Course review

D1.3 Mutation and gene editing

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Learning objective

D1.3.1—Gene mutations

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• Gene mutations are changes in the base sequence of DNA • Main types are substitution, insertion, deletion, and duplication

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Learning objective

D1.3.2—Base substitution consequences

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• Base substitutions can create SNPs and change codons • Degeneracy can make substitutions silent, missense, or nonsense

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Learning objective

D1.3.3—Insertion and deletion consequences

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• Insertions or deletions not in multiples of three cause frameshifts • Frameshifts alter downstream codons and often disrupt protein function

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Learning objective

D1.3.4—Causes of mutation

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• Mutations can arise from replication errors, repair errors, or chromosome damage • Mutagens include chemicals, ionizing radiation, and ultraviolet radiation

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Learning objective

D1.3.5—Randomness in mutation

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• Mutations occur randomly with respect to organism need or advantage • Mutation rate varies with DNA sequence, gene expression, repair, and mutagen exposure

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D1.3.6—Consequences in germ vs. somatic cells

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• Germ-line mutations can be inherited by offspring • Somatic mutations affect only descendant body cells and can contribute to cancer

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Learning objective

D1.3.7—Mutation as source of variation

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• Mutation is the original source of new alleles and genetic variation • Many mutations are neutral or harmful, but variation supplies material for natural selection

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Learning objective

D1.3.8 (HL)—Gene knockout

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• Gene knockout makes a specific gene non-functional to investigate phenotype • Model organisms such as mice, Drosophila, zebrafish, and Arabidopsis support KO libraries

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Learning objective

D1.3.9 (HL)—CRISPR-Cas9 gene editing

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• Guide RNA directs Cas9 to a complementary DNA target sequence • Cas9 cutting enables deletion, replacement, insertion, or gene disruption

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Learning objective

D1.3.10 (HL)—Conserved sequences

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• Conserved sequences remain similar across species or long evolutionary times • Conservation suggests essential function, lower mutation rate, or strong purifying selection

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