Molecular Biology I: Mutations - Vocabulary Flashcards

Vocabulary flashcards covering core terms, definitions, and concepts on genetic mutations, mutation rates, germline vs soma, and mutation types from the Molecular Biology I lecture.

Mutation (Campbell et al., 2005)

Changes in the genetic material of a cell (or virus).

Mutation (Russell, 2006)

Any heritable alteration in the genetic material.

Process of Mutation (Griffiths et al.)

The process whereby genes change from one allelic form to another.

Gene (Gerstein et al., 2007 Modernish Definition)

A genomic sequence (DNA or RNA) directly encoding functional product molecules, either RNA or protein.

Gene (Gerstein et al., 2007 More Modern Definition)

A union of genomic sequences encoding a coherent set of potentially overlapping functional products.

Spontaneous Mutation

Mutations arising naturally from DNA replication or repair errors, metabolic processes such as Reactive Oxygen Species (ROS), mutagens in food, or ionizing radiation.

Spontaneous Human Germ Line Mutation Rate

Approximately $3$ new mutations per $10^8$ base pairs per generation, leading to about $200$ new mutations in each human child.

Net Mutation

The net rate of mutation calculated as DNA damage minus DNA repair ($\text{Net Mutation} = \text{DNA Damage} - \text{DNA Repair}$).

Xeroderma Pigmentosum

A condition where patients are unable to repair thymine-thymine ($\text{T-T}$) dimers caused by bright sunlight, turning all dimers into mutations and rendering patients highly susceptible to sun-induced skin cancers.

Germ-line Cells

Cells that pass genetic information to the next generation, characterized by a low mutation rate of about $200$ per generation.

Somatic Cells

Non-reproductive body cells that represent a genetic dead-end and are disposable to natural selection, exhibiting a mutation rate $10\times$, $100\times$, or $1000\times$ higher than germ-line cells.

Exons

The protein or functional RNA coding regions of a gene that make up only $1\text{--}2\%$ of the human genome.

Frameshift Mutation

An insertion or deletion (INDEL) of $1$, $2$, $4$, $5$, $7$, or $8$ base pairs within a protein-coding sequence that shifts the Reading frame.

Point Mutations

Single base pair changes in DNA that are categorized into silent, nonsense, and missense (conservative or non-conservative) mutations.

Silent Mutation

A point mutation that changes a codon sequence without altering the encoded amino acid.

Nonsense Mutation

A point mutation that changes an amino acid codon into a premature stop codon.

Missense Mutation

A point mutation that changes a codon to code for a different amino acid, categorized as conservative (similar amino acid properties) or non-conservative (different amino acid properties).

Recessive Mutation

A mutation that only affects phenotype when present in a homozygous state ($b/b$).

Dominant Mutation

A mutation that affects phenotype when present in a heterozygous state ($B/b$).

Reich's Law

A principle formulated by Justin Reich (2020) stating: 'People who do stuff do more stuff, and people who do stuff do better than people who don't do stuff.'