9!!Molecular Mechanisms of Disease Quiz

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Questions and Answers

What is the primary role of exons in mRNA processing?

  • They consist primarily of conserved splice site sequences.
  • They are sequences that are removed before the RNA becomes functional.
  • They are parts of the gene that contribute to the mature RNA product. (correct)
  • They are intervening sequences that develop into noncoding RNA.

Which of the following best describes introns?

  • They are responsible for the splicing process, facilitating exon recruitment.
  • They are sequences removed during mRNA processing and account for ~95% of pre-RNA. (correct)
  • They contain conserved sequences necessary for the translation of RNA.
  • They are crucial for protein coding and are included in the mature RNA.

What is the significance of the 5’ and 3’ splice sites?

  • They are the locations where ribosomal subunits attach to mRNA.
  • They are highly conserved sequences that signal where splicing occurs. (correct)
  • They are essential for initiating transcription of the RNA.
  • They represent the boundaries of pseudogenes within the genomic sequence.

What role do exonic splicing enhancers (ESE) play in splicing?

<p>They help recruit snRNPs to the splicing machinery. (B)</p> Signup and view all the answers

Approximately what percentage of human inherited diseases may result from splicing errors?

<p>15-30% (B)</p> Signup and view all the answers

What is the primary role of RNA polymerase II in transcription?

<p>To synthesize complementary RNA from a DNA template (C)</p> Signup and view all the answers

Which component is NOT required for the process of translation?

<p>Transcription factors (D)</p> Signup and view all the answers

What is the fate of the primary transcript known as pre-mRNA once it is synthesized?

<p>It undergoes processing before becoming mature mRNA (D)</p> Signup and view all the answers

What is NOT a feature of heterogeneous nuclear RNA (hnRNA)?

<p>It is composed of mature mRNA only (C)</p> Signup and view all the answers

Which processing step involves adding a protective cap to the 5' end of pre-mRNA?

<p>Capping (C)</p> Signup and view all the answers

What is produced at the end of the transcription process?

<p>Messenger RNA (mRNA) (C)</p> Signup and view all the answers

Which of the following is NOT required for translation?

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

What is the primary function of the C-terminal domain (CTD) of RNA polymerase during transcription?

<p>To organize factors for pre-mRNA processing (A)</p> Signup and view all the answers

Which statement accurately describes heterogeneous nuclear RNA (hnRNA)?

<p>It serves as a precursor RNA that is short-lived. (D)</p> Signup and view all the answers

Which of the following processing events occurs to pre-mRNA?

<p>Polyadenylation (D)</p> Signup and view all the answers

What is the primary function of the spliceosome during mRNA processing?

<p>To perform RNA splicing (A)</p> Signup and view all the answers

Which component of the spliceosome is responsible for the cleavage of the 5’ splice site?

<p>U6 snRNA (A)</p> Signup and view all the answers

What role does U2AF play in the splicing process?

<p>It aids in the attraction of U2 snRNP (A)</p> Signup and view all the answers

How does the presence of U4/U6 snRNPs influence the splicing of pre-mRNA?

<p>They form a stable duplex before U6 displacement (B)</p> Signup and view all the answers

What is the significance of alternative splicing in gene expression?

<p>It allows a single gene to code for multiple polypeptides (B)</p> Signup and view all the answers

What is the starting material required for the transcription process?

<p>DNA (C)</p> Signup and view all the answers

Which of the following is a required component for translation?

<p>Ribosomal RNA (rRNA) (A)</p> Signup and view all the answers

What is the end product of the translation process?

<p>Polypeptide (D)</p> Signup and view all the answers

What type of RNA is generated during the process of transcription?

<p>Messenger RNA (mRNA) (A)</p> Signup and view all the answers

What is the primary role of the C-terminal domain (CTD) of RNA polymerase during transcription?

<p>To organize factors for pre-mRNA processing (C)</p> Signup and view all the answers

Where are tRNA genes primarily located within the genome?

<p>In small clusters scattered around the genome (A)</p> Signup and view all the answers

What type of RNA polymerase is responsible for transcribing tRNAs?

<p>RNA polymerase III (A)</p> Signup and view all the answers

What role do tRNA isoacceptors play in protein synthesis?

<p>They decode mRNA codons into amino acids (A)</p> Signup and view all the answers

What is referred to as 'codon degeneracy' in the genetic code?

<p>The ability to have one amino acid coded by multiple codons (C)</p> Signup and view all the answers

What is the role of small nuclear ribonuclear proteins (snRNPs) in mRNA processing?

<p>They assist in the recruitment of proteins necessary for splicing. (A)</p> Signup and view all the answers

Which of the following statements accurately reflects the characteristics of introns?

<p>They are noncoding sequences intervening between exons. (D)</p> Signup and view all the answers

What specific sequence marks the 5' splice site in pre-mRNA?

<p>G/GU (C)</p> Signup and view all the answers

What is the estimated percentage of human inherited diseases that may arise from splicing errors?

<p>15-30% (B)</p> Signup and view all the answers

What is the function of exonic splicing enhancers (ESE)?

<p>They recruit snRNPs to facilitate splicing. (C)</p> Signup and view all the answers

What is the main role of U1 snRNP during RNA splicing?

<p>It attaches to the 5’ splice site. (C)</p> Signup and view all the answers

Which molecule is primarily responsible for catalyzing the first cleavage reaction during RNA splicing?

<p>U6 snRNA (B)</p> Signup and view all the answers

What is the function of the U2AF protein in the splicing process?

<p>To bind the branch point sequence (D)</p> Signup and view all the answers

What occurs during the second cleavage reaction in RNA splicing?

<p>Exons are ligated and the lariat intron is excised (B)</p> Signup and view all the answers

Flashcards

Exons

Parts of a gene that are included in the final mRNA product.

Introns

Non-coding sequences within a gene that are removed during mRNA processing.

RNA splicing

The process of removing introns from pre-mRNA and joining exons together.

Splice sites

Specific sequences at the boundaries of exons and introns where the RNA is cut and joined.

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snRNPs

Small nuclear ribonucleoproteins; complexes of proteins and small nuclear RNAs crucial to the splicing process.

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Gene Transcription

The process of creating RNA from a DNA template inside the nucleus.

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mRNA (messenger RNA)

RNA molecule that carries the genetic code from DNA to the ribosomes for protein synthesis.

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Pre-mRNA/hnRNA

The initial RNA molecule created during transcription, later processed into mature mRNA.

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RNA Polymerase II

The enzyme responsible for creating pre-mRNA during transcription.

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C-terminal domain (CTD) of RNA polymerase

A part of RNA polymerase that organizes factors for processing pre-mRNA, including capping, polyadenylation, and splicing.

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Pre-mRNA

The initial RNA molecule created during transcription, also called heterogeneous nuclear RNA (hnRNA). It is a longer transcript that contains both introns and exons and will be further processed to remove introns and become mature mRNA.

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Heterogeneous Nuclear RNA (hnRNA)

Another name for pre-mRNA; the initial RNA transcript produced during transcription, containing both introns and exons.

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Transcriptional Unit

The entire length of DNA that is transcribed into pre-mRNA, including both introns and exons.

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What does pre-mRNA associate with?

Pre-mRNA is always associated with proteins; it is not naked.

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Why is pre-mRNA short-lived?

Pre-mRNA has a short lifespan because it is quickly processed into mature mRNA.

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What's the role of snRNPs in splicing?

Small nuclear ribonucleoproteins (snRNPs) are essential for splicing pre-mRNA into mature mRNA. They recognize splice sites and help to cut out introns and join exons together.

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What is the Spliceosome?

The spliceosome is a large molecular machine responsible for removing introns from pre-mRNA. It's made up of snRNPs and associated proteins.

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How does U1 snRNP initiate splicing?

U1 snRNP binds to the 5' splice site of pre-mRNA, recognizing the G/GU sequence. The U1 snRNA within the snRNP has a sequence complementary to the 5' splice site.

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What's the function of U2AF in splicing?

U2 Auxiliary Factor (U2AF) is a protein that binds to the polypyrimidine tract and 3' splice site of pre-mRNA. It then attracts U2 snRNP.

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What happens when U4/U6 and U5 snRNPs bind to pre-mRNA?

U4/U6 and U5 snRNPs join the splicing complex. U4 snRNA detaches, allowing U6 to pair with U2 snRNA. This displaces U1, and U6 then binds to the 5' splice site.

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What is pre-mRNA?

Pre-mRNA is the initial RNA transcript created during transcription. It contains both introns and exons. It is also referred to as heterogeneous nuclear RNA (hnRNA).

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Why is pre-mRNA called hnRNA?

Pre-mRNA is also called heterogeneous nuclear RNA (hnRNA) because it is a diverse mix of RNA molecules found in the nucleus.

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What is a transcriptional unit?

The transcriptional unit is the entire length of DNA that's transcribed into pre-mRNA, including both introns and exons.

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Why is pre-mRNA associated with proteins?

Pre-mRNA is always associated with proteins, forming ribonucleoprotein complexes. It's never 'naked' RNA.

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What's the lifespan of pre-mRNA?

Pre-mRNA has a short lifespan because it is quickly processed to remove introns and prepare for translation.

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What are introns?

Introns are non-coding sequences within a gene that are removed during mRNA processing. They are not included in the final mature RNA product.

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What are exons?

Exons are coding sequences within a gene that are included in the mature RNA product. They are the 'expressed' parts of the gene.

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What are splice sites?

Splice sites are specific sequences at the boundaries of exons and introns where the RNA is cut and joined. They are highly conserved.

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What are snRNPs?

snRNPs are small nuclear ribonucleoproteins. They are complexes of proteins and small nuclear RNAs (snRNAs) that are essential for splicing pre-mRNA.

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What is the function of ESEs?

Exonic splicing enhancers (ESEs) are sequences within exons that help recruit snRNPs, promoting efficient splicing. They help ensure the correct exons are included in the final mRNA product.

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What does U1 snRNP bind to?

U1 snRNP binds to the 5' splice site of pre-mRNA, which is located at the beginning of an intron.

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What is U2AF's role in splicing?

U2AF (U2 Auxiliary Factor) helps U2 snRNP bind to the branch point sequence, which is a specific region within an intron.

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What happens after U4/U6 and U5 snRNPs bind?

U4/U6 and U5 snRNPs bind to the pre-mRNA, and then U4 snRNA is removed. This allows U6 to pair with U2 snRNA, displacing U1 and associating with the 5' splice site.

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What does the ribozyme U6 do?

U6 is a ribozyme, meaning it's an RNA molecule that catalyzes, or speeds up a chemical reaction. It catalyzes the first cleavage (Rx1) of the 5' splice site, releasing the 5' exon and creating a lariat intron.

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What happens during the second cleavage reaction?

The second cleavage reaction (Rx2) at the 3' splice site removes the lariat intron and joins the two exons together. The snRNPs are then released and can participate in splicing other introns.

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tDNA Gene Clusters

Groups of tRNA genes arranged in tandem (one after another) on a chromosome.

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Nontranscribed Spacer (NTS)

A region of DNA that separates individual tRNA gene units within a cluster, preventing them from being transcribed together.

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tRNA Promoter

A specific DNA sequence within a tRNA gene that signals where transcription should begin.

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tRNA Processing

The series of modifications made to a newly transcribed tRNA molecule, including trimming and base modifications, that prepare it for its role in protein synthesis.

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Why does tRNA need processing?

tRNA transcripts need processing to become a functional molecule for protein synthesis. The steps include removing extra nucleotides (trimming) and modifying bases, ensuring correct structure and function.

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Study Notes

Molecular Mechanisms of Disease

  • HSS2305: Course focusing on molecular mechanisms of disease.
  • Covered lecture topics include gene transcription and translation.

Gene Transcription and Translation

  • The process of synthesizing complementary RNA from a DNA template in the nucleus is transcription.
  • Starting material for transcription is DNA.
  • RNA polymerase II and transcription factors are essential for transcription machinery.
  • Messenger RNA (mRNA) is the end product of transcription.
  • Translation is the synthesis of proteins in the cytoplasm using information encoded in mRNA.
  • The starting material for translation is mRNA.
  • Ribosomal RNA (rRNA), ribosomal proteins, and transfer RNA (tRNA) are required for translation machinery.
  • The end product of translation is a polypeptide.

Transcription - Processing mRNA

  • Primary transcript is also referred to as pre-mRNA or heterogeneous nuclear RNA (hnRNA).
  • Primary transcripts are equivalent in length to the whole DNA being transcribed.
  • Such transcripts are always associated with proteins.
  • They have a short life span.
  • 5' Caps:
    • Capping enzymes are recruited by the phosphorylated CTD (Ser-5 phosphorylation by TFIIH).
    • Prevents digestion of the 5` end from exonucleases.
    • Aids in the transport of mRNA out of the nucleus.
    • Important in initiating translation.
  • 3' poly(A) tail:
    • Poly(A) tail enzymes are recruited by phosphorylated CTD.
    • Protects mRNA from premature degradation by exonucleases.
  • RNA splicing:
    • Exons are parts of the gene that contribute to mature RNA product.
    • Introns are intervening sequences, noncoding segments not included in mature RNA (about 95% of pre-RNA).
    • Splice sites and exon-intron boundary sequences, typically G/GU and AG/G respectively, are highly conserved.
    • Splicing involves breaking at the 5 and 3 ends.
    • Small nuclear ribonuclear proteins (snRNPs), consist of small nuclear RNAs (snRNAs), and associated proteins, are critical to splicing.
    • U1, U2, U4, U5, and U6 snRNAs are examples of snRNA involved in splicing.

Transcription - rRNA and tRNA

  • DNA transcribes to produce various RNA types, including mRNA, rRNA, and tRNA.
  • rRNA (ribosomal RNA) is a crucial component of ribosomes (80% of a cell's RNA).
  • rRNA comprises four different ribosomal RNAs (rRNAs): 18S, 5.8S, 28S, and 5S.
  • rRNA transcription takes place in nucleoli in eukaryotic cells.
  • rDNA clusters which contain genes encoding rRNA are arranged in tandem.
  • rRNA transcription pattern is like a Christmas tree.
  • tRNA (transfer RNA) links mRNA codons to amino acids during polypeptide synthesis.
  • tRNA genes are scattered throughout the genome, arranged in tandem.
  • tRNA precursors undergo modifications
  • Nontranscribed spacers (NTS) separate units in such clusters.

Translation

  • rRNA is transcribed by RNA pol I.
  • tRNA is transcribed by RNA pol III.
  • Codons are nucleotide triplets that match with specific amino acids.
  • Anticodons are tRNA sequences that complement mRNA codons.
  • Codon degeneracy reduces the effect of DNA mutations
  • Wobble pairing is when the third position of a codon-anticodon pairing is not crucial.
  • Aminoacyl-tRNA synthetases (AARS) link amino acids to tRNAs.
  • Translation initiation is a multi-step process that includes the binding of various initiation factors to the ribosomal subunit.
  • Translation elongation and termination are progressive processes involving addition and release of amino acids and stop codons.
  • Ribosomes provide the locations where these processes occur, and have three sites where tRNAs reside.
  • Polyribosomes (polysomes) are multiple ribosomes on a single mRNA that increase the rate of protein synthesis.

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