Harper's Biochemistry Chapter 35 - DNA Organization, Replication, & Repair

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Questions and Answers

Considering the mechanisms of viral integration into host genomes, which statement BEST encapsulates the critical distinction between bacteriophage integration and oncogenic virus integration regarding genomic site specificity?

  • Oncogenic viruses demonstrate absolute site specificity, integrating only within proto-oncogenes, whereas bacteriophages exhibit random integration patterns across the host genome.
  • Both bacteriophages and oncogenic viruses integrate randomly; however, oncogenic viruses possess enzymatic machinery to excise themselves precisely, leaving the host genome unaltered.
  • Bacteriophage integration is characterized by site-specific recombination at defined bacterial DNA sequences, while oncogenic virus integration generally lacks such specificity, albeit with observed site preferences. (correct)
  • Bacteriophages, unlike oncogenic viruses, exclusively utilize homologous recombination pathways, ensuring integration at predetermined bacterial chromosomal loci.

In the context of unequal crossover events within tandemly repeated DNA sequences, such as globin gene clusters, what is the MOST probable long-term consequence of slippage during base pairing regarding the evolution and homogenization of these repetitive arrays?

  • Uniform contraction of the repeat family, resulting in a highly conserved sequence with minimal variation and increased functional redundancy.
  • Expansion or contraction of copy number, potentially fixing variant members throughout the array and contributing to the dynamic evolution of the repeat family. (correct)
  • Unidirectional expansion of the repeat family, promoting genetic instability and ultimately driving the locus towards complete sequence divergence.
  • Progressive diminishment in copy number, leading to eventual loss of functional genes and pseudogenization of the entire locus over successive generations.

Given the phenomenon of transposition in eukaryotic cells, what is the most plausible implication of mobile genetic elements inserting themselves near or within a gene's regulatory sequence, considering the potential impacts on gene expression?

  • Guaranteed transcriptional silencing of the affected gene due to heterochromatin formation induced by the inserted mobile element.
  • Precise restoration of the original wild-type sequence following spontaneous excision of the mobile element, negating any long-term consequences.
  • Alteration of gene expression patterns, potentially leading to either increased, decreased, or spatially/temporally altered transcription of the gene. (correct)
  • Enhanced translational efficiency of the affected gene, driven by optimized codon usage within the mobile element's sequence.

How would the introduction of clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) (which is a gene editing technology) influence the natural process of viral integration and subsequent cellular responses, considering both the potential therapeutic applications and the evolutionary arms race between viruses and hosts?

<p>CRISPR-Cas9 could potentially disrupt or prevent viral integration by targeting viral DNA within the host cell, while also driving the evolution of viral escape mechanisms and resistance to CRISPR-Cas9 targeting. (A)</p> Signup and view all the answers

Considering the interplay between transposition and retrotransposition in eukaryotic genomes, what is the most likely long-term evolutionary consequence of a scenario where a processed gene (i.e., a gene lacking introns) is generated via retrotransposition and integrates into a new genomic location deficient in regulatory elements appropriate for its expression?

<p>The processed gene is likely to become a pseudogene due to lack of proper regulatory control, unless it integrates near or within a pre-existing active gene or under the influence of novel regulatory elements by chance or epigenetic modification. (B)</p> Signup and view all the answers

Given a human cell transitioning from interphase to metaphase, and considering the implications for transcriptional activity, what is the MOST direct consequence of the increased DNA packing ratio on gene expression?

<p>Generalized repression of transcription due to reduced accessibility of DNA to RNA polymerases and regulatory proteins. (B)</p> Signup and view all the answers

Given the intricate interplay between histone modifications and gene expression, which of the following scenarios most accurately reflects the functional consequence of introducing a histone demethylase that specifically targets H3K9me3 in a euchromatic region?

<p>No significant change in gene expression, as H3K9me3 is primarily associated with heterochromatin and has minimal impact on euchromatic regions. (B)</p> Signup and view all the answers

Assuming a diploid human cell with $6 \times 10^9$ base pairs, where each chromatid contains an average number of nucleosomes, how would the disruption of histone deacetylase (HDAC) activity MOST directly affect chromatin structure and gene expression?

<p>It would result in a more relaxed chromatin state, potentially activating transcription of previously silenced genes, but also leading to genomic instability. (D)</p> Signup and view all the answers

If a novel DNA intercalating agent is introduced into a cell undergoing mitosis, and it is observed that the metaphase chromosomes exhibit a significantly reduced packing ratio, which of the following downstream effects is MOST likely?

<p>Increased frequency of chromosomal translocations and aneuploidy due to aberrant DNA segregation. (D)</p> Signup and view all the answers

Considering the dynamic nature of histone modifications and their influence on chromatin structure, which of the following experimental designs would be most effective in elucidating the role of histone acetyltransferases (HATs) in regulating gene expression during T cell activation?

<p>Chromatin immunoprecipitation followed by sequencing (ChIP-Seq) to map the genome-wide distribution of specific histone acetylation marks (e.g., H3K27ac) in resting and activated T cells. (B)</p> Signup and view all the answers

The ATP-dependent chromatin remodeling complexes are critical in DNA accessibility. Which of the following scenarios would MOST effectively assess the functional redundancy and specificity of different chromatin remodeling complexes (e.g., SWI/SNF, ISWI, NuRD) in regulating distinct developmental processes?

<p>Generating knockout mice for each remodeling complex subunit and performing detailed phenotypic analysis to identify developmental defects. (A)</p> Signup and view all the answers

Consider a mutation that impairs the function of the condensin complex. Which of the following cellular processes would be MOST directly affected?

<p>The proper segregation of sister chromatids during mitosis. (C)</p> Signup and view all the answers

Given the recent advances in understanding non-canonical histone modifications, how would you design an experiment to determine the functional significance of 2-hydroxyisobutyrylation (Khib) on histone H4 in regulating metabolic gene expression under nutrient-deprived conditions?

<p>Perform chromatin immunoprecipitation followed by mass spectrometry (ChIP-MS) using an anti-Khib antibody to identify genomic regions enriched for Khib during nutrient deprivation. (C)</p> Signup and view all the answers

During karyotyping, chromosomes are stained to reveal banding patterns. If a particular staining method consistently fails to produce distinct bands on chromosome 5, what potential defect in chromosome structure or composition could explain this observation?

<p>A uniform distribution of histone modifications along the length of chromosome 5, preventing differential dye binding. (D)</p> Signup and view all the answers

In a hypothetical scenario, a researcher discovers a novel protein that specifically binds to intron-exon boundaries and recruits chromatin remodeling complexes. What is the MOST plausible effect of this protein on gene expression?

<p>Enhanced alternative splicing by modulating the accessibility of splice sites. (C)</p> Signup and view all the answers

Considering the role of SUMOylation in transcriptional repression, how would you investigate the specific mechanism by which SUMO modification of a particular transcription factor leads to silencing of its target genes?

<p>Generate a mutant of the transcription factor that is resistant to SUMOylation and compare its transcriptional activity to the wild-type protein using reporter assays and chromatin immunoprecipitation (ChIP). (C)</p> Signup and view all the answers

Given the importance of nucleosome phasing in regulating genome function, what experimental approach would you employ to elucidate the sequence-specific determinants of nucleosome positioning at a particular gene locus?

<p>Digest chromatin with micrococcal nuclease (MNase) followed by deep sequencing (MNase-Seq) to map nucleosome positions and correlate them with DNA sequence features. (A)</p> Signup and view all the answers

A patient presents with a novel genetic disorder characterized by abnormally short telomeres and increased levels of DNA damage. Which of the following mechanisms is MOST likely to contribute to both of these phenotypes?

<p>A mutation in a gene encoding a subunit of the shelterin complex. (D)</p> Signup and view all the answers

Considering the hierarchical organization of chromatin, which method would be most suitable to investigate the spatial proximity of a specific gene locus to the nuclear periphery during cellular differentiation?

<p>3D DNA fluorescence in situ hybridization (3D DNA FISH) with probes targeting the gene locus and the nuclear lamina to measure the distance between them. (C)</p> Signup and view all the answers

If a cell line is engineered to express a catalytically inactive mutant of topoisomerase II, what is the MOST immediate consequence on chromosome structure and cell division?

<p>Unresolved DNA catenanes leading to mitotic failure and cell cycle arrest. (A)</p> Signup and view all the answers

Given that introns are generally much longer than exons, how does the presence of numerous and extensive introns MOST significantly impact the evolutionary potential of eukaryotic genes?

<p>By facilitating exon shuffling and domain fusion, generating novel proteins with altered functions. (A)</p> Signup and view all the answers

Consider a scenario where a novel epigenetic drug causes a global reduction in the levels of 5-methylcytosine (5mC) throughout the genome. What is the MOST likely downstream consequence of this demethylation on chromatin structure and gene expression?

<p>Activation of previously silenced genes due to changes in chromatin accessibility. (B)</p> Signup and view all the answers

Given the constraints of eukaryotic DNA replication, which of the following scenarios would LEAST likely impede the accurate duplication and segregation of sister chromatids during mitosis?

<p>Elevated levels of Topoisomerase II activity, effectively resolving catenanes and torsional stress ahead of the replication fork, within permissible physiological ranges. (A)</p> Signup and view all the answers

Considering the depicted autoradiogram of chromosome IV from Chironomus tentans larvae subjected to heat shock, which of the following complex regulatory cascades offers the most parsimonious explanation for the observed co-localization of RNA polymerase II and nascent RNA transcripts at specific chromosomal loci?

<p>A chromatin remodeling complex, activated by heat shock, selectively acetylates histones at specific gene loci (e.g., 5C, A, and B bands), thereby recruiting RNA polymerase II and initiating transcription. (B)</p> Signup and view all the answers

In the context of maintaining genome stability, what is the MOST critical function of telomeres that directly prevents the activation of DNA damage response pathways and aberrant chromosomal fusions?

<p>Telomeres recruit and shelterin protein complex. (D)</p> Signup and view all the answers

Assume a cell line is engineered to express a catalytically inactive form of DNA polymerase $\alpha$. What is the MOST immediate consequence observed during S-phase?

<p>Abrogation of primer synthesis, impairing the initiation of both leading and lagging strand synthesis at replication origins. (B)</p> Signup and view all the answers

Considering the high density of genes and regulatory elements within eukaryotic genomes, what is the MOST significant challenge in ensuring accurate and timely DNA replication?

<p>Coordinating the activity of multiple DNA polymerases and accessory proteins across numerous replication origins to minimize collisions and ensure complete genome duplication within a defined S phase. (D)</p> Signup and view all the answers

A researcher discovers a novel mutation in a human cell line that disrupts the function of the CAF-1 complex. Which aspect of DNA replication would be MOST directly affected?

<p>The deposition of newly synthesized histones onto the DNA behind the replication fork. (C)</p> Signup and view all the answers

In a hypothetical scenario, a cell's mismatch repair (MMR) system is compromised, while its base excision repair (BER) pathway remains fully functional. Which type of DNA damage would accumulate MOST rapidly in this cell?

<p>Single nucleotide insertion and deletion mutations (indels). (D)</p> Signup and view all the answers

Considering the intricate process of DNA replication, what is the MOST immediate consequence of depleting the cell of Ribonuclease H1(RNase H1)?

<p>Incomplete processing of Okazaki fragments, leading to persistent RNA-DNA hybrids and genomic instability. (D)</p> Signup and view all the answers

Assuming that a novel chemotherapeutic agent is designed to selectively inhibit DNA ligase I in eukaryotic cells. What direct impact is MOST likely to be observed during DNA replication?

<p>Accumulation of single-stranded DNA breaks on the lagging strand. (A)</p> Signup and view all the answers

Considering the variable occurrence of microsatellite repeats within an individual's genome, which factor most critically enables their utility in constructing high-resolution genetic linkage maps?

<p>The inherent amenability of microsatellite regions to high-throughput, cost-effective amplification via PCR. (A)</p> Signup and view all the answers

In the context of mitochondrial gene organization, what is the most plausible functional implication of the heavy (H) and light (L) strand asymmetry observed in the encoding of mitochondrial proteins and RNAs?

<p>Differential susceptibility to oxidative damage, leading to strand-specific mutation rates and accelerated aging phenotypes. (B)</p> Signup and view all the answers

Given the propensity for alterations in nucleotide sequences, what is the most critical determinant of whether a mutation within a non-protein coding DNA region will result in a discernible phenotypic change?

<p>The degree to which the altered sequence disrupts regulatory elements influencing gene expression or chromosomal architecture. (B)</p> Signup and view all the answers

Considering the implication that AC repeat sequences are associated with myopathies, neurological disorders and some forms of diabetes mellitus, what is the most likely mechanism by which expanded AC repeats exert their pathogenic effects?

<p>Aberrant sequestration of RNA-binding proteins, leading to disruption of RNA splicing, transport, or translation. (B)</p> Signup and view all the answers

If a novel mutation is identified within the ND6 gene of human mitochondrial DNA, predict the most immediate and direct consequence on cellular function.

<p>Disruption of complex I assembly and function, resulting in decreased electron transport and ATP production. (D)</p> Signup and view all the answers

In a scenario where a researcher aims to map a novel disease gene using microsatellite markers, which experimental design would yield the most statistically robust and reliable results?

<p>Conducting a linkage analysis in a large, multigenerational family segregating the disease, using a dense panel of polymorphic microsatellite markers. (B)</p> Signup and view all the answers

Considering the proximity of the genes encoding ATPase 6 and ATPase 8 in the human mitochondrial genome, what evolutionary mechanism most likely explains their current arrangement?

<p>Gene duplication followed by sequence divergence, allowing for sub-functionalization of the resulting paralogs within the ATP synthase complex. (C)</p> Signup and view all the answers

If a cell line exhibits a significantly elevated mutation rate specifically in mitochondrial DNA, which deficiency is MOST likely to cause that phenotype?

<p>Disruption of the gene encoding a key enzyme in the base excision repair (BER) pathway within the mitochondrial matrix. (E)</p> Signup and view all the answers

Suppose a novel therapeutic intervention aims to selectively target and disrupt the replication of mitochondrial DNA. What strategy would be the MOST specific and effective in achieving this goal, minimizing off-target effects on nuclear DNA replication?

<p>Administration of a nucleoside analog with preferential incorporation kinetics into mitochondrial DNA polymerase gamma (POLG). (E)</p> Signup and view all the answers

In the context of personalized medicine, prior to prescribing aminoglycoside antibiotics, what is the most crucial genetic consideration given the potential for aminoglycoside-induced ototoxicity?

<p>Screening for the presence of specific mitochondrial DNA mutations known to predispose individuals to aminoglycoside-induced hearing loss. (D)</p> Signup and view all the answers

Considering the hierarchical folding of chromatin, what biophysical attribute of Topologically Associated Domains (TADs) MOST contributes to the insulation of gene expression patterns between adjacent genomic regions?

<p>TAD boundaries are enriched with CTCF and cohesin complexes, which facilitate loop extrusion and prevent enhancer-promoter interactions across TADs. (A)</p> Signup and view all the answers

Given the multi-layered compaction of DNA within eukaryotic chromosomes, what is the MOST energetically favorable mechanism by which a transcription factor gains access to its cognate binding site located within a region of densely packed 30-nm chromatin fibers?

<p>ATP-dependent chromatin remodeling complexes induce transient, localized DNA unwrapping, facilitating transcription factor binding without disrupting global chromatin structure. (C)</p> Signup and view all the answers

In the context of metaphase chromosome structure, what is the MOST critical role of the chromosome scaffold in ensuring accurate segregation of sister chromatids during mitosis?

<p>The chromosome scaffold organizes DNA into looped domains, reducing entanglement and facilitating disentanglement by topoisomerases, which are necessary for faithful segregation. (C)</p> Signup and view all the answers

Assuming a novel mutation occurs that disrupts the interaction between histone H1 and the nucleosome, predict the MOST immediate and direct consequence on chromatin organization, considering its impact on the transition from the 'beads-on-a-string' conformation to the 30-nm fiber.

<p>The mutation would prevent the formation of the 30-nm fiber, resulting in a more open and accessible chromatin state, potentially altering gene expression patterns. (B)</p> Signup and view all the answers

Given the varying levels of DNA packaging within the eukaryotic nucleus, what is the MOST plausible mechanism by which cells maintain the plasticity required for rapid transcriptional responses to environmental cues?

<p>Cells dynamically regulate the ratio of euchromatin to heterochromatin, allowing for rapid and coordinated changes in gene expression in response to external stimuli. (B)</p> Signup and view all the answers

Considering the interplay between DNA compaction levels and transcriptional activity, which of the following scenarios would MOST likely result in a transient, yet significant, increase in the expression of a previously silenced gene located within a heterochromatic region?

<p>Targeted recruitment of a SWI/SNF chromatin remodeling complex, coupled with histone acetyltransferase (HAT) activity, resulting in nucleosome displacement and increased accessibility of the gene's regulatory elements. (D)</p> Signup and view all the answers

In the context of nucleosome assembly, which of the following represents the MOST critical function of histone chaperones immediately following DNA replication, ensuring proper chromatin structure and preventing aberrant histone aggregation?

<p>Preventing inappropriate interactions between histones and other cellular components, guiding their ordered assembly onto newly synthesized DNA strands. (A)</p> Signup and view all the answers

Considering the role of post-translational histone modifications in regulating chromatin structure and gene expression, under which circumstances would the synergistic action of histone acetyltransferases (HATs) and histone methyltransferases (HMTs) MOST likely lead to transcriptional activation?

<p>When HATs acetylate histone H3 on lysine 9 (H3K9) to promote euchromatin formation, coupled with HMTs methylating histone H3 on lysine 4 (H3K4), a mark associated with active transcription. (B)</p> Signup and view all the answers

Given the dynamic interplay between chromatin remodeling, histone modifications, and DNA methylation, which experimental approach would be MOST effective in dissecting the specific contribution of a novel histone demethylase to the epigenetic regulation of a tumor suppressor gene in a cancer cell line?

<p>Performing chromatin immunoprecipitation followed by sequencing (ChIP-seq) using an antibody specific to the demethylated histone mark, coupled with RNA sequencing to identify target genes. (C)</p> Signup and view all the answers

Considering the multifaceted roles of histone H1 in chromatin organization, which of the following scenarios would MOST directly compromise the ability of histone H1 to mediate higher-order chromatin compaction, leading to genome instability and aberrant gene expression?

<p>A mutation that disrupts the ability of histone H1 to undergo phosphorylation during mitosis, thereby preventing proper chromosome condensation. (D)</p> Signup and view all the answers

In the context of eukaryotic gene expression, what is the MOST critical role of the spliceosome in ensuring the fidelity of mRNA translation, considering the presence of non-coding intervening sequences?

<p>To precisely excise introns and ligate exons in the primary transcript, generating a contiguous open reading frame encoding the correct protein sequence. (A)</p> Signup and view all the answers

Assuming a novel mutation prevents the efficient removal of a specific intron from a subset of mRNA transcripts, what is the MOST probable downstream effect on the expression of the affected gene, given the constraints imposed by the translational machinery?

<p>Synthesis of a truncated or non-functional protein if the intron contains premature stop codons or disrupts the reading frame. (B)</p> Signup and view all the answers

What is the fundamental distinction between the organization of genetic material in prokaryotes versus eukaryotes, regarding the presence and functional significance of non-coding intervening sequences within genes?

<p>Eukaryotic genes are characterized by the presence of introns that are removed during RNA processing, whereas prokaryotic genes generally lack such intervening sequences. (D)</p> Signup and view all the answers

Considering the evolutionary implications of intron-exon structure in eukaryotic genes, what is the MOST compelling argument for the selective advantage conferred by the presence of introns, despite their apparent energetic cost for replication and transcription?

<p>Introns enable the process of exon shuffling, facilitating the creation of new genes with novel domain architectures and functional properties. (C)</p> Signup and view all the answers

Given the dynamic interplay between transcription and RNA processing, which experimental design would be MOST effective in elucidating the regulatory role of a specific intronic sequence on the rate of transcription elongation of its host gene?

<p>Using a reporter gene assay with and without the intronic sequence inserted downstream of the promoter to measure the effect of the intron on the rate of transcription elongation. (D)</p> Signup and view all the answers

Considering the telomeric repeat sequence 5′-TTAGGG-3′ in human chromosomes, and assuming telomerase dysfunction leading to progressive telomere shortening, what is the MOST plausible long-term consequence on genome stability, given the cell's inherent DNA damage response pathways?

<p>Induction of non-homologous end joining (NHEJ) at chromosome ends, leading to increased frequency of dicentric chromosome formation and subsequent chromosome instability during mitosis. (C)</p> Signup and view all the answers

Given that telomerase is a reverse transcriptase responsible for telomere maintenance, and considering the evolutionary relationship between telomerase and viral reverse transcriptases, what is the MOST likely selective pressure that drove the initial evolution of telomerase?

<p>The adaptation to counteract the progressive shortening of linear chromosome ends during DNA replication, a challenge not faced by organisms with circular chromosomes. (D)</p> Signup and view all the answers

Considering the 8000-fold compaction of DNA within metaphase chromosomes, and acknowledging that certain transcription factors retain access to their target sequences even in highly condensed chromatin, what biophysical property MOST critically governs the accessibility of these factors?

<p>The stochastic, thermally-driven fluctuations in chromatin fiber conformation ('breathing'), creating temporary 'gaps' in the condensed structure allowing for transient transcription factor access and site recognition. (B)</p> Signup and view all the answers

In the context of chromosome structure, if a mutation disrupts the function of lamins, the MOST likely direct consequence would be which of the following?

<p>Disrupted anchoring of looped domains to the nuclear matrix, leading to altered gene expression patterns and impaired cellular differentiation. (C)</p> Signup and view all the answers

Considering chromatin packing ratios and the role of the 30-nm chromatin fiber in genome organization, what is the MOST likely consequence of a mutation that disrupts the interaction between histone H1 and the nucleosome?

<p>Disruption of higher-order chromatin structure, altering gene expression patterns and potentially leading to developmental abnormalities or tumorigenesis due to altered spatial organization of regulatory elements. (C)</p> Signup and view all the answers

The human genome consists of approximately 3 × 109 base pairs of DNA uniquely divided between 23 pairs of linear chromosomes.

<p>False (B)</p> Signup and view all the answers

If extended end-to-end, human genomic DNA would be meters in length, fitting within the cell's cytoplasm.

<p>False (B)</p> Signup and view all the answers

The association of DNA with negatively charged histone proteins leads to the formation of nucleosomes.

<p>False (B)</p> Signup and view all the answers

Chromatin, formed from strings of nucleosomes, represents a less tightly packaged and condensed form of DNA compared to chromosomes.

<p>True (A)</p> Signup and view all the answers

Chromosomes are the macroscopic functional units for cellular division, but the individual nucleotides within regulatory sequences are most essential for transcription.

<p>False (B)</p> Signup and view all the answers

Mobile genetic elements, like Alu sequences, always result in beneficial mutations when they insert into a gene.

<p>False (B)</p> Signup and view all the answers

Microsatellite sequences are composed of 7-10 base pairs repeated up to 75 times.

<p>False (B)</p> Signup and view all the answers

Mutations in mitochondrial DNA are inherited in a non-Mendelian manner, meaning an affected father will pass the trait to all his children.

<p>False (B)</p> Signup and view all the answers

Human mitochondria contain 2 to 10 copies of a small circular ~16 kbp single-stranded DNA molecule.

<p>False (B)</p> Signup and view all the answers

All proteins required for mitochondrial function are encoded by genes found within the mitochondrial DNA.

<p>False (B)</p> Signup and view all the answers

Nucleosomes, with a diameter of approximately 10 nm, are connected by RNA filaments.

<p>False (B)</p> Signup and view all the answers

Histones H2A, H2B, H3, H4 form the octameric complex around which DNA is wound in a nucleosome.

<p>True (A)</p> Signup and view all the answers

Histone modifications play a crucial role in both the structure and function of chromatin.

<p>True (A)</p> Signup and view all the answers

Histone H1 is tightly bound to chromatin and requires stringent biochemical procedures such as high salt concentrations in order to be removed.

<p>False (B)</p> Signup and view all the answers

Due to their divergent structure, histone sequences are not conserved between species, implying functional variation in eukaryotes.

<p>False (B)</p> Signup and view all the answers

Sister chromatid exchanges always result in genetic consequences regardless of whether they are equal crossovers.

<p>False (B)</p> Signup and view all the answers

In mammalian cells, gene rearrangements, like those seen in VL and CL genes encoding IgG light chains, are abnormal occurrences during development.

<p>False (B)</p> Signup and view all the answers

DNA replication can occur from either a single-stranded DNA (ssDNA) or a double-stranded DNA (dsDNA) template with equal efficiency.

<p>False (B)</p> Signup and view all the answers

The process of DNA replication in eukaryotic cells necessitates the reassembly of chromatin including nucleosomes to restore the original structure.

<p>True (A)</p> Signup and view all the answers

If a differentiated IgG-producing cell's DNA is examined, the VL and CL genes, which code for the IgG light chain, will be closely situated compared to the germ line DNA where they are widely separated.

<p>True (A)</p> Signup and view all the answers

Match the virus with the type of nucleic acid it uses to integrate into a host cell's genome:

<p>Bacteriophages = DNA Oncogenic Viruses = DNA HIV = RNA (via reverse transcriptase to DNA) Animal Viruses = DNA</p> Signup and view all the answers

Match the term to the appropriate description:

<p>Site-specific integration = Integration at a characteristic site. Unequal crossover = Expansion or contraction in the copy number of the repeat family. Transposition = Mobile elements moving in and out of host genome. Reverse transcriptase = Viral RNA-dependent DNA polymerase.</p> Signup and view all the answers

Match the gene with the related condition:

<p>Globin genes = Hemoglobinopathy Bacteriophages = Bacterial DNA integration Oncogenic virus = Integration into mammalian cell chromosomes Mobile elements = Transposition in eukaryotic cells</p> Signup and view all the answers

Match each term with its impact on the host cell:

<p>Viral DNA integration = Can be mutagenic. Transposition = Affects neighboring DNA sequences. Recombination = Incorporates bacteriophage genetic information into the host's DNA. Site preferences = Integration is not 'site specific' but displays site preferences.</p> Signup and view all the answers

Match the following recombinations to their respective process:

<p>Bacteriophages = Site specific recombination Tandem arrays of DNA = Unequal crossover Mobile elements = Transposition Animal viruses = Integration into chromosomes</p> Signup and view all the answers

Match the following mitochondrial DNA features with their descriptions:

<p>Circular, double-stranded DNA = The structural arrangement of mtDNA. Encodes 13 protein subunits = The number of protein subunits of the respiratory chain encoded by mtDNA. High mutation rate = mtDNA mutates 5-10 times faster than nuclear DNA. Encodes 22 tRNA molecules = The number of tRNA molecules the mtDNA encodes.</p> Signup and view all the answers

Match the complex with the number of subunits encoded by mtDNA:

<p>NADH dehydrogenase (complex I) = Seven Cytochrome oxidase (complex IV) = Three ATP synthase = Two Cytochrome b = One</p> Signup and view all the answers

Match the feature with the role in genetics

<p>Crossing over = Exchange of genetic information. Homologous chromosomes = Chromosomes with same genes in the same order. Reciprocal exchange = Equal exchange of genetic information. Recombinant chromosomes = Chromosomes with new combinations of genetic material.</p> Signup and view all the answers

Match each codon with its corresponding role in mitochondrial DNA:

<p>UGA = Stop codon (read as Trp) AGA = Stop codon AGG = Stop codon AUC = Isoleucine</p> Signup and view all the answers

Match each component with its size in mitochondrial DNA:

<p>Total base pairs = <code>16,569</code> bp mt ribosomal RNAs = <code>16S</code> and <code>12S</code> Untranslated sequences = Very few mt tRNA molecules = <code>22</code></p> Signup and view all the answers

Flashcards

Histone Sumoylation

Attaching SUMO (small ubiquitin-related modifier) to histones, often linked to silencing genes.

H2A.Z Replacement

Replacing H2A with H2AZ in nucleosomes, which is typically linked to starting genes.

Histone Acylations

Histone modifications via acyl groups (like acetyl) that are linked to cell metabolism and affect gene activity.

Histone Octamer

A core particle of chromatin consisting of two H2A-H2B dimers and a H3-H4 tetramer.

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Nucleosome

The basic unit of DNA packaging, containing a histone octamer wrapped by DNA.

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Nucleosome Phasing

The non-random positioning of nucleosomes on DNA, possibly due to DNA flexibility or other bound proteins.

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Higher-Order Chromatin Structures

10-nm fibril and 30-nm chromatin fiber observed via microscopy.

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Centromere

The region of a chromosome where sister chromatids are attached.

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Sister Chromatids

Two identical copies of a single chromosome that are connected by a centromere.

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Telomeres

Repetitive nucleotide sequences (TTAGGG in humans) at the ends of chromosomes that protect them from degradation.

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dsDNA

A DNA molecule made of two strands intertwined.

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RNA Polymerase II

The enzyme responsible for synthesizing messenger RNA (mRNA).

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Puff (chromosome)

A region on a chromosome that is actively being transcribed.

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Locus

A specific location or segment on a chromosome.

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Immunofluorescence

A method used to detect the presence of a specific protein (e.g., RNA polymerase II) using fluorescently labeled antibodies.

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Autoradiogram

A technique using radioactive materials to visualize biological molecules or processes.

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Lepore/Anti-Lepore Hemoglobinopathy

Hemoglobinopathy resulting from unequal crossover between misaligned genes.

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Genetic Mapping

The increased likelihood of a crossover event occurring between two genes depending on their distance from each other.

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Bacteriophages

Bacterial viruses that can integrate their DNA into a host bacterium's DNA.

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Site-Specific Integration

The integration of viral genetic material at a specific location on the host chromosome.

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Transposable Elements

Small DNA elements capable of moving in and out of a host genome.

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DNA Packing Density

DNA packing is less dense during interphase than in metaphase chromosomes.

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Transcriptional Activity (Metaphase)

Metaphase chromosomes are almost completely inactive in transcription.

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Human Haploid Genome Size

The human haploid genome contains approximately 3 x 10^9 base pairs.

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Number of Nucleosomes in Human Haploid Genome

Each of the 23 chromatids in the human haploid genome contains, on average about 1.7 x 10^7 nucleosomes

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Karyotype

A display of chromosome images arranged in homologous pairs in descending size order.

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Chromosome Staining

Chromosomes show distinct banding patterns when stained with dyes like quinacrine or Giemsa.

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Introns

Noncoding intervening sequences within a gene.

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Exons

Coding regions of a gene that are present in the final mRNA molecule.

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10-nm Fibril Packing Ratio

During interphase, DNA has a packing ratio of 7-10 when in the 10-nm fibril of nucleosomes form

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30-nm Fibril Packing Ratio

During interphase, DNA has a packing ratio of 40-60 when in the 30-nm fibril of superhelical nucleosomes form

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Microsatellites (Short Tandem Repeats)

Short, repeated DNA sequences (e.g., AC, CG, AT) found at numerous locations in the genome.

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Microsatellite Heterozygosity

The number of microsatellite repeats at a specific location (locus) can differ between the two chromosomes in an individual.

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Heritability of Microsatellites

Microsatellites are inherited and vary in repeat number, making them useful for tracking genetic inheritance.

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Polymerase Chain Reaction (PCR)

A technique used to amplify specific DNA regions, useful for detecting microsatellites.

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Genetic Linkage Maps

Diagrams showing the relative positions of genes and markers on chromosomes, often using microsatellites.

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DNA Sequence Alterations

Changes to the DNA sequence, including insertions or deletions of bases.

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Map of Human Mitochondrial Genes

A map displaying the location of genes within human mitochondrial DNA.

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ND Genes (Mitochondria)

Region of mitochondrial DNA that codes for subunits of NADH dehydrogenase.

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cyt b (Mitochondria)

Region of mitochondrial DNA that codes for cytochrome b, a component of complex III in the electron transport chain

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COX Genes (Mitochondria)

Region of mitochondrial DNA that codes for subunits of cytochrome c oxidase

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Metaphase Chromosome

The most condensed form of DNA, visible during cell division.

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Condensed Loops (DNA)

Loops of DNA attached to the chromosome scaffold.

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Chromosome Scaffold

A protein structure that organizes DNA loops and provides structural support to chromosomes.

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Topologically Associated Domains (TADs)

A way to describe regions of the genome, usually 0.5-5Mb in size, that preferentially interact with each other

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30-nm Chromatin Fibril

A fiber of packed nucleosomes, representing a more condensed form of chromatin.

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DNA Condensation

The packaging of chromosomal DNA into a more compact structure.

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Histone Acetylation

Histone modification where an acetyl group (COCH3) is added usually linked to the activation of gene transcription.

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Histone Methylation

Histone modification where a methyl group (CH3) is added correlated with activation and repression of gene transcription.

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Histone Octamer Structure

A complex of eight histone proteins (two each of H2A, H2B, H3, and H4) around which DNA is wrapped.

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Nucleosome Core Particle

The fundamental repeating unit of chromatin, consisting of DNA wrapped around a histone octamer.

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Telomere Repeats

Short, repeating sequences (TTAGGG in humans) within telomeres.

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Telomerase Function

The enzyme responsible for telomere synthesis, maintaining telomere length.

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mRNA Precursors (hnRNA)

Primary RNA transcripts that contain non-protein coding sequences.

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RNA Splicing

The process of removing introns and joining exons to form mature mRNA.

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Introns Definition

Noncoding sequences that are removed from the primary transcript during RNA splicing.

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Exons Definition

Coding sequences that are joined together during RNA splicing to form the mature mRNA.

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Gene Regulatory Region

The segments of a gene that controls its transcription (often found upstream).

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Human Chromosomes

The 23 distinct linear DNA molecules in a human cell.

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Chromatin

A complex of DNA and histone proteins.

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Histones

Positively charged proteins that bind DNA to form nucleosomes.

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Core Histones

Histones that form the nucleosome core: H2A, H2B, H3, and H4.

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Histone H1

Histone variant that binds less tightly to chromatin and is easily removed.

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Microsatellite Repeats

Repetitive DNA sequences, 2-6 bp long, repeated up to 50 times in the genome.

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Mobile Elements (e.g., Alu)

Mobile genetic elements that can move to different locations in the genome; Alu sequences are examples.

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Mitochondrial DNA (mtDNA)

Small, circular (~16 kbp) DNA molecule found in mitochondria, coding for respiratory chain proteins and mt-RNAs.

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Maternal Inheritance (mtDNA)

The inheritance pattern where mitochondrial genes are passed from mother to all children, but only daughters transmit it.

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SINE RNAs

Short interspersed nuclear elements; may regulate mRNA production.

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Sister Chromatid Exchange

Exchange of genetic material between sister chromatids. Usually inconsequential, unless unequal.

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Immunoglobulin Gene Rearrangement

Genes encoding the variable and constant regions of immunoglobulin light chains rearrange during B cell development.

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DNA Replication

The process of copying DNA to produce identical DNA molecules to provide progeny with its genetic information.

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ssDNA Template Requirement

DNA replication requires a single-stranded DNA template to occur. The double helix needs to be unwound.

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Steps in DNA Replication

Process of DNA replication requires accurately targeting the initiation site, unwinding dsDNA, forming the replication complex, reforming dsDNA, and chromatin structure.

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Crossing Over

Exchange of genetic material between homologous chromosomes, leading to new combinations of genes.

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mtDNA Strands

The heavy (H) and light (L) chains that compose mitochondrial DNA.

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mtDNA Function

mtDNA encodes subunits for proteins in the respiratory chain, ribosomal RNAs, and tRNAs.

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mtDNA Genetic Code Variations

UGA codes for tryptophan (Trp), and AGA/AGG act as stop codons.

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Unequal Crossover

Crossover between misaligned tandemly repeated DNA strands, resulting in an expansion or contraction of repeats.

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Bacteriophage Integration

The process where bacteriophage DNA is integrated linearly into the host's DNA.

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Site-Specific Viral Integration

Integration of viral DNA into a host cell's genome at a specific site.

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Reverse Transcriptase

Enzymes that generate double-stranded DNA from viral RNA.

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Transposition

The capacity of genetic elements to move to different locations within the genome.

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Study Notes

  • Mutations often affect somatic cells and are passed on to successive generations of cells, but only within an organism
  • It is becoming apparent that a number of diseases-and perhaps most cancers-are due to the combined effects of vertical transmission of mutations as well as horizontal transmission of induced mutations and the impact thereof on cellular function.

Coding Region Interruption

  • The function of intervening sequences, or introns, is not totally clear.
  • However, mRNA precursor molecules can be differentially spliced thereby increasing the number of distinct (yet related) proteins produced by a single gene and its corresponding primary mRNA gene transcript.
  • Introns may also serve to separate functional domains (exons) of coding information in a form that permits genetic rearrangement by recombination to occur more rapidly than if all coding regions for a given genetic function were contiguous.
  • Such an enhanced rate of genetic rearrangement of functional domains might allow more rapid evolution of biologic function.
  • In some instances, other protein-coding or noncoding RNAs are localized within the intronic DNA of certain genes (see Chapter 34).

DNA Organization

  • Each of the human haploid chromatids would contain on average 1.3 × 10º nucleotides in one dsDNA molecule.

DNA Synthesis Control

  • If a mammalian genome replicated at the same rate as bacteria from a single ori, replication would take over 150 hours!
  • Metazoan organisms get around this problem using two strategies including replication is bidirectional and occurs from multiple origins in each chromosome with a total of as many as 100 in humans.

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