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Genetics Final Exam Study Guide (Chapters 11–18)

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  • Types of mutations at the DNA level

    Mutations include point mutations, insertions, deletions, and chromosomal rearrangements, each arising from different DNA damage or replication errors.

  • Why genomes remain stable despite damage

    Multiple DNA repair pathways correct damage, maintaining genome stability despite constant sources of DNA lesions.

  • Difference between single-strand and double-strand DNA damage

    Single-strand damage affects one DNA strand and is often repaired accurately; double-strand breaks are more severe and can cause chromosomal rearrangements if misrepaired.

  • Multiple DNA repair pathways and tradeoffs

    Different repair mechanisms vary in accuracy and speed, balancing genome integrity with cellular context and resource availability.

  • Biological consequences of mutation and repair

    Mutations can lead to disease or evolution; repair pathways influence mutation frequency and genome stability, impacting cancer risk and lethality.

  • Distinguishing inducible vs. repressible systems in bacteria

    Inducible systems activate gene expression in response to a signal; repressible systems turn off gene expression when a product is abundant.

  • Role of regulatory proteins in bacterial gene expression

    Regulatory proteins bind specific DNA sequences to either activate or repress transcription based on environmental signals.

  • Function of operons in bacteria

    Operons coordinate expression of multiple genes under a single promoter, allowing efficient regulation of related functions.

  • Positive vs. negative transcriptional control

    Positive control involves activators enhancing transcription; negative control involves repressors blocking transcription.

  • Levels of gene expression regulation in eukaryotes

    Regulation occurs at chromatin structure, transcription, RNA processing, translation, and post-translational modifications.

  • Impact of chromatin structure on transcription

    Chromatin compaction limits DNA accessibility, reducing transcription; modifications like acetylation open chromatin to promote expression.

  • Difference between cis-acting elements and trans-acting factors

    Cis-acting elements are DNA sequences near genes; trans-acting factors are proteins that bind these sequences to regulate expression.

  • Epigenetic modifications and gene expression

    Changes like DNA methylation alter gene expression without changing DNA sequence, affecting cell identity and development.

  • Dosage compensation in eukaryotes

    Mechanism that equalizes gene expression between sexes, such as X-chromosome inactivation creating cellular mosaics.

  • Forward genetics approach

    Starts with a phenotype and works to identify the responsible gene or mutation.

  • Reverse genetics approach

    Starts with a gene and investigates the phenotypic effects of its alteration or disruption.

  • Role of model organisms in genetics

    Model organisms enable experimental manipulation to infer gene function and biological mechanisms.

  • Key features of recombinant DNA technology

    DNA fragments can be cut and joined; vectors allow replication and selection of recombinant molecules.

  • Difference between genomic and cDNA libraries

    Genomic libraries contain all DNA sequences; cDNA libraries contain only expressed gene sequences without introns.

  • Gene duplication and evolution

    Gene duplication provides raw material for evolutionary innovation by creating gene copies that can acquire new functions.

  • Maternal inheritance of organellar genomes

    Organelles like mitochondria are inherited primarily from the mother, affecting patterns of inheritance.

  • Heteroplasmy and its effects

    Presence of multiple organellar genome variants in a cell causes variability in phenotype and inheritance.

  • Endosymbiotic origin of organelles

    Organelles such as mitochondria and chloroplasts originated from free-living bacteria engulfed by ancestral eukaryotic cells.

  • Developmental genetics and gene expression

    Development depends on spatial and temporal regulation of gene expression to establish body plans and cell types.

  • Patterning genes in development

    Genes that define body axes and segment identity, guiding the formation of structures during embryogenesis.