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Mutations and the phenotype • Types of mutations • Agents of mutations • Mutations: Molecular level • Mutations: protein level • Classes of Protein mutations

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Mutations and the phenotype

• Types of mutations• Agents of mutations• Mutations:

Molecular level• Mutations: protein

level• Classes of Protein

mutations

Gene mutation

• somatic • germinal • study process of mutation • dissect a biological process

Page 3: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Mutagens

• Can be physical or chemical agents

• Use Ames Test for mutagens

• Mutagens are potential carcinogens

Page 4: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Agents of mutation

• Spontaneous• Physical agents• Chemical agents

Page 5: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Mutagens: UV light and X-rays Radiation

Page 6: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Chemical

• oxygen, ozone, superoxide

• Nitrous acid

Page 7: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Mutations: Molecular level

• Transitions • Transversions

Page 8: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

DNA changes

Page 9: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Mutations: Protein Level• 4 groups of amino acids • silent mutation • Missense mutation &

examples • neutral • non-functional • nonsense mutation • anti-nonsense • Frameshift mutation

Page 10: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Inborn errors of metabolism

Page 11: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Classes of Protein mutations

• Enzymes• Amino Acid

metabolism• Carbohydrate

metabolism• Lipid metabolism• Nucleic acid

metabolism• Receptor proteins• Transport proteins

Page 12: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Amino Acid metabolism

Page 13: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Amino Acid metabolismPhenlyalanine

Page 14: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Carbohydrate metabolism

Page 15: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Glycogen storage

Page 16: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Nucleic acid metabolism

SCID/ADA deficiency Both B/T lymphocytes affected elevated dATP 50-100x inhibit synthesis of other deoxynucleotides

Page 17: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Lesch-Nyhan syndrome

• Lack of HGPRT • x- linked • Increase de novo

purine biosynthesis • overproduction of

urate

Page 18: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Problems

• Urate soluble 7 mg/dLat 37C

• cooler extremities, crstallizes

• synovial fluid • Gout

Page 19: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Lipid metabolism

Page 20: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Receptor proteins

• Heterozygote plasma levels of LDL: 320-500 mg/dL, increased residence time in blood

• Homozygous plasma levels of LDL: 600-1000 mg/dL

Page 21: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Transport proteins

Page 22: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Sickle Cell

Page 23: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Alpha chain

Page 24: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

Alpha chain

Page 25: Types of mutations Mutations: Mutations: protein level ...wou.edu/~guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations ... Mutations:

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