Module 2: Chromosomes & Genes
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What are the three main components of DNA, and how are they structured within nucleotides?

The three main components of DNA are nitrogenous bases, deoxyribose sugars, and phosphates, structured as nucleotides that link to form long strands.

Explain the significance of hydrogen bonds and phosphodiester bonds in DNA structure.

Hydrogen bonds stabilize the pairing between adenine-thymine and guanine-cytosine, while phosphodiester bonds link the sugar-phosphate backbone of DNA.

How do purines and pyrimidines pair in DNA, and why is this pairing essential?

Purines (adenine and guanine) pair with pyrimidines (thymine and cytosine), ensuring stable base pairing necessary for DNA's double-helix structure.

Describe the organization and inheritance of nuclear DNA in humans.

<p>Humans have nuclear DNA organized into 22 pairs of autosomes and two sex chromosomes, inherited from both parents.</p> Signup and view all the answers

What are the key characteristics of mitochondrial DNA (mtDNA) and its role in cellular metabolism?

<p>Mitochondrial DNA is circular, consists of about 17,000 base pairs, and is crucial for cellular metabolism, being inherited maternally.</p> Signup and view all the answers

Explain the process of DNA condensation in eukaryotic cells.

<p>DNA condenses by wrapping around histone proteins to form nucleosomes, which further coil into fibers and loops for efficient packing in the nucleus.</p> Signup and view all the answers

What is the role of nucleosomes in the organization of DNA?

<p>Nucleosomes, formed by DNA wrapping around histones, serve as the fundamental units of chromatin that aid in the compaction and organization of DNA.</p> Signup and view all the answers

How does the antiparallel arrangement of DNA strands contribute to its stability?

<p>The antiparallel orientation of DNA strands enables complementary base pairing and hydrogen bonding, enhancing the overall stability of the double helix.</p> Signup and view all the answers

What role do exons play in protein synthesis?

<p>Exons specify amino acids organized into codons for protein synthesis.</p> Signup and view all the answers

Describe the Central Dogma in the context of genetic information flow.

<p>The Central Dogma describes the flow of genetic information as DNA being transcribed into RNA, which is then translated into proteins.</p> Signup and view all the answers

What is the function of RNA polymerase II in transcription?

<p>RNA polymerase II synthesizes mRNA by binding to the promoter region of a gene and transcribing the DNA into RNA.</p> Signup and view all the answers

Explain the significance of the 5′ cap added to mRNA during RNA processing.

<p>The 5′ cap protects mRNA from degradation, aids in its transport out of the nucleus, and is necessary for ribosome attachment.</p> Signup and view all the answers

What are introns and why must they be spliced out of pre-mRNA?

<p>Introns are non-coding sequences in pre-mRNA that must be removed to produce a functional mRNA for translation.</p> Signup and view all the answers

How is the mRNA synthesized during transcription related to the DNA template strand?

<p>The mRNA is synthesized as a complementary strand to the DNA template strand, using A-U, T-A, C-G, and G-C base pairing.</p> Signup and view all the answers

What signals the end of the transcription process?

<p>A termination sequence in the DNA signals the end of transcription.</p> Signup and view all the answers

Identify the primary function of signal transduction pathways in cells.

<p>Signal transduction pathways regulate gene expression in response to external cues, influencing cell functions.</p> Signup and view all the answers

What are the primary differences between euchromatin and heterochromatin?

<p>Euchromatin is loosely packed and accessible for gene expression, while heterochromatin is densely packed and generally inactive.</p> Signup and view all the answers

Describe the structure and function of telomeres in chromosomes.

<p>Telomeres are protective sequences at chromosome ends that prevent gene loss during replication, maintained by telomerase.</p> Signup and view all the answers

How do autosomes and sex chromosomes differ in terms of their genetic contribution?

<p>Autosomes are identical in both sexes and carry genes that are not sex-specific, while sex chromosomes (XX in females, XY in males) determine sexual characteristics.</p> Signup and view all the answers

Explain the significance of homologous chromosomes in genetic variation.

<p>Homologous chromosomes contain similar genes but can have different alleles, contributing to genetic diversity through recombination.</p> Signup and view all the answers

What defines a diploid organism, and how does it differ from aneuploidy?

<p>A diploid organism has two complete sets of chromosomes (2n), while aneuploidy refers to an abnormal number of chromosomes, either missing or additional.</p> Signup and view all the answers

What role does the SRY gene on the Y chromosome play in human development?

<p>The SRY gene is responsible for male sex determination, triggering pathways for male reproductive development.</p> Signup and view all the answers

Outline the process by which DNA is transcribed into messenger RNA.

<p>During transcription, DNA is copied into mRNA, which then undergoes splicing to remove introns, allowing for protein synthesis.</p> Signup and view all the answers

What is the significance of chromosome shape, particularly the metacentric structure of the X chromosome?

<p>The metacentric shape of the X chromosome, with a centrally located centromere, aids during cell division by ensuring proper segregation.</p> Signup and view all the answers

What is the role of the spliceosome in mRNA processing?

<p>The spliceosome facilitates the splicing together of coding regions, or exons, to form a continuous mRNA strand.</p> Signup and view all the answers

Explain the importance of the poly(A) tail in mRNA.

<p>The poly(A) tail enhances mRNA stability, aids in export from the nucleus, and initiates translation.</p> Signup and view all the answers

How does tRNA ensure the correct amino acid is added to the growing polypeptide chain?

<p>tRNA molecules carry amino acids and have anticodons that are complementary to the mRNA codons, ensuring accurate amino acid incorporation.</p> Signup and view all the answers

Describe the initiation stage of translation.

<p>During initiation, the small ribosomal subunit binds to mRNA, identifies the start codon (AUG), and the initiator tRNA binds to it, followed by the large subunit's attachment.</p> Signup and view all the answers

What occurs during the elongation stage of translation?

<p>The ribosome moves along the mRNA, reading codons and recruiting tRNA molecules that bring specific amino acids, forming peptide bonds.</p> Signup and view all the answers

What is the significance of stop codons in translation?

<p>Stop codons signal the termination of translation, leading to the release of the polypeptide chain from the ribosome.</p> Signup and view all the answers

List two common post-translational modifications and their roles.

<p>Two common modifications are phosphorylation, which can regulate protein activity, and glycosylation, which affects protein stability and cell signaling.</p> Signup and view all the answers

How does proteolytic cleavage contribute to protein functionality?

<p>Proteolytic cleavage, like the conversion of proinsulin to insulin, activates the protein and allows it to carry out its biological function.</p> Signup and view all the answers

What role do siRNAs and miRNAs play in gene regulation?

<p>siRNAs and miRNAs regulate gene expression by guiding mRNA degradation or inhibiting translation.</p> Signup and view all the answers

Explain the significance of Lyon's Hypothesis in the context of X-chromosome inactivation.

<p>Lyon's Hypothesis explains that in female mammals, one of the two X chromosomes is randomly inactivated to ensure equivalent gene expression levels with males.</p> Signup and view all the answers

Describe the concept of random X-chromosome inactivation and its consequences in female mammals.

<p>Random X-chromosome inactivation results in a mosaic pattern of gene expression, leading to varying symptoms in female carriers of X-linked diseases.</p> Signup and view all the answers

What is meant by the term 'Barr body' in relation to X-chromosome inactivation?

<p>A Barr body is the condensed structure formed by the inactivated X chromosome in female cells.</p> Signup and view all the answers

How does alternative splicing contribute to proteomic complexity?

<p>Alternative splicing allows approximately 95% of human genes to produce multiple protein isoforms, enhancing proteomic diversity.</p> Signup and view all the answers

What is the process of RNA-directed DNA synthesis observed in retroviruses?

<p>RNA-directed DNA synthesis is the process where RNA serves as a template for synthesizing DNA, exemplified by retroviruses.</p> Signup and view all the answers

Explain the importance of semiconservative replication in genetic stability.

<p>Semiconservative replication ensures each new DNA double helix consists of one parental and one new strand, maintaining genetic stability.</p> Signup and view all the answers

How does the mechanism of X-inactivation contribute to evolutionary significance?

<p>X-inactivation promotes survival and adaptability by ensuring balanced gene expression and preventing dosage imbalance between sexes.</p> Signup and view all the answers

Study Notes

Module 2: Chromosomes & Genes

  • DNA is the hereditary material, encoding the blueprint for all organisms.
  • DNA structure consists of nitrogenous bases, deoxyribose sugars, and phosphates, forming nucleotides.
  • DNA has four bases: adenine (A), thymine (T), guanine (G), and cytosine (C).
  • Purines (A and G) pair with pyrimidines (T and C) via hydrogen bonds, forming stable base pairs.
  • DNA forms a double helix structure, protecting genetic information.
  • DNA in organisms has varying structures and roles.
  • Nuclear DNA: governs cellular functions and traits, organized into chromosomes inherited from both parents.
  • Humans have 22 pairs of autosomes and one pair of sex chromosomes.
  • Mitochondrial DNA (mtDNA): circular DNA found in mitochondria, crucial for cellular metabolism, inherited maternally, contains 37 genes.
  • DNA is organized into progressively compact structures within eukaryotic cells: -DNA wraps around histone proteins to form nucleosomes. -Nucleosomes create a 10nm fiber, known as primary chromatin. -Chromatin loops form a 30nm fiber, further condensing into chromatids.
  • Chromosomes: tightly packed DNA structures visible during cell division, enabling efficient gene distribution.
  • Euchromatin: loosely packed, accessible for gene expression.
  • Heterochromatin: densely packed, generally inactive.
  • Chromosomes have a centromere for spindle attachment during division and two arms (p and q).
  • Telomeres are protective sequences at chromosome ends maintained by telomerase to prevent gene loss.
  • Autosomes (chromosome 1-22): identical in males and females
  • Sex chromosomes (X and Y): determine sex (XX in females, XY in males), similar genes but possibly different alleles.
  • X chromosome: relatively large; plays a key role in development.
  • Y chromosome: smallest human chromosome, carries the SRY gene responsible for male sex determination.
  • Humans are diploid (2n), having two complete sets of chromosomes from each parent.
  • Aneuploidy: having an abnormal number of chromosomes (e.g., monosomy, trisomy).
  • Polyploidy: having more than two sets of chromosomes.
  • Genes: functional units of heredity composed of a specific DNA sequence encoding instructions for protein/RNA synthesis.
  • Genes consist of coding regions (exons) and non-coding regions (introns).
  • Gene expression: DNA is transcribed into mRNA, which is then translated into proteins through a series of steps.

Transcription: From DNA to mRNA

  • Transcription is the process of copying a segment of DNA into mRNA.
  • mRNA uses uracil (U) in place of thymine (T).
  • RNA polymerase II synthesizes mRNA, binding to the DNA promoter region, unwinding DNA, and adding ribonucleotides to the growing mRNA strand (3' to 5' direction).

RNA Processing: Preparing mRNA for Translation

  • mRNA undergoes processing before exiting the nucleus.
    • 5' capping: adds a modified guanine nucleotide to protect and facilitate ribosome attachment.
    • Splicing: removes non-coding introns, linking together coding exons (facilitated by spliceosome).
    • Polyadenylation: adds a poly(A) tail (adenine nucleotides) to enhance mRNA stability and transport.

Translation: From mRNA to Protein

  • Translation occurs in the cytoplasm: ribosomes bind to mRNA, reading codons which are three-base sequences
  • tRNA molecules carry specific amino acids to the ribosome & correctly match mRNA codons.
  • Peptide bonds form between amino acids to build a polypeptide chain which eventually becomes a protein.
  • mRNA is read in 5' to 3' direction.

Post-Translational Modifications

  • Proteins undergo further modifications after translation, altering their function, stability, and location.
  • Examples: phosphorylation, acetylation, methylation, glycosylation, lipidation and proteolytic cleavage.

Regulation of Gene Expression

  • Gene expression is primarily regulated at the transcription level & controlled by factors.
  • RNA-mediated gene expression: microRNAs/siRNAs regulate mRNA stability and translation.

Lyon's Hypothesis: X Chromosome Inactivation

  • Females have two X chromosomes; one is randomly inactivated to compensate for dosage differences between sexes.
  • Inactivation is permanent in all daughter cells.
  • Inactivated X chromosome forms a Barr body, contributing to gene expression differences.

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Explore the fundamental concepts of DNA, chromosomes, and genes in Module 2. This quiz covers the structure of DNA, its roles, and inheritance patterns. Test your knowledge on the different types of DNA and their significance in cellular functions.

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