2D

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Mutations

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Changes to the nucleic acid(DNA and RNA) sequence. Altered gene sequence can change amino acid sequence which can affect phenotype. Can have harmful, harmless or useful mutations. Mutations are the primary force in evolution

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Somatic Mutations

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Mutations that are not inherited since they can occur in all other cells except gametes. This mutation occurs in the progenitor cell and all other daughter cells will express this mutation. Ex. cancer tumors.

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Germline mutations

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Mutations that can be inherited because they occur in the gametes. Ex. Sex-influenced traits such as autosomal dominant trait that is dependent on sex.

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Base substitution

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Single nucleotide change as a result of point mutation.

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Insertion

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One or more base pairs added in the sequence during DNA replication usually resulting in a frameshift mutation.

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Deletion

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One or more base pairs skipped during DNA replication usually resulting in a frameshift mutation.

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Nonsense mutation

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Sense codon is turned into a stop codon

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Silent mutation (Synonymous)

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Codon change does not change the amino acid due to degeneracy of the genetic code.

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Missence mutation (nonsynonymous)

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Codon change, changes the amino acid sequence

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Frameshift mutation

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Insertion or deletion of a number of nucleotides can cause an altering of the reading frame

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Which types of mutations would have the most effect on the function f the polypeptide?

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Frameshift and nonsense mutations

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Chromosomal deletion

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Loss of genes

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Duplication/amplification

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Increasing dosage of genes

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Inversion

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Reversing orientation of a segment of the chromosome

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Insertion

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Genes of one chromosome if transferred to another chromosome

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Translocation

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Interchange of genetic information (parts) from non-homologous chromosomes.

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Spontaneous lesions

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Depurination and deamination of bases

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Strand slippage

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Is a type of replication error that causes an increase and decrease in the number of repeated sequences (insertions and deletions)

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Huntington's disease

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Greater than 35 repeated sequences of CAG codon in the HTT genes increases the risk of this disease

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Microsatellite DNA

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Repeated sequences of 2-6 base pairs. Amount of repeats is highly polymorphic (which is caused by replication slippage)

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Mutagens

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Induce mutations by replacing a base, alter a base so it mispairs with another base or damage a base where it can no longer pair with any base

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Base Analogs

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Mimic bases and incorporates into DNA (can cause mispairing during DNA replication)

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Transposable elements(TE)

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Can excise and insert into various locations in the genome. Most TE's contain a gene encoding transposase that recognize flanking inverted repeats and cause excision and insertion of TE into another genomic location

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Mutagenesis

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Occurs when transposons insert into a gene and disrupt gene function

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Allele

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One of different forms of a gene (DNA sequence variation) which can cause different phenotypes.

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Wild-type allele

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Normal form of the gene found in nature or the standard laboratory strain of model organism

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Loss-of-function alleles

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Mutations that reduce/eliminate gene function/expression

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Gian-of-function alleles

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Mutations that enhance gene function/expression

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Cell cycle

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an ordered set of processes by which one cell grows and divids into two daughter cells.

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G1, G2 phase

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Synthesis of proteins, RNA, metabolites, other than DNA.

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S phase

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The phase where DNA is replicated

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M phase (mitosis)

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Nuclear division.

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Cytokinesis

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Cell division

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G0

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Resting phase or quiescence. Most adult human cells are in this phase either permanently (muscle or nerve cells) or semi-permanently (liver cells reenter G1 during injury)

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DNA checkpoint G1/S

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Is DNA ok for replication?

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DNA checkpoint G2/M

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Is DNA fully replicated before mitosis?

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Progression past the checkpoints depend on?

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The activation of cyclin-dependant kinase(CDK) bound to its regulatory cyclin subunit in each phase of the cell cycle. Cyclins are expressed in specific phases of the cell cycle which determines when a CDK is active.