Mutations

What Are Mutations?

Changes in the nucleotide sequence of DNA May occur in somatic cells (arent passed to offspring) May occur in gametes (eggs & sperm) and be passed to offspring

Are Mutations Helpful or Harmful?

Mutations happen regularly Almost all mutations are neutral Chemicals & UV radiation cause mutations Many mutations are repaired by enzymes

Are Mutations Helpful or Harmful? Some type of skin cancers and leukemia result from somatic mutations Some mutations may improve an organisms survival (beneficial)

Mutations
Causes:
Radiation e.g. UV Chemical e.g. Cigarette Smoke Spontaneous

Types:
In body cells, can lead to cancer. In sex cells, can lead to new traits in offspring.

Types of Mutations

Types of Mutation
Mutations can be classified according to their effects on the protein (or mRNA) produced by the gene that is mutated. 1. Silent mutations (synonymous mutations). Since the genetic code is degenerate, several codons produce the same amino acid. Especially, third base changes often have no effect on the amino acid sequence of the protein. These mutations affect the DNA but not the protein. Therefore they have no effect on the organisms phenotype. 2. Missense mutations. Missense mutations substitute one amino acid for another. Some missense mutations have very large effects, while others have minimal or no effect. It depends on where the mutation occurs in the proteins structure, and how big a change in the type of amino acid it is.

Example: HbS, sickle cell hemoglobin, is a change in the beta-globin gene, where a GAG codon is converted to GUG. GAG codes for glutamic acid, which is a hydrophilic amino acid that carries a -1 charge, and GUG codes for valine, a hydrophobic amino acid.

3. Nonsense mutations convert an amino acid into a stop codon. The effect is to shorten the resulting protein. Sometimes this has only a little effect, as the ends of proteins are often relatively unimportant to function. However, often nonsense mutations result in completely non-functional proteins.

an example: Hb- McKees Rock. Normal beta-globin is 146 amino acids long. In this mutation, codon 145 UAU (codes for tyrosine) is mutated to UAA (stop). The final protein is thus 143 amino acids long. The clinical effect is to cause overproduction of red blood cells, resulting in thick blood subject to abnormal clotting and bleeding.

4. Sense mutations are the opposite of nonsense mutations. Here, a stop codon is converted into an amino acid codon. Since DNA outside of protein-coding regions contains an average of 3 stop codons per 64, the translation process usually stops after producing a slightly longer protein.

Example: Hb- Constant Spring. alpha-globin is normally 141 amino acids long. In this mutation, the stop codon UAA is converted to CAA (glutamine). The resulting protein gains 31 additional amino acids before it reaches the next stop codon. This results in thalassemia, a severe form of anemia.

Chromosome Mutations
May Involve: Changing the structure of a chromosome The loss or gain of part of a chromosome

Chromosome Mutations
Five types exist: Deletion Inversion Translocation Nondisjunction Duplication

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 arent homologous Part of one chromosome is transferred to another chromosomes

Translocation

 Failure of chromosomes to separate during meiosis Causes gamete to have too many or too few chromosomes Disorders:
Down Syndrome three 21st chromosomes Turner Syndrome single X chromosome Klinefelters Syndrome XXY chromosomes

Nondisjunction

Chromosome Mutation Animation

Gene Mutations
Change in the nucleotide sequence of a gene May only involve a single nucleotide May be due to copying errors, chemicals, viruses, etc.

Types of Gene Mutations

Include: Point Mutations Substitutions Insertions Deletions Frameshift

Point Mutation
Change of a single nucleotide Includes the deletion, insertion, or substitution of ONE nucleotide in a gene

Point Mutation
Sickle Cell disease is the result of one nucleotide substitution Occurs in the hemoglobin gene

Frameshift Mutation
Inserting or deleting one or more nucleotides Changes the reading frame like changing a sentence Proteins built incorrectly

Frameshift Mutation
Original: The fat cat ate the wee rat. Frame Shift (a added): The fat caa tet hew eer at.

Amino Acid Sequence Changed

Gene Mutation Animation

Extra Fingers

Female Downs Syndrome

2n = 47 29

Turners Syndrome

2n = 45 30