Fundamental Genetics

Lecture 6

Chromosome Mutations
Also called chromosome aberrations

Chromosome
Mutations

Change in number of chromosomes, deletion

or duplication of genes or segments of
chromosome, or rearrangement of genetic
material
Inherited (can be passed from one generation
to another)
Results to new phenotypic variation or maybe
lethal

John Donnie A. Ramos, Ph.D.

Dept. of Biological Sciences

College of Science
University of Santo Tomas

Variation in Chromosome Number

Nondisjunction
Failure of homologous chromosomes to segregate during anaphase of
meiosis
Primary nondisjunction failure of a homolog to segregation during
anaphase I
Secondary nondisjunction failure of a homolog to segregate during
anaphase II
Results to aneuploidy

Monosomy

Cri-du-Chat Syndrome

Loss of one chromosome (2n-1)

Caused by either primary or secondary
nondisjunction
Human Example: Turner syndrome (2n=45, 44+X)
Monosomy involving autosomes in humans is lethal
Drosophila Example: Haplo IV (monosomic at
chromosome no. 4)
Slow development, reduced body size, impaired
viability
Common in plants (maize, tobacco, primrose) less
viable compare normal plants

Cri-du-Chat syndrome (cry of cat)

Deletion in part of chromosome 5 (46, 5p_)
Gastrointestinal and cardiac complications
Mentally retarded
Abnormal development of glottis and larynx (cry like a cat)
Incidence: 1 in 50,000 births
Different cases have different degrees of truncations

Trisomy

Trisomy

Gain of chromosome (2n+1)

Caused by either primary or secondary nondisjunction
Affected are viable in humans, animals and plants
Example: Trisomy 21 (Down Syndrome)
Trisomy of chromosome 21 (2n=47, 21+)
1 in every 800 live births

Patau Syndrome
(Tisomy 13)
2n= 47, 13+

Flat faces, round heads, protruding and furrowed tongues, short and
broad fingers
Physical, psychomotor, and mental development is retarded
Life expectancy: 50 yrs old
95 % of cases are nondisjunction in ovum (related to age of female)

Edwards Syndrome
(Trisomy 18)
2n = 47, 18+

Polyploids

Autopolyploids

Presence of more than two sets of chromosomes

Triploid (AAA), tetraploid (AAAA), pentaploid (AAAAA) if A

represents haploid set
Arise as a result of: (for triploids)

Infrequent in many animals species but common in

amphibians, lizards and fishes
Very common in plant species

Failure of all chromosomes to segragate

Two sperm fertilizing an egg
Experimentally induced (diploid x tetraploid)

Autotetraploids are more likely to occur in nature than

autotriploids (because of genetically unbalanced gametes)
Tetraploids result when chromosomes replicated but sister
chromatids failed to divide
Examples: potatoes, seedless watermelon, commercial bananas,
apples, peanuts, coffee, strawberry (octaploid)

Same species

Allopolyploids

Different species
(hybridization)

Variation in Chromosome Number

Hybridization of two closely

related species
Allotretraploid 4 sets of
chromosomes (Two sets from
species 1 and two sets from
species 2)

Structural changes in a particular chromosome

Amphidiploid the resulting

hybrid from2 species

Caused by chromosomal breaks (mutations)

spontaneous or artificial (due to mutagenic
agents)

Ex. American cotton (2n=26);

Raphanus brassica (2n=18) =
Raphanus sativus (radish) +
Brassica olaracea (cabbage)

Deletions, duplications or rearrangements of

genes

Heritable
Can change the phenotype of an organism

Triticale = rye (high lysine) and

wheat (high protein)

Deletions
Lost of a gene or a part
of gene

Duplications
A gene locus or apiece of chromosome is present more than once
in a genome
Result of unequal crossing-over during meiosis

Either terminal or
intercalary deletions
When a chromosome
has intercalary deletion,
its homolog will
undergo compensation
loop during pairing of
homologous
chromosomes.
Example: Cri-du-Chat
Syndrome

Duplications

Can form compensation loop in succeeding homologous pairing

Causes gene redundancy and amplification (ex. Genes coding for
rRNA E. coli has 5-10 copies but oocyte has 400 copies)
Plays a role in evolution of genes (ex. Trypsin and chymotrypsin
genes; myoglobin and hemoglobin genes; myosin and paramyosin
genes)

Inversions

Can cause phenotypic variation

Occurs when a region of chromosome is turned 180

Ex. Bar eye mutation in Drosophila (slit-like eyes)

Chromosome part is not lost but rearrangement of genes occur

Identified in 1920s by Alfred Sturtevant and Thomas

Morgan

Two breaks occur

Duplication in region 16A of X chromosome

Normal Wild-type

Heterozygous

Types:
Homozygous
recessive
Double bar

Paracentric Inversion Heterozygotes

Paracentric Inversion centromers is not a part of the

inverted sequence
Pericentric Inversion centromere is part of the inverted
sequence

Pericentric Inversion Heterozygotes

Only 1 homolog is inverted

Forms inversion loop
during meiosis
If no crossing-over: results
to 2 normal sequence and
2 inverted sequences
If crossing occurs: results
to 4 different sequence
combinations
Acentric chromosome may
be lost during anaphase

Translocations
Transfer of chromosome segment to another location (different
chromosome)
Reciprocal translocation exchange of segments between two
non-homologous chromosomes
Results to partial monosomy or trisomy

Translocations in Humans
Familial Down
Syndrome
14/21 D/G
Robertsonian
translocation (transfer
of large segment of
chrom. 21 to chrom.
14)

Fragile Sites in Humans

Regions in chromosomes susceptible to DNA breakage

Result of short sequence duplications
Examples:
Fragile X Syndrome (Martin-Bell Syndrome)

Presence of Folate-sensitive site on X chromosome

Most common form of mental retardation
Affects 1 in 1250 males and 1 in 1500 females
A dominant trait (but not fully expressed only 30% and 80% of
females and males with fragile X express the disease, respectively)
Long, narrow faces; enlarge ears; increased testicular size
Caused by FMR-1 gene (trinucleotide repeats- CGG repeats)
Normal persons = 6-54 repeats; carriers =55-200 repeats; fagile X=
more than 200 repeats)
Undergoes Genetic Anticipation repeats increase in succeeding
generations

Fragile Sites and Cancer

Lung, stomach, esophagus, colon cancers
Caused by FHIT gene (Fragile histidine triad) located in chromosome 3