Organization of mammalian genome MCQs With Answer

Organization of mammalian genome MCQs With Answer is a focused learning resource for B. Pharm students that explains genome structure, chromatin architecture, gene regulation, and epigenetic controls in mammals. This SEO-friendly introduction highlights key concepts like nucleosomes, histone modifications, heterochromatin vs euchromatin, regulatory elements (promoters, enhancers, insulators), telomeres, centromeres, and 3D genome organization (TADs, loops). These topics are essential for understanding pharmacogenomics, drug targets, and gene expression relevant to pharmacy practice. The material includes multiple-choice questions with answers to reinforce core principles and prepare students for exams. Now let’s test your knowledge with 50 MCQs on this topic.

Q1. Which structure is the basic repeating unit of chromatin in mammalian cells?

  • Nucleosome
  • Sarcomere
  • Ribosome
  • Centromere

Correct Answer: Nucleosome

Q2. What histone proteins form the core around which DNA is wrapped in a nucleosome?

  • H1 only
  • H2A, H2B, H3, H4
  • H5 and protamines
  • H2A and H2B only

Correct Answer: H2A, H2B, H3, H4

Q3. Which histone is commonly associated with linker DNA and helps compact chromatin?

  • H3
  • H1
  • H2B
  • H4

Correct Answer: H1

Q4. DNA methylation in mammals most often occurs at which sequence context?

  • GpC sites
  • CpG sites
  • ApT sites
  • TpA sites

Correct Answer: CpG sites

Q5. Which chromatin state is typically transcriptionally active?

  • Heterochromatin
  • Centromeric chromatin
  • Euchromatin
  • Satellite DNA

Correct Answer: Euchromatin

Q6. Which enzyme adds acetyl groups to histone tails, generally activating transcription?

  • DNA methyltransferase (DNMT)
  • Histone deacetylase (HDAC)
  • Histone acetyltransferase (HAT)
  • Topoisomerase

Correct Answer: Histone acetyltransferase (HAT)

Q7. What is the functional role of CpG islands in mammalian promoters?

  • Serve as replication origins only
  • Are binding sites for ribosomes
  • Often mark promoters and regulate transcription via methylation
  • Encode microRNAs

Correct Answer: Often mark promoters and regulate transcription via methylation

Q8. Which protein is a well-known insulator binding factor involved in 3D genome organization?

  • RNA polymerase II
  • CTCF
  • DNMT3A
  • P53

Correct Answer: CTCF

Q9. Topologically associating domains (TADs) primarily describe which feature?

  • Linear gene order conservation only
  • Regions of preferential internal chromatin interactions
  • Centromere composition
  • Mitochondrial genome loops

Correct Answer: Regions of preferential internal chromatin interactions

Q10. Which of the following is a common epigenetic modification associated with gene repression?

  • H3K4 trimethylation
  • Histone acetylation
  • DNA hypomethylation
  • H3K27 trimethylation

Correct Answer: H3K27 trimethylation

Q11. Telomeres contain repetitive sequences. What is the human telomeric repeat?

  • AAUAAA
  • TTAGGG
  • CCGCGG
  • GGGCCC

Correct Answer: TTAGGG

Q12. Which enzyme maintains telomere length in many cells and is often upregulated in cancer?

  • Telomerase
  • DNA polymerase delta
  • RNA primase
  • Topoisomerase II

Correct Answer: Telomerase

Q13. Centromeres are essential for chromosome segregation. They are typically composed of:

  • Highly transcribed genes
  • Repetitive satellite DNA
  • CpG islands only
  • Mitochondrial sequences

Correct Answer: Repetitive satellite DNA

Q14. Which genomic elements increase copy number by a “copy-and-paste” mechanism via an RNA intermediate?

  • DNA transposons
  • Retrotransposons
  • Satellite repeats
  • Telomeric repeats

Correct Answer: Retrotransposons

Q15. Long non-coding RNAs (lncRNAs) in genome organization can:

  • Only code for small peptides
  • Assist in chromatin remodeling and gene regulation
  • Are exclusively mitochondrial
  • Function as replication origins

Correct Answer: Assist in chromatin remodeling and gene regulation

Q16. The C-value paradox refers to:

  • The constant GC content across species
  • The lack of correlation between genome size and organismal complexity
  • The predictable gene number in mammals
  • The relationship between chromosome number and body size

Correct Answer: The lack of correlation between genome size and organismal complexity

Q17. Which of the following best describes euchromatic replication timing?

  • Late S-phase replication
  • Early S-phase replication
  • Does not replicate
  • Only replicates during G2

Correct Answer: Early S-phase replication

Q18. Which chromatin remodeling complex is known to slide or evict nucleosomes to regulate accessibility?

  • RNA-induced silencing complex (RISC)
  • SWI/SNF complex
  • Ribosome assembly complex
  • Telomerase holoenzyme

Correct Answer: SWI/SNF complex

Q19. What is the role of DNA methyltransferase DNMT1 in mammals?

  • De novo methylation during development
  • Maintenance of methylation during DNA replication
  • Removal of methyl groups from DNA
  • Histone demethylation

Correct Answer: Maintenance of methylation during DNA replication

Q20. X-chromosome inactivation in female mammals is primarily controlled by:

  • Telomerase activity
  • XIST lncRNA coating the X chromosome
  • Centromere duplication
  • MicroRNA degradation

Correct Answer: XIST lncRNA coating the X chromosome

Q21. Which repetitive element class makes up a large fraction of the mammalian genome and can affect gene regulation?

  • tRNA genes
  • Transposable elements
  • Protein-coding exons
  • Mitochondrial DNA

Correct Answer: Transposable elements

Q22. A promoter-proximal element that increases transcription regardless of orientation is called a:

  • Terminator
  • Enhancer
  • Origin of replication
  • TATA box only

Correct Answer: Enhancer

Q23. Which sequence motif is commonly found in many eukaryotic core promoters and helps recruit transcription machinery?

  • Poly-A tail
  • TATA box
  • Telomeric repeat
  • rRNA promoter

Correct Answer: TATA box

Q24. CpG island methylation in gene promoters typically leads to:

  • Increased transcription
  • Transcriptional silencing
  • mRNA splicing changes only
  • Telomere elongation

Correct Answer: Transcriptional silencing

Q25. Which feature distinguishes heterochromatin from euchromatin microscopically?

  • Heterochromatin stains lightly and is decondensed
  • Heterochromatin is highly condensed and stains darkly
  • Euchromatin is always repetitive DNA
  • Euchromatin is found only in mitochondria

Correct Answer: Heterochromatin is highly condensed and stains darkly

Q26. Which of the following is a histone modification associated with active promoters?

  • H3K9 trimethylation
  • H3K4 trimethylation
  • H3K27 trimethylation
  • DNA crosslinking

Correct Answer: H3K4 trimethylation

Q27. Copy number variations (CNVs) in the genome can influence:

  • Only mitochondrial function
  • Gene dosage and drug response variability
  • RNA splicing exclusively
  • Only telomere length

Correct Answer: Gene dosage and drug response variability

Q28. In mammals, the majority of gene regulatory elements are located:

  • Only within coding exons
  • In promoters, enhancers, and distal regulatory regions
  • Exclusively in telomeres
  • Only in centromeres

Correct Answer: In promoters, enhancers, and distal regulatory regions

Q29. Which molecular technique maps DNA–protein interactions genome-wide and is widely used to study chromatin binding?

  • Western blot
  • Chromatin immunoprecipitation sequencing (ChIP-seq)
  • Mass spectrometry
  • Southern blot

Correct Answer: Chromatin immunoprecipitation sequencing (ChIP-seq)

Q30. Mitochondrial genome differs from nuclear genome in that the mitochondrial genome is:

  • Linear and larger than nuclear DNA
  • Circular and maternally inherited
  • Packed into nucleosomes with histones
  • Organized into TADs identical to nuclear DNA

Correct Answer: Circular and maternally inherited

Q31. Which histone variant replaces H3 in centromeric nucleosomes and is essential for kinetochore formation?

  • H3.3
  • CENP-A
  • H2AX
  • MacroH2A

Correct Answer: CENP-A

Q32. Enhancer RNAs (eRNAs) are thought to:

  • Be cleaved into tRNAs
  • Play roles in enhancer activity and gene regulation
  • Encode ribosomal proteins
  • Function as origins of replication

Correct Answer: Play roles in enhancer activity and gene regulation

Q33. Which of the following best explains the concept of gene desert regions?

  • Regions with high gene density
  • Large genomic regions with few or no genes
  • Areas packed with ribosomal genes only
  • Telomeric repeats exclusively

Correct Answer: Large genomic regions with few or no genes

Q34. DNAse I hypersensitive sites in chromatin indicate:

  • Closed chromatin inaccessible to factors
  • Open chromatin accessible to transcription factors
  • Regions of telomere repeats
  • Sites of DNA replication termination only

Correct Answer: Open chromatin accessible to transcription factors

Q35. Which non-coding RNAs are primarily involved in post-transcriptional gene silencing via RISC?

  • rRNAs
  • miRNAs
  • tRNAs
  • snRNAs

Correct Answer: miRNAs

Q36. In pharmacogenomics, variation in which genomic region of CYP genes can alter drug metabolism?

  • Only centromeres
  • Promoters, exons, introns, and copy number changes
  • Telomeres exclusively
  • Mitochondrial control region only

Correct Answer: Promoters, exons, introns, and copy number changes

Q37. Which process increases genetic diversity by exchanging DNA between homologous chromosomes during meiosis?

  • Transcription
  • Homologous recombination (crossing over)
  • DNA methylation
  • Translation

Correct Answer: Homologous recombination (crossing over)

Q38. Chromosomal translocations often contribute to cancer by:

  • Increasing mitochondrial copy number
  • Creating oncogenic fusion genes or dysregulating gene expression
  • Changing CpG island sequences only
  • Inactivating telomerase exclusively

Correct Answer: Creating oncogenic fusion genes or dysregulating gene expression

Q39. Which technique is used to visualize specific DNA sequences on chromosomes in karyotyping?

  • FISH (fluorescence in situ hybridization)
  • Northern blot
  • Chromatin conformation capture
  • ELISA

Correct Answer: FISH (fluorescence in situ hybridization)

Q40. Histone H3 variant H3K9me3 is most commonly associated with:

  • Active enhancers
  • Constitutive heterochromatin and gene silencing
  • Spliceosome assembly
  • rRNA transcription activation

Correct Answer: Constitutive heterochromatin and gene silencing

Q41. Which of the following describes an orphan receptor-binding enhancer that can act at a distance to regulate gene expression?

  • Promoter
  • Silencer only
  • Distal enhancer
  • Origin of replication

Correct Answer: Distal enhancer

Q42. The human genome project revealed approximately how many protein-coding genes in humans?

  • ~200,000 genes
  • ~20,000 protein-coding genes
  • ~1,000 genes
  • ~1 million genes

Correct Answer: ~20,000 protein-coding genes

Q43. Which of the following best defines an isoform in the context of gene expression?

  • A different species’ genome
  • Alternative splice variant of an mRNA producing different protein forms
  • DNA replication enzyme variant
  • Another name for a promoter

Correct Answer: Alternative splice variant of an mRNA producing different protein forms

Q44. Which genomic feature is most directly studied by Hi-C experiments?

  • DNA methylation patterns
  • Genome-wide chromatin 3D contacts and interactions
  • Protein expression levels
  • RNA tertiary structure

Correct Answer: Genome-wide chromatin 3D contacts and interactions

Q45. A promoter that lacks a TATA box often relies on which feature for transcription initiation?

  • CpG islands and initiator elements
  • Telomere repeats
  • tRNA promoters
  • Centromeric binding sites

Correct Answer: CpG islands and initiator elements

Q46. Which DNA repair pathway is most important for fixing double-strand breaks using a homologous template?

  • Nucleotide excision repair
  • Homologous recombination repair
  • Base excision repair
  • Mismatch repair

Correct Answer: Homologous recombination repair

Q47. The phenomenon where one allele of a gene is expressed preferentially depending on its parental origin is called:

  • X-inactivation
  • Genomic imprinting
  • Alternative splicing
  • Epistasis

Correct Answer: Genomic imprinting

Q48. Which of these elements is enriched at nucleolus organizer regions (NORs) and involved in rRNA gene clustering?

  • rDNA repeats
  • tRNA clusters
  • Centromeric satellites
  • Enhancer RNAs only

Correct Answer: rDNA repeats

Q49. Which epigenetic therapy targets histone deacetylases to modify chromatin in certain cancers?

  • DNMT inhibitors like azacitidine
  • HDAC inhibitors like vorinostat
  • Telomerase activators
  • RNA polymerase inhibitors

Correct Answer: HDAC inhibitors like vorinostat

Q50. Chromatin loops that bring enhancers into proximity with promoters are often stabilized by which combination?

  • CTCF and cohesin complexes
  • Telomerase and topoisomerase
  • Ribosomes and spliceosomes
  • DNMTs and HATs only

Correct Answer: CTCF and cohesin complexes

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