Gene Expression Mutation - polymorphism

How are genes expressed ?

DNA
Transcription
Cap
Poly(A)

Pre-mRNA

Splicing Lariat intron

Cap Poly(A)

mRNA

Degradation

Nucleus

mRNA transport

Translation

Cytoplasm

Ribosome

PROTEIN
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MUTATION
Mutation is a change in the nucleotide sequence of genome, caused by a replication error or by a mutagen.
Mutagen a chemical or physical agent that can cause a mutation in a DNA molecule

The cause of mutations

1. Spontaneous error in replication that evade proofreading function of the DNA polymerases that synthesize new polynucleotides mismatches

1. Error in replication

2. Effect of mutagen

Mutation :
In-frame mutation maintain reading frame (codon is intact) Out of frame/frameshift mutation disrupt reading frame 1. Point mutation 2. Deletion 3. Insertion 4. Duplication
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Point mutation common (single site mutation) : replace one nucleotide with another Divided into two catagories:
1. Transitions : are purine-to purine or pyrimidine-topyrimidine changes : AG, GA, CT, or TC. 2. Transversions : are purine-to-pyrimidine or pyrimidine-to-purine changes: AC, AT, GC, GT, CA, CG, TA or TG
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Point mutation: Single nucleotide change - deletion - insertion - missense - nonsense (create a stop codon) - silent (no amino acid alteration)
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Point mutation :
Missense

Silent

Missense

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Polymorphism:
Different nucleotide sequence that occurs in the population as a whole

Deletion Insertion Duplication Missense Silent

Patient (+) Control (-)

Mutation

Patient (+) Control (+)

Polymorphism

Most polymorphism occurs in intronic sequence

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