosomal segment
ADCBE FGH
3. Inversion:
Iavertion reversesa ARS Inverslon
chromosomal segment
ABC DE FGH MNOCDE FGH
Translocation moves a JECDD Reciprocal ED AD
4. chromosomal segment transiocatton
Translocation: to another nonhomologousE
chromosome
Here deletion (loss) and duplication (gain) involves changes in the number of genes, while inversion
(rotation of a part by 180") and translocation (exchange) involves changes in arrangement of genes.
A. Deletion:
Definition: When a chromosome breaks in one or more places and a portion of it is lost, thern the
phenomenon is referred to as a deletion (or a deficiency).
" Consequences of deletion depend on genes or part of genes. If a small part (without important
genes) is deleted, the organism may survive. However, deletion of a large portion of a
chromosome may lead to lethal consequences.
Deletion are of two types;
A. Terminal Deletion: When the lost segment is terminal with telomeric part then it is called
terminal deletion. This involves single break in the chromosome.
B. Intercalary Deletion: Here the lost segment belongs to interior of the chromosome and is
called intercalary deletion. This involves a double break and joining of the terminal parts.
Meiotic behavior: Area missing in
deleted chromosome
In individuals heterozygous for deletions, the A BC D EF
normal chromosorme must loop during the A
pairing of homologs in prophase Iof meiosis Normalchromosome Synapsis
A B
to allow the homologous regions of the two A B E F
chromosomes to align and undergo synapsis. Deleted chromosome Formation of deletion loop
This looping out generates a structure known as deletion loop.
Significance:
" Lethal effect: As deletion involves loss of genetic material, it has some deleterious effect on the
organism. The lethal effect depends on the amount and nature of genetic material lost.
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seudodominance Deletion heterozygotes have only one copy of those genes which are absent in
the chnosone wvith deletion, ln case their recessive genes are present in the normal
hnmsme they will exprss in all their offspring as if they are dominant. This phenomenon is
calki psedotominane.
Absene of crosing over Crosing over is completely absent in the region of deletion as the genes
are prent mhemizygous condition.
" Genetic disonders: h human deletion of a part of chromosome 5 results in Cri-du-chat syndrome,
while deketin of a part of short arnm of Xchromosome produces Turners syndrome.
B. Duplication:
Detinition: Duplication is a type of chromosomal aberration that results in the doubling ofa segment
ofa chnmsme.
" The sie f the duplicated segment varies widely and the duplicated segments may occur at
diterent ocatins of the genome.
Duplkations are more frequent and less deleterious than deletions. It does not affect the viability
of cells but results in abnormalities in structure and function.
Ongin: Duplication can arise in either of the two ways:
By unequal breakage of homologous chromosome and exchange and reunion of broken segments.
" By urqual crossing over between non-sister chromatids of Normal ABCDE FGH
Chromosome
two homologous chromosome when they pair during meiosis. ABC B CDEFGH
Types Based an the location of repeated segment on the Tandem
Duplication
romosome it may be of different types: Reverse Tandem A 8CCBDE FGH
A. Tandem duplication: Here the duplicated segment lies next Duplicaton
ABCD BCE FGH
to the original sequence and has gene in the same orientation. Dlaplaced
(Homobrachial)
B. Reverse tandem duplication: The duplicated segment lies D0splaced ABCDE FGBCH
next to the original sequence but with reverse orientation.
(Heterobrachial)
ABCDE FG H
C Displaced duplication: Here he duplicated segment is not
Translocation
situated adjacent to the original sequence but repeated at a Duplication MBCPOR
distant site. It may be of two types:
" Homobrachial duplication: Duplicated segment lies in the same arm with the original part.
" Heterobrachial duplication: Duplicated segment lies in different arm from the original part.
D. Translocation duplication: The duplicated segment lies in some non-homologous chromosome.
Meiotic behaviour.
Duplicated chromosome
" In the heterozygotes, problems arise in chromosome
pairing at prophase I of meiosis, because the two
Gromosomes are not homologous throughout their
length Pairing and synapsis of homologous regions Normal chromosome
require formation of chromosomes loop so that these
regions are able to align. Appearance of this characteristic Types
Loops
of Duplication
loop structure in meiosis is one way to detect duplications.
Significance
" Duplications produces less drastic or lethal effect as deletions. But some duplication producers
altered phenotypic effect. Eg. Bar eye character in Drosophila.
" Duplication provides additional copies of genes which can modify through mutation and assume
new function It provides opportunity for lethal genes to get modified into tolerable or beneficial
Ones.
" Duplication sometimes overcome the effect of deletion mutation.
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Paracentric inveralon Perlcentrla Inveralon
C. Inversion: (dooe not Inolude centromere) (Includes cantromere)
Definition: Inversion is a chromosomal change that results
when a chromosomal segment is excised and then reunited at D
an orientation of 180 from the original orientation. Thus it
reverses the gene order within the same chromosome.
Origin: Inversion arses by two breaks in the chromosome
and reunion of the interstitial fragment after rotation by 180'.
It can also arise when a chromosome become folded onto
itself and two breaks occurs. The four broken ends thus
produced undergo reunion with exchanged ends.
Types: Inversion may of the following two types:
A. Paracentric Inversion: When both the breaks occurs in the same side of the centromere, then the
inversion is known as paracentric inversion. Hence the inverted segment is without centromere.
Meiotic behaviour: Due to the presence of inverted segment, normal pairing is not possible and
pairing will take place by formation of a loop and a turn at pachytene. Asingle crossing over in
the inverted segment willresult in the formation of a dicentric chromosome (with 2 centromere)
that will form a bridge and an acentric fragment (without centromere). Of the remaining 2
chromatids one will be normal and the other will carry inversion.
B. Pericentric Inversion: In pericentric inversion, the inverted segment contains centromere, i.e. it
involves one break on either side of the centromere.
Meiotic behaviour: In pericentric inversion, pachytene configuration is same as paracentric
inversion but the crossing over products are different. Two of the resulting 4 chromatids will show
deletion or duplication, rest are normal. No dicentric bridge and acentric fragment is formed but
changes in the length of chromosome arm is produced.
Paracentric Inversion Pericentric Inversion
Normal chromosames T:1CfEGP) Normal chromosomes
Irversion chromosome AtCodEF G: Inverslon chromosomeACTc
Melosis to prophase I
Malosis to prophase I
Crossover
Crossover
AFMGh:1
Resuts of shgle crossover
2 FtG 2 between Band Cln
Random break
Acantric lragment lost Inverslon loop
in dioentric
bridge tG4
Normal product
: F Gg (all genes present) GatMG able
Segrogalion at Deleiondduplication
anaphase I product (EFGH delated,2
a 4 Inviatle
Normal product 1 AtCG Aduploated)
Inversion product
Deletion products 2 Ct t 4 (allgenes present)
Deletionvduplication
tnverslon produot product (A deleted; Iiable
(all ganes presen)
3Amtd
CHponi o: EFGH duplicaled)
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Genetics & Molecular Biology
Significance:
" Inversion helps in the origin of new species.
and support the view that only two of
Inversion provide prOof for the occurrence of rossing over
four ch°omatids undergo rossing over. and hence
Chanes of rossing over gets reduced due to inversion of homosomal segments
" trnslocaton heterorygote
considered 2s rossing over repressors. 123 4 56 789 10 11 12
D. Translocation: 123 1011 12
DefinitioTE Transocation may be defined as the
structural aberration in which there is an
12341 9 2
exchange of chromosomal segments between non pecytene
homologous chromosomes. There is no addition consguratioa 2
or deletion of genes but only rearrangement of
gere sequences takes place
Types: Translocation are of the following types:
" Non-reciprocal translocation Here a segnent
of ccromosome moves from one chromosome mtaphase
plete
to another. If he segment moves to the same
chromosome then it is known as nan-reciprocal
intrachromosomal translocation. If it is
transferred to another chromosone then it is Adjacent l-Adjacent I |
Alternate
known as non-reciprocal interchromosomal 12 34 5612 345 78910 11 12
translocation. 789 10 11 12 123 101113 123 10 11 12
" Reciprocal translocation: Here exchange of -unctional noafunctionel nonfunctonal
hromosomal segment takes plae between 1231o5 1 12 7891011 12 12 3 4 56
two non-homologous chromosomes. It is more 789463 78 9 4 5 789 466
frequent and are produced by single break in tunciona noaluoctional nonfunctional
goetes garnetes
each of the contributing hromosome. If
translocation is present in one of the two sets of chromosome then it is known as translocation
heterozygote.
Meiotic behaviour
" In translocation heterozygotes, normal pairing of homologous chromosome into bivalents is not
passible and will forma ross shaped structure involving four chromosome at pachytene.
At metaphase I, the four cronosome have any one of the three orientation:
A. Alternate In this configuration, alternate chromasome will get oriented towards same pole
and adjacent chramosomes will orient towards opposite pole.
B. Adjacent I Hee adjacent hromosone with non-homoBogous centromere will orient towards
same pole. A ring of 4 chromosome will be observed.
c Adjacent IE Here adjacent chromosome with homologous centromene will orient towards
same pole. A ring of 4 chromosome will be observed.
" Oniy ahemate dijunctions wil produce functional (viabie) gametes while both the adjacent
disjunctions will produce gametes that carry duplications or deletions and would be non
funcional or sterile
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