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CHAPTER 6

Chromosome
Mutations:
Variation in Number and
Arrangement
-

Chromosome mutations or
Chromosome aberrations can
be caused by
1. Environmental factors:
exposure to chemicals or
radiation
2. NONDISJUNTION
of
chromosomes that occurs
during the anaphase (I or
II), most commonly I
during meiosis DOES
NOT
PROPERLY
SEPARATE (No spindle
fibers)
Plants can often tolerate the
abnormal genetic content but
can
manifest
unique
phenotypes
With animals, the aberrations
can cause lethality or
abnormal phenotype
Rearrangement of genetic
information can affect the
viability of the gametes and
the
phenotypes
of
organisms
Chromosomes have fragile
sites which can break and
lead to having an abnormal
phenotype

Chromosomal Aberrations
1. Variations in Chromosome
Number
2. Non-Disjunction
3. Monosomy
4. Trisonomy
5. Polyploidy
6. Deletions
7. Duplications
8. Inversions

9. Translocations
10. Fragile Sites
chromosomes

in

human

Mutations
and
Chromosomal
Aberrations
- Mutations can affect an
organisms phenotype (traits
are passed from parent to
offspring following Mendelian
principles)
- Diploid species: 2 Haploid
sets
- Chromosomal
Aberrations/Mutations/
Modifications:
Deletion,
Duplication,
Inversion,
Translocation
- Chromosomal aberrations can
be passed to the offsprings
Variation
in
Chromosome
Number: Terminology and Origin
Aneuploidy
Monosomy (2n-1)
Disomy (2n)
Trisomy (2n+1)
Tetrasomy, Pentasomy, etc.
(2n+2, 2n+3)
Euploidy
Diploidy (2n)
Polyploidy (3n,4n,5n,6n)
Triploidy (3n)
Tetraploidy, pentaploidy
(4n,5n)
Autopolyploidy
- Multiples of the same
genome
- Form
Triploids
or
Tetraploids
Allopolyploidy
(amphidiploidy)
- Form Tetraploids

Variation
in
chromosome
number can be due to the
addition or subtraction of one
or more chromosomes or the
chromosome sets
ANEUPLOIDY
An organism gains or loses
one or more chromosomes
Ex:
1. Monosomy: Single loss of
chromosome
2. Trisomy: Gain of one
chromosome
- More tolerated in the
PLANT KINGDOM
EUPLOIDY
An organism gains or loses
the complete haploid set (it
may resemble the parent
set or it may be formed
from two different diploid
species)
1. Polyploidy: More than two
sets are present
2. Triploid: Three sets are
present
3. Tetraploid:Four sets are
present

How do chromosomal aberrations


arise?
- NONDISJUCTION
- paired homologs fail to
separate during segregation
during anaphase (meiosis)
- Chromosomsal
aberrations
are of random error
Monosomy and Trisomy Result in
a Variety of Phenotypic Effects
MONOSOMY
- Loss of ONE chromosome
- 2n-1
- In humans: Monosomy of X
chromosome

Ex:
1. Turners Syndrome (45,
X)
2. Klinfelters Synfrom (47,
XXY)
-

Monosomy of autosomes is
not usually tolerated in
humans or in animals
- DROSOPHILA:
Chromosome
IV:
chromosome 4 contains less
than 5% of the genes
- develop more slowly,
reduced body size, impaired
viability
Chromosome I/II
- LETHAL
- Monosomy unmasks the
recessive lethal allele that is
tolerated in heterozygotes
carrying the corresponding
wild-type allele: DEATH IN
ORGANISM
- Single copy of a recesseive
gene due to monosomy
may be insufficient to
provide a life-sustaining
function for the organism:
HAPLOINSUFFICIENCY
Monosomy for PLANTS
1. Maize
2. Tobacco
3. Evening
primrose
(Oenothera)
4. Jimson weed (Datura)
TRISONOMY
- Addition of ONE chromosome
- 2n+1
- In
animals,
chromosome
involved is small
- An addition of a large
autosome to the diploid
complement can have severe

or lethal effects on Humans or


in the Drosophila
PLANTS:
Alteration
in
phenotype but trisomy is
viable
1. Jimson weed (Datura)
Diploid number: 24
2. Rice plant (Oryza sativa)
Haploid number: 12

SYNDROMES:
1. DOWN SYNDROME (21+)
2. EDWARDS
SYNDROME
(18+)
3. PATAUS SYNDROME (13+)
Down Syndrome: Trisomy 21 (47,
21+)
1. Only
human
autosomal
trisomy in which a significant
number of individuals survive
longer than a year past birth
2. Discovered by Langdown
Down
3. Addition of a chromosome
to set 21 (G)
4. Found in 1/800 live birthdays
5. 4000-5000 such births in the
United States
6. 250,000 individuals with Down
Syndrome
7. Not expected to be inherited
but can occasionally run in
families
8. Those affected are similar in
appearance
a. Epicanthic fold in each eye
b. Flat face
c. Round head
d. Short
e. Protruding,
furrowed
tongue
f. Broad
hands
with
characteristic palm and
fingerprint patterns

g. Physical,
Psychomotor
and Mental development
are retarded
h. Poor
muscle
tone
characteristic
(weak
muscles)
Those affected are expected
to live up to 50 years old
Children
are
prone
to
respiratory diseases and
heart malformations
Incidence of leukemia is 20
times higher than normal
individuals
Old
people
with
Down
Syndrome usually die due to
Alzheimers disease
Critical region in chromosome
21: Down Syndrome critical
region (DSCR)
Model: Mouse model
- Three copies of the gene
found in this region are
necessary but not sufficient
for the cognitive deficiencies
characteristic of the syndrome
Down syndrome patients have
a lower risk of getting cancer
because of DSCR1 gene
which encodes the protein
that
SUPPRESSES
VASCULAR ENDOTHELIAL
GROWTH FACOTR (VEGF)

Origin of Down Syndrome


- DUE TO NONDISJUNCTION
OF CHROMSOME 21 IN
MEIOSIS (ANAPHASE)
- 75%
SAYS
THAT
IT
HAPPENS IN ANAPHASE 1
1. 95% of the source of down
syndrome is due to the
ovum of the female
2. THE AGE OF THE MOTHER
CAN BE A REASON FOR

3.
4.
5.
6.

DOWN SYNDROME IN A
CHILD (MATERNAL AGE)
1/1000 age 30
1/100 age 40
1/30 age 45
More than half occur when
women give birth at an age
younger than 35

Relation of Maternal Age with


Down Syndrome
1. Meiosis is initiated in all the
eggs of a female when still
fetus until to the point where
the homologs synapse and
recombination begins
2. Oocyte
development
is
arrested at meiosis I
Primary oocytes have been
formed by BIRTH
3. OVULATION:
Meiosis
is
reinitiated in one egg during
each ovulation cycle and
continues into meiosis II
4. Arrested
until
FERTILIZATION
5. A woman age 30 or 40 years
old produce an ova that are
significantly older and have
been arrested longer than
those they ovulated 10 to 20
years previously
- Amniocentesis and chorionic
villus sampling (CVS) fetal
cells are obtained from the
amniotic fluid or chorion in the
placenta
- Fetal cells are derived directly
from the maternal circulation
noninvasive
prenatal
genetic diagnosis (NIPGD)
Human Aneuploidy
1. Approximately 20% of all
conceptions terminate in
spontaneous abortion

2.

About
30%
of
all
spontaneously
aborted
fetuses demonstrate some
form
of
chromosomal
aberration
-DAVID H. CARR
- Aborted fetuses are trisomic for
one of the chromosome groups
Pataus Syndrome
- 47, 13+
a. Mental retardation
b. Growth failure
c. Low-set, deformed ears
d. Deafness
e. Atrial septal defect
f. Ventricular septal defect
g. Abnormal
polymorpholonuclear
granulocytes
h. Microcephaly
i. Cleft lift and palate
j. Polydactyly
k. Deformed finger nails
l. Kidney cysts
m. Double ureter
n. Umbilical hernia
o. Developmental
urine
abnormalities
p. Crytorchidism
Edwards Syndrome
- 47, 18 +
Polyploidy, in Which More Than
Two
Haploid
Sets
of
Chromosomes are present, is
prevalent in plants
-

Polyploidy: MORE than TWO


multiples
of
haploid
chromosome sets are found
Lizards, Amphibians, Fish,
Plants
ODD
numbers
of
chromosomes
are
not

reliably maintained because


it
will
not
produced
genetically
balanced
gametes
AUTOPOLYPLOIDY
- Addition of one or more extra
sets
of
chromosomes
IDENTICAL to the normal
haploid complement of the
same species
- IDENTICAL TO THE PARENT
SPECIES
- AAA:
Triploids
AAAA:
Tetraploids
- Autotriploids failure of
chromosome to segregate
during meiotic division forms a
diploid gamete
Diploid gamete is fertilized
by a haploid gamete there is
a production of THREE sets of
chromosomes
- Autotetraploids: formed from
balanced gametes (diploids)
- Applying COLCHINIE can
lead to the formation
- Colchine: alkaloid derived
from AUTUMN CROCUS
which interferes with spindle
formation and the replicated
chromosomes
DO
NOT
separate during ANAPHASE
Examples of Plants that are
TETRAPLOID
1. Solanum
2. Winesapp apples
3. Commercial bananas
4. Seedless watermelons
5. Lilum tigrinum
6. Tetraploid alfalfa
7. Coffee
8. Peanuts
9. McIntosh apples
10. Hosta plant

ALLOPOLYPLOIDY
- COMBINATION
OR
HYBRIDIZATION
of
chromosome
SETS
from
difference species
- Hybridize
two
closely
related species
- AA set with BB set
- Hybrid organism may be
sterile because of its inability
to produce viable gametes
- There can also be a formation
of a fertile AABB tetraploid
that can be produced
- ALLOTETRAPLOID:
Equivalent
four
haploid
genomes
derived
from
separate species
- When both species are
known: AMPHIDIPLOID is
used
to
descrive
the
ALLOTETRAPLOID
- Amphidiploid plants: form
balance gametes
- Amphidiploidy in plants:
1. American
cotton:
Gossypium (26 pairs of
chromosomes: 13 large
and 13 small)
2. Wheat: Triticum haploid
genome of 7
3. Rye

haploid
chromosomes of 7
Variation
Occurs
in
the
Composition and Arrangement of
Chromosome
Chromosomal Aberration
1. Delete
2. Add
3. Rearrange/ Invert
4. Translocate

Chromosomes
break
spontaneously: end points are
sticky