mutations. what is a mutation? a mutation is a permanent change in the dna sequence of a gene....

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Mutations

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Page 1: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Mutations

Page 2: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

What is a mutation?

A mutation is a permanent change in the DNA sequence of a gene.

Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the gene.

Page 3: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

How do mutations happen?

Like words in a sentence, the DNA sequence of each gene determines the amino acid sequence for the protein it encodes.

The DNA sequence is interpreted in groups of three nucleotide bases, called codons.

Each codon specifies a single amino acid in a protein.

Page 4: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Mutate a sentence

We can think about the DNA sequence of a gene as a sentence made up entirely of three-letter words. In the sequence, each three-letter word is a codon, specifying a single amino acid in a protein. Have a look at this sentence:

Thesunwashotbuttheoldmandidnotgethishat.

Page 5: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Thesunwashotbuttheoldmandidnotgethishat.

If you were to split this sentence into

individual three-letter words, you would probably read it like this:

The sun was hot but the old man did not get his hat.

Page 6: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

This sentence represents a gene. Each letter corresponds to a nucleotide

base, and each word represents a codon. What if you shifted the three-letter

"reading frame?" You would end up with:T hes unw ash otb utt heo ldm and

idn otg eth ish at.OrTh esu nwa sho tbu tth eol dma ndi

dno tge thi sha t.

Page 7: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Now, going back to the original sentence:Thesunwashotbuttheoldmandidnotge

thishat. See how you can mutate the reading

frame of this sentence by inserting or deleting letters within the sentence.

Page 8: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

What types of mutations can occur in DNA sentences?

Point mutations are single nucleotide base changes in a gene's DNA sequence. This type of mutation can change the gene's protein product in the following ways:

Page 9: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Missense mutations are point mutations that result in a single amino acid change within the protein.

Nonsense mutations are point mutations that create a premature "translation stop signal" (or "stop" codon), causing the protein to be shortened.

Silent mutations are point mutations that do not cause amino acid changes within the protein.

Page 10: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Page 11: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Page 12: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Insertion mutations and deletion mutations add or remove one or more DNA bases. Insertion and deletion mutations cause frameshift mutations, which change the grouping of nucleotide bases into codons. This results in a shift of "reading frame" during protein translation.

Page 13: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Page 14: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Page 15: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Gene mutation vs. Chromosomal mutation

Gene mutation: Changes or shifts in one or more nucleotides. (Point mutations or frameshift mutations)

Chromosomal mutation: Changes in the number or structure of chromosomes.

Page 16: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Significance of mutations

1. Most mutations have no effect on gene expression.

2. Some will cause changes in protein production and will disrupt normal biological activities.

3. Some mutations produce genetic variety in a species and be highly beneficial.

Page 17: Mutations. What is a mutation? A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino

Mutations. What is a mutation? Any change in the DNA base sequence

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PR 7 Evolucija genomov (Genome evolution) - Študentski.netstudentski.net/get/ulj_fkt_bi2_gbi_sno_evolucija_genomov_01.pdf · A mutation is a change in a DNA sequence Mutations can

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