EXAMPLE:

▓ 2n = 24 ; n =24/2 => 12
LECTURE 9: MUTATIONS
▓ X (1……….12) 12 bivalents
▓ X (1……….12)
Mutations are changes in the organism that are ▓ Chromosome configuration
heritable and essentially permanent  Diakinesis/ metaphase 1 =
12 II
Types of Chromosomal  Anaphase I = 12 I per pole
Mutations  Telophase 1 = n=12 (fertile
Variation in Genome Structure or Numerical gametes)
Changes of the Chromosomes

EUPLOIDY refers to the changes Type F Chromosome Complement

involving the whole genome or the Mono n (1234)
Di 2n (1234) (1234)
entire set of chromosomes
Autotri 3n (1234) (1234) (1234)
ANEUPLOIDY occurs when one or
Autotetra 4n (1234) (1234) (1234) (1234)
more chromosomes of a normal set Allotetra 4n (1234) (1234) (5678) (5678)
(genome) are lacking or are present in
excess. The nuclei, therefore will contain
chromosomes whose numbers are not MONOPLOIDS are organisms that
multiples of the genome. In other have only a set of chromosomes.
words, it is characterized by incomplete ▓ Meosis is abnormal
genome ▓ Synapsis is absent because of the
STRUCTUAL CHANGES absence of homologous pairs
INVOLVING ONE OR MORE ▓ Lag during anaphase 1
CHROMOSOMES ▓ Sister chromatids may separate at
Meiosis I
▓ Almost completely sterile
EUPLOIDY POLYPLOIDS are organisms with the
Genome (x) cells containing three or more sets of
▓ also referred to as basic chromosomes of genomes.
chromosome number ▓ AUTOPOLYPLOIDY is a
▓ complete set of chromosomes or polyploidy due to the
genes from male or female multiplication of one basic
parent. genome
▓ Represented by capital letters ▓ ALLOPOLYPLOID is a
▓ AA AABBDD AABB polyploid which the genomes
▓ True diploid making up the multiple sets are
 x=n; n=haploid # not identical.
▓ in polyploid, x is not equal to n.
 Karpechenko in 1927 by hybridizing
raddish with cabbage
TRIPLOIDS (3X) – bananas, hyacinth,
Winesap apples, European Pears P1 and P2: Raphanus sativus x Brassica
▓ Musa Balbisiama saba - BBB Oleracea
▓ M. acunminata x M. balbisiama (SS; 2n = 18) (TT; 2n = 18)
▓ ABB – latundang puti Chromosome 9 II 9 IIB
TETRAPLOIDS (4X) – potato, alfafa, Configuration
coffee, peanuts

You can’t use autotriploid to rice because seeds

Gametes: 9 IR 9 IB
gametes would be sterile
F1: 18 I (9 IR + 9 IB): STERILE
You can use autotriploid with orchid to improve
size Chromosome (using colchicine)

If propagated through seeds, never use autoploidy Doubling of F1: 18 II (9IIR + 9IIB): FERTILE

Nicotiana tabacum L. 2n = 48 Phenotype: Head of the radish and root of the

P1 and P2: N. sylvestris x N. tomentosiformis cabbage

(SS; 2n = 24) (TT; 2n = 24) ORIGIN AND RELATIONSHIPS OF

Chromosome 12 IIS 12 IIT DIFFERENT POLYPLODS
Configuration

Gametes: 12 IS 12 IT

F1: 24 I (12 IS + 12 IT): STERILE

Chromosome

Doubling of F1: 24 II (12IIS + 12IIT): FERTILE

= Nicotiana tobacum L. (2n=48)

Raphanobrassica is an experimental POLYPLOIDY is extremely rare among

allotetraploid produced by G.D. sexually reproducing animals
 PHYSICAL CHARACTERISTICS OF ▓ 10 ab + 10 ac + 10 ad + 10 bc +10 bd +
10 cd + 3aa + 3bb + 3cc + 3dd
POLYPLOIDS
GENOTYPE CHROMOSOME
AUTOPOLYPLOID SEGREGATION
Gametic frequency Phenotypic
Increased individual cell size Ratio
Slower growth rate and later maturity AAa 1AA:2Aa:2A:1a 17A:1a
than diploids Aaa 2Aa:1aa:1A:2a 2A:1a
Thicker leaves, larger and fewer flowers, AAAa 1AA:1Aa All A
larger fruits than diploids AAaa 1AA:4Aa:1aa 35A:1a
Aaaa 1Aa:1aa 3A:1a
Reduced fertility in varying degrees
Existence of an optimum range of
polyploidy beyond which growth may
be depressed with increasing GENOTYPE CHROMATID SEGREGATION
chromosome number Gametic frequency Phenotypic
Ratio
ALLOPOLYPLOID AAa 5AA:6Aa;1aa:8A;4a 67A:1a
Aaa 1AA:6Aa:5aa:4A:8a 46A:26a
Fertile AAAa 13AA:10Aa:1aa 575A:1a
Possess many of the physical AAaa 2AA:5Aa:2aa 77A;4a
characteristics of the autopolyploids Aaaa 1AA:10Aa:13aa 407A:169a
Responsible for the formation of new
species
Wheat; tobacco; Raphanobrassica

Chromosome Segregation in
Autotetraploids

4 homologous chromosomes

Types of Segregation

RANDOM CHROMOSOME TYPE

▓Genes are close to the centromere
▓Example : AAAA x AAAa
▓To find gametes, assign alleles in a
figure (box cross)
RANDOM CHROMATID TYPE
▓ Genes are far from the centromere
▓ To find the gamete use the gametic
series
ANEUPLOIDY
ANEUPLOIDY occurs when one or more
chromosomes of a normal set are lacking or are
present in excess. The nuclei, therefore will
contain chromosomes whose numbers are not
multiples of the genome.
 Addition or subtraction of one or more
chromosomes
 ADDITION
Structural Aberrations can be…

1. Trisomic
2. Double Trisomic HOMOZYGOUS
3. Tetrasomic ▓ Two chromosomes in the
homologous pair are affected
HETEROZYGOUS
SUBTRACTION ▓ Only one of the chromosomes in the
homologous pair is affected
1. Monosomic ▓ Structural hybrids
2. Double monosomic
Normal: A B C D E F G H
3. Nullisomic
a b c d e f g h

Homozygous A B C D EF EF G H

Duplication: a b c d ef ef g h

Chromosome pairing is normal at

pachytene

Homozygous A B C D G H
\
Deletion a b c d g h

Heterozygous A B C D EF EF G H
\
Duplication a b c d e f g h
Types of Structural Aberrations \

DELETION – missing chromosome Heterozygous A B C D G H

segment
Deletion a b c d e f g h
\\
DUPLICATION – repeated
chromosome segment
TRANSLOCATION
TRANSLOCATION – exchange of
chromosome segments involving non- It occurs when single breaks into non
homologous chromosomes homologous chromosomes produce an
exchange of chromosome section
INVERSION – chromosome segment is
between them
inserted in different order
Heterozygous for reciprocal
translocation = ring/chain *results of IV*
 Types of Inversion Ac – Ds SYSTEM

Ac encodes transposase
PARACENTRIC – the centromere is not Ds suppressor of color formation
involved in the inverted segment ▓ Can’t move without Ac
PERICENTRIC – the centromere is ▓ Can’t transpose to location of
included in the inverted segment gene C (color) anthocyanin
▓ Ac-Ds stationary (purple kernel)
▓ Ac – Ds transported into C (white
Homozygous A B F E D C G H kernel)
Pericentric a b f e d c g h ▓ Spotted kernels – reversions of
mutation

Heterozygous A B C D E F G H Gene Mutation

Pericentric a b f e d c g h
Change in a single nucleotide or few
adjacent nucleotides
HETEROZYGOUS – paracentric

Bridge and acentric fragment

BASE PAIR SUBSTITUTION
▓ Transition Pu-Pu ; Py-Py
▓ Trans version: Pu – Py
AMINO ACID SUBSTITUTION
Adjacent I - sterile ▓ Same sense
Adjacent II - sterile ▓ Missense
Alternate or Zigzag – fertile gametes; no ▓ Nonsense
deletion or duplication FRAMESHIFT MUTATION
MUTATOR GENES ▓ Insertion or deletion of a base
▓ Change in the reading gene
E.coli treffers mutator gene
Change in A-T to C-G during
replication

TRANSPOSONS/ JUMPING GENES

Can move and insert itself into the gene

Loss of gene function
BARBARA Mc Clintock (Nobel Prize
1983)
35 Years after her publication
Reversible mutants in corn