LECTURE-6

PART- I CYTOGENETICS
TRANSLOCATIONS
Chromosomal aberrations
2. Translocation – definition and types
Definition: Translocation involves the movement of a chromosomal
segment from one chromosome to a non-homologous
chromosome.
Types of translocation
1. Shift translocation: one segment breaks and reunites onto
another chromosome (rare)
2. Reciprocal translocation: Exchange of segments between
two non-homologous chromosomes (common)
Chromosomal aberrations
2. Translocation – Origin

Shift (non-reciprocal) translocation

Chromosomal aberrations
2. Translocation – definition and types
Reciprocal translocation

Two non-homologous
chromosome arms come
close together and
exchange material.
Chromosomal aberrations
3. 1 Translocation - Cytological Diagnosis

Diagnosis
Cytological detection:
Karyotype (mitotic metaphase)
– Changes in chromosomal shape and size.
– Changes in banding pattern
– Loss of chromosomes (if centromere is transferred)

Meiotic chromosomes
- Reciprocal translocations form cross-shaped
configurations in translocation heterozygotes.
 Chromosomal aberrations
3.1 Translocation – Cytological Diagnosis (Meiosis)

Crisscross pairing of the two pairs of homologues of translocation heterozygotes.

Chromosomal aberrations
3.2. Translocations- Diagnosis- genetic detection
Genetic detection:

1. Translocations are hard to detect phenotypically, since no

gene is lost or gained (those with chromosome losses die).
2. Translocation homozygotes are fully fertile, but translocation
heterozygotes are partially sterile.
3. Genes in the translocated chromosomes do not assort
independently. Recombination of genes are severely
restricted.
4. Changes in linkage relationship between genes and
associated position effects.
Chromosomal aberrations
4. Inheritance of translocations
1. Translocation homozygotes - form bivalents during meiosis
- equal separation (anaphase-1) – balanced gametes –fully fertile

2. Normal homozygotes - form bivalents during meiosis

- equal separation (anaphase-1) – balanced gametes – fully fertile

3. Translocation heterozygotes – form tetravalents as a result of

crisscross pairing – three types of segregation during meiosis
Adjacent-1 = unbalanced gametes (sterile)
Adjacent-2 = unbalanced gametes (sterile)
Alternate = balanced gametes (fertile)
Inheritance of
translocation
heterozygotes
 Chromosomal aberrations
4. Inheritance of translocation heterozygotes
Alternate segregation: - alternate centromeres
go to the same pole in a zigzag configuration
- translocated and non-translocated chromosomes
go to opposite poles
- balanced gametes fully fertile

Adjacent-I segregation: - Adjacent non-homologous centromeres move to the same pole

- Mediated through an ‘O’ shaped configuration.
- Each gamete contains a translocated and a
non-translocated chromosome
- All gametes are sterile due to duplication and deletions

Adjacent-2 segregation - Adjacent homologous centromeres go to the same pole.

– uncommon compared to others. Mediated through the
‘O’ shaped configuration.
- All sterile due to duplications and deletions
Chromosomal aberrations
4. Inheritance of translocation heterozygotes
Note: Generally adjacent and alternate segregation take place 50% of the times,
so 50% of the gametes are sterile.

Note: In barley and wheat, evolution has selected for alternate segregation and
hence translocation heterozygotes are highly fertile.

Note: In plants unbalanced gametes are sterile. Hence gametophytes act as a

screen to eliminate translocations.
In animals the unbalanced gametes are functional but result in zygote
inviability.
Complementation of duplication and deficiencies in the male and female
gametes lead to occasionally normal zygotes.
Chromosomal aberrations
4. Inheritance of translocation heterozygotes
.
alternate adjacent-1 adjacent-II
1 2 1' 2' 1 2' 1' 2 1 1' 2' 2

1 2 norm transhet
alternate
1' 2' transhet transhom

1 2' tranhet
adjacent-1
1' 2 transhet

adjacent-II 1 1' transhet

2' 2 transhet
Chromosomal aberrations
5. Violation of independent assortment
. Chromosome-1 Chromosome-2
P΄ = purple R΄ = Round
p = white r = wrinkled

Normal Trans homozygote

pp rr x P΄P΄ R΄R΄
P΄p R΄r Translocation heterozygote
If there is independent assortment testcross should give a 1:1:1:1 ratio.
However, only P΄R΄ and pr gametes will survive and hence 1:1 ratio.
Note: No recombinants have been formed.

Conclusion: This shows that genes residing on translocated chromosomes do not show
independent assortment, whether they are in the translocation or not.
 Chromosomal aberrations
5. Violation of independent assortment
Multiple translocation systems in Oenothera
- Has 7 pairs of chromosomes, of which 6 pairs are involved in
translocation. Exists as a translocation heterozygote.

- During meiosis only one pair forms a bivalent, the others form a ring.

- The six pairs of chromosomes function as a single linkage group.

- One group is translocated, the other non-translocated.

- Normal homozygotes and translocation homozygotes do not survive

due to deleterious recessives.

- Survives as a translocation heterozygote with restricted recombination.

Chromosomal aberrations
6. Evolutionary significance

Translocation homozygotes
Normal homozygotes Fully fertile

Translocation heterozygotes - Partially sterile (50%).

Hence natural selection will operate against translocation heterozygotes.

Translocation homozygotes will eventually form a distinct mutually interbreeding

genetic stock, which will eventually lead to speciation.

Lack of recombination between translocated and normal chromosomes also leads

to evolutionary divergence between the two stocks.
 Chromosomal aberrations
5. Robertson translocation (shift translocation)

There are three # 21 chromosomes, just like there are in trisomy 21, but one of the
21 chromosomes is attached to another chromosome, instead of being separate.
The extra copy of the # 21 chromosome is what causes the health problems that are
associated with Familial Down Syndrome.
Down syndrome results from trisomy of chromosome 21; 1:1000 newborns.
 Chromosomal aberrations
6. Role of translocation in insect control

Translocation homozygotes are bred in the laboratory and released

when there is a severe pest problem.

When the released insects mate with the normal population

Translocation heterozygotes are formed which are 50% sterile.

Similarly 10/16 of the progeny of crosses between translocation

bearing insects would die, leading to a crash in the population.

(Reason: Translocation heterozygotes result in 50% alternate segregation

and 50% adjacent-1 segregation. Hence out of 16 possible gametes, only 6
are functional, the other 10 are sterile). See table in next slide.
Chromosomal aberrations
6. Role of translocation in pest control

alternate adjacent-1 adjacent-II

1 2 1' 2' 1 2' 1' 2 1 1' 2' 2

1 2 norm transhet - -
alternate
1' 2' transhet transhom - -

1 2' - - - tranhet
adjacent-1
1' 2 - - transhet -

adjacent-II 1 1' transhet

2' 2 transhet