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Questions and Answers
What replaces T in the mRNA sequence when compared to the DNA sequence?
What replaces T in the mRNA sequence when compared to the DNA sequence?
U (uracil) replaces T (thymine) in the mRNA sequence.
What is the role of the antisense strand in mRNA production?
What is the role of the antisense strand in mRNA production?
The antisense strand serves as the template for mRNA production and is complementary to the RNA transcript.
Define tandem repeats and give examples of their types.
Define tandem repeats and give examples of their types.
Tandem repeats are stretches of repeated DNA sequences; examples include satellites, minisatellites, and microsatellites.
How do tandem repeats arise during DNA replication?
How do tandem repeats arise during DNA replication?
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What are transposons and why are they referred to as 'jumping genes'?
What are transposons and why are they referred to as 'jumping genes'?
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What is the role of the centromere in chromosome structure?
What is the role of the centromere in chromosome structure?
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How do telomeres contribute to chromosome stability?
How do telomeres contribute to chromosome stability?
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What distinguishes purines from pyrimidines in the structure of nucleotides?
What distinguishes purines from pyrimidines in the structure of nucleotides?
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Describe the function of the sense strand in gene structure.
Describe the function of the sense strand in gene structure.
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In addition to protein-coding genes, what types of functional RNAs are encoded in the human genome?
In addition to protein-coding genes, what types of functional RNAs are encoded in the human genome?
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What percentage of the human genome is represented by the exome?
What percentage of the human genome is represented by the exome?
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Describe the difference in structure between mitochondrial DNA and nuclear DNA.
Describe the difference in structure between mitochondrial DNA and nuclear DNA.
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What are the primary roles of the 13 genes encoded by mitochondrial DNA?
What are the primary roles of the 13 genes encoded by mitochondrial DNA?
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What are histones and their role in chromosome structure?
What are histones and their role in chromosome structure?
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Differentiate between heterochromatin and euchromatin.
Differentiate between heterochromatin and euchromatin.
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What is the mutation rate of mitochondrial DNA compared to nuclear DNA?
What is the mutation rate of mitochondrial DNA compared to nuclear DNA?
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How is mitochondrial DNA inherited?
How is mitochondrial DNA inherited?
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What is the total length of the mitochondrial genome in base pairs?
What is the total length of the mitochondrial genome in base pairs?
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Study Notes
Human Genome Organisation
- Human DNA, stretched out, measures approximately 6 feet (1.8 meters)
The Human Genome
- The nuclear genome is 3.2 Gb
- The mitochondrial genome is 16.5 Kb
- 25% of the genome is genes and related DNA
- 75% of the genome is extragenic DNA
- 10% of the genome is coding and regulatory DNA
- 90% of the genome is non-coding DNA
- 60% of the genome is unique low copy number DNA
- 40% of the genome is repetitive DNA
- The exome comprises 2% of the genome
- Functional RNAs present in the genome include rRNAs, tRNAs, small nuclear RNAs, small nucleolar RNAs and microRNAs
The Mitochondrial Genome
- A single double stranded (ds) circular chromosome
- Contains 2-10 copies per mitochondrion
- Contains 16,569 bp
- Contains 37 genes; 13 code for oxidative phosphorylation enzymes; 2 code for mt rRNAs and 22 code for mt tRNAs
mtDNA vs Nuclear DNA
- mtDNA is circular, nuclear DNA is linear
- mtDNA has no introns, nuclear DNA has introns
- mtDNA has small intergenic spaces (1-2bp), nuclear DNA has large intergenic spaces (Kb)
- mtDNA codon usage differs from nuclear DNA’s
- mtDNA is maternally inherited, nuclear DNA is inherited from both parents
- mtDNA replicates rapidly, nuclear DNA replicates more slowly
- mtDNA has no proof-reading or DNA repair, nuclear DNA does
- mtDNA mutation rate is high (10-100x) compared to nuclear DNA
Chromosomes: Structure
- Chromosomes are composed of DNA, which is organized into nucleosomes
- A chromosome during duplication includes DNA synthesis
- A chromosome has two sister chromatids that are joined at the centromere
- The chromatids separate at the centromere
- A chromosome has telomeres which are located at the chromosomal tips
Chromosomes: Organisation
- Chromosomes have loops of chromatin
- Nucleosomes are 10nm in diameter
- A 30nm chromatin fiber is made from folded nucleosomes.
- DNA is organized into a double helix
- The diameter of a double helix is 2nm
Histones
- Histones are small (10-20 kDa)
- Histones are highly conserved
- Histones are very basic proteins
- Histones are heavily acetylated/methylated
- Eight (8) histones form a core around which DNA is wrapped
- Histones are attached to linker DNA.
- Histones do not dissociate from DNA during DNA replication.
Heterochromatin & Euchromatin
- Euchromatin is the fraction of DNA that is transcriptionally active and adopts a relatively extended conformation.
- Heterochromatin is a chromosomal region that remains condensed throughout the cell cycle and shows litle or no active gene expression
- Heterochromatin is either constitutive (always inactive) e.g., the centromere, or facultative (can be condensed or dispersed) - e.g., the mammalian X-chromosome
- Histone modifications, in chromatin, affect gene expression
The Centromere
- The centromere is the chromosomal constriction where sister chromatids are joined
- The centromere is essential for chromosome attachment to the spindle and segregation
- The centromere contains highly repetitive specific DNA sequences
The Telomere
- Telomeres are the tips of chromosomes
- They are composed of repetitive DNA sequences
- Essential for maintaining the integrity of chromosomes
- Telomeres are linked to ageing
- Telomerase is needed to prevent loss of telomeres during DNA replication
Nucleotides
- There are two purines: Adenine (A) and Guanine (G)
- There are two pyrimidines: Cytosine (C), and Thymine (T)
- Uracil (U) replaces Thymine (T) in RNA
Different Sugars in DNA and RNA
- DNA has 2-deoxyribose, RNA has ribose
- The sugar differs by the presence or absence of a hydroxyl group
DNA – RNA – Protein Synthesis
- Transcription generates RNA from DNA
- RNA splicing removes introns from RNA
- Translation synthesizes proteins from RNA
Genes in the human genome
- The human genome contains approximately 21,306 protein-coding genes
- In addition to protein-coding genes, the human genome codes for functional RNAs (e.g., rRNA, tRNA, snRNA, snoRNA, miRNA)
Gene Structure
- Genes comprise a control region and protein coding regions
- The control region contains binding sites for transcription factors
- Protein coding regions have universal and basal transcription factors , a promoter, and a transcription initiation site, as well as stop signals.
Sense and antisense DNA strands
- The sense strand is the coding strand; its sequence determines the protein sequence
- The antisense strand serves as the template for mRNA production
- The sequence is the same as the mRNA except for T being replaced by U.
- Strands are always read 5'→3'
Non-coding RNA
- Non-coding RNA is RNA that does not encode proteins
- Positional classification of ncRNA includes intergenic, intronic, and exonic ncRNA
Repetitive DNA
- Repetitive DNA sequences exist as tandem repeats or short simple repeats (SSRs).
- Examples of repetitive DNA include satellites, minisatellites, and microsatellites.
How do Tandem Repeats arise?
- Tandem repeats can arise from replication slippage (polymerase stuttering).
Mobile Genetic Elements
- Mobile genetic elements include transposons (jumping genes), which can move around the genome, often flanked by short, inverted repeats sequences.
- Retrotransposons are a type of transposon which move via an RNA intermediate.
- Transposable elements (TEs) can give rise to repetitive genomic DNA, including pseudogenes.
Pseudogenes
- Pseudogenes are non-functional copies of protein-coding genes arising through reverse transcription of mRNAs.
- Pseudogenes may have arisen through gene duplication.
- Pseudogenes can have serious implications for genetic diagnostics.
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Description
Test your knowledge on key concepts of DNA and RNA, including the roles of various strands and sequences in mRNA production. This quiz also covers structural differences between mitochondrial and nuclear DNA, as well as the functions of histones, centromeres, and telomeres. Explore the fascinating world of genetics with questions on transposons, repeat sequences, and functional RNAs.