Types of mutations Mutations: Mutations: protein level ...guralnl/441Mutations and the...

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

Transcript of Types of mutations Mutations: Mutations: protein level ...guralnl/441Mutations and the...

Page 1: Types of mutations Mutations: Mutations: protein level ...guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations • Agents of mutations

Mutations and the phenotype

• Types of mutations• Agents of mutations• Mutations:

Molecular level• Mutations: protein

level• Classes of Protein

mutations

Page 2: Types of mutations Mutations: Mutations: protein level ...guralnl/441Mutations and the phenotype.pdf · Mutations and the phenotype • Types of mutations • Agents of mutations

Gene mutation

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

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Mutagens

• Can be physical or chemical agents

• Use Ames Test for mutagens

• Mutagens are potential carcinogens

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Agents of mutation

• Spontaneous• Physical agents• Chemical agents

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Mutagens: UV light and X-rays Radiation

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Chemical

• oxygen, ozone, superoxide

• Nitrous acid

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Mutations: Molecular level

• Transitions • Transversions

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DNA changes

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

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

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Inborn errors of metabolism

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Classes of Protein mutations

• Enzymes• Amino Acid

metabolism• Carbohydrate

metabolism• Lipid metabolism• Nucleic acid

metabolism• Receptor proteins• Transport proteins

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Amino Acid metabolism

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Amino Acid metabolismPhenlyalanine

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Carbohydrate metabolism

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Glycogen storage

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Nucleic acid metabolism

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

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Lesch-Nyhan syndrome

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

purine biosynthesis • overproduction of

urate

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Problems

• Urate soluble 7 mg/dLat 37C

• cooler extremities, crstallizes

• synovial fluid • Gout

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Lipid metabolism

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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

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Transport proteins

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Sickle Cell

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Alpha chain

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Alpha chain

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Cystic Fibrosis