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Mutations

Mutations are changes in the nucleotide sequence of DNA that can occur in somatic or gamete cells, with potential effects on an organism's survival. They can be classified into point mutations, which include silent, missense, and nonsense mutations, as well as chromosomal abnormalities like deletions, duplications, and translocations. The document outlines the mechanisms and consequences of these mutations, including their causes and effects on protein function.

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9 views19 pages

Mutations

Mutations are changes in the nucleotide sequence of DNA that can occur in somatic or gamete cells, with potential effects on an organism's survival. They can be classified into point mutations, which include silent, missense, and nonsense mutations, as well as chromosomal abnormalities like deletions, duplications, and translocations. The document outlines the mechanisms and consequences of these mutations, including their causes and effects on protein function.

Uploaded by

shahidmoh2005
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Mutations

Dr. Munzir M.E. Ahmed


Associate Professor
Biochemistry Department
What Are Mutations?
• Changes in the nucleotide sequence of DNA
• May occur in somatic cells (aren’t passed to
offspring)
• May occur in gametes (eggs & sperm) and be
passed to offspring.

Are Mutations Helpful or Harmful?


• Many mutations are repaired by enzymes.
• Some mutations may improve an organism’s survival.
• Chemicals & UV radiation cause mutations
Types of Mutation
Point Mutations
 Base Pair Substitutions
Silent.
Missense.
Nonsense.
 Base Pair Insertions and deletions
 Frame shift Mutations
Chromosome Abnormalities (structure)
Deletions
Translocations
Duplications
Inversions
Changes in chromosome number
Nondisjunction
Point Mutations
• Change in the nucleotide sequence of a gene
• May only involve a single nucleotide
• May be due to copying errors, chemicals, viruses, etc.
• Change of a single nucleotide
Base substitution
is of two types:

Transition:
Purine is replaced with a purine

Pyrimidine is replaced with a pyrimidine


1) Silent mutation
No effect on protein
alters a codon but due to degeneracy of the
codon, same amino acid is specified.
TCA TCG
AGT AGC

UCA UCG

Ser Ser
2) Missense mutation:
a different amino acid.
different protein. a base is substituted that alters a
codon in the mRNA resulting in a different amino acid
in the protein product
TCA TTA
AGT AAT

UCA UUA

Ser Leu
Missense mutation:
• Ex.
• One Amino Acid Substituted for Another
• Sickle Cell Anemia
• Valine is replaced with Glutamic
•
3) Nonsense mutation:
Stop codon and a nonfunctional protein
changes a sense codon into a nonsense codon.
Nonsense mutation early in the mRNA sequence
produces a greatly shortened & usually nonfunctional
protein. TCA TGA
AGT ACT

UCA UGA Stop codon

Ser
Frame Shift Mutation
 Inserting or deleting one or more nucleotides.
 Changes the “reading frame” like changing a sentence.
 Proteins built incorrectly
Chromosome Mutations
• May Involve:
– Changing the structure
of a chromosome
– The loss or gain of part
of a chromosome
Chromosome Mutations
A) Changes in chromosome structure
Five types exist:
Deletion
Inversion
Translocation
Duplication

B) Changes in chromosome number


Nondisjunction
Deletion
• Due to breakage
• A piece of a chromosome is lost
Inversion
• Chromosome segment breaks off
• Segment flips around backwards
• Segment reattaches
Duplication
Occurs when a gene sequence is repeated •
Translocation
• Involves two chromosomes that aren’t
homologous
• Part of one chromosome is transferred to
another chromosomes
• Nondisjunction
• Failure of chromosomes to separate during
meiosis
• Causes gamete to have too many or too few
chromosomes

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