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What are mutations in DNA replication?
Errors where the sequences of nucleotides change, leading to problems in gene expression.
How are mutations categorized by length?
Mutations are categorized as gene-level mutations affecting short stretches of nucleotides and chromosomal mutations affecting longer stretches of DNA.
What are gene-level mutations?
Mutations that affect specific genes, including base substitutions, insertions, deletions, and frameshift mutations.
What are chromosomal mutations?
Mutations that alter longer stretches of DNA, potentially affecting multiple genes or entire chromosomes.
What are the three subcategories of base substitution mutations?
Missense mutations, nonsense mutations, and silent mutations.
What is a missense mutation?
A mutation where the altered codon leads to the insertion of an incorrect amino acid into a protein.
What is a nonsense mutation?
A mutation where the altered codon prematurely terminates protein synthesis, resulting in a shorter, non-functional protein.
What is a silent mutation?
A mutation where the altered codon codes for the same amino acid as the unaltered codon, resulting in no change to the protein.
What is an insertion mutation?
A mutation that occurs when an extra nucleotide is added to the DNA strand during replication.
What is a deletion mutation?
A mutation that occurs when a nucleotide is omitted from the replicated strand due to strand slippage.
What is a frameshift mutation?
A mutation resulting from the insertion or deletion of nucleotides that alters the reading frame of the mRNA.
How does a frameshift mutation affect protein synthesis?
It completely alters the amino acid sequence of a protein, as the ribosome reads the mRNA in terms of codons.
What analogy is used to explain frameshift mutations?
Words as codons and letters within those words as nucleotides.
What happens to the reading frame if the number of inserted or deleted bases is not a multiple of three?
The reading frame is completely changed, leading to a different sequence of amino acids.
What is the impact of gene-level mutations on an organism?
They can affect any number of an organism's physical characteristics.
What are the consequences of chromosomal mutations?
They typically have serious consequences that affect entire organisms.
What can cause an insertion mutation during DNA replication?
When the replicating strand 'slips' or wrinkles, allowing an extra nucleotide to be incorporated.
What can cause a deletion mutation during DNA replication?
When a wrinkle forms on the DNA template strand, causing a nucleotide to be omitted.
What is the significance of codons in protein synthesis?
Codons represent groups of three nucleotides that correspond to specific amino acids.
How can a single nucleotide change impact protein production?
It can lead to significant changes in the protein's structure and function.
What is the role of ribosomes in translation?
Ribosomes read the mRNA sequence in terms of codons to synthesize proteins.
What is the effect of a frameshift mutation on the polypeptide chain?
It can result in the production of an entirely different sequence of amino acids.
Why are gene-level mutations more common than chromosomal mutations?
Gene-level mutations affect shorter stretches of DNA, making them more likely to occur.
What is a frameshift mutation and its effect on protein synthesis?
A frameshift mutation changes the relationship of all nucleotides to each codon, altering every codon in the sequence, leading to a widespread change in the amino acid sequence of the protein.
What happens to the protein when a nucleotide is deleted in a frameshift mutation?
The mutant protein becomes entirely different and shorter due to the appearance of a premature stop codon, rendering it unable to perform its necessary function.
What is the role of DNA proofreading and repair enzymes?
These enzymes detect and repair mutations in DNA, but some mutations can become permanent parts of a cell's genetic material.
How can mutations in gametes affect future generations?
Mutations in gametes can be passed to offspring, potentially leading to many members of a population inheriting the mutation across generations.
What are silent mutations?
Silent mutations are changes in the DNA that occur in non-coding areas and have no consequence on the organism.
How can mutations contribute to the evolution of a species?
Mild mutations can contribute variation to a species, allowing them to adapt to changing environments.
What are the potential effects of large mutations?
Large mutations can be beneficial, such as improving camouflage, or harmful, potentially causing serious developmental problems or death before reproductive maturity.
What is gene expression?
Gene expression is the process by which a gene provides instructions for producing a functional product, typically a protein.
What are the two major steps involved in protein synthesis?
The two major steps are transcription and translation.
How does DNA determine an organism's characteristics?
The sequence of nucleotides in DNA influences the characteristics of an organism by coding for proteins that perform various functions.
What is the significance of Mendel's flower color gene?
Mendel's flower color gene provides instructions for a protein that produces pigments, determining the color of the flowers.
What occurs during transcription in protein synthesis?
During transcription, the DNA sequence of a gene is copied into mRNA.
What occurs during translation in protein synthesis?
During translation, the mRNA sequence is used to assemble amino acids into a polypeptide chain, forming a protein.
What is the consequence of accumulated mutations in DNA?
Accumulated mutations can lead to uncontrolled cell division and cancer, as cells ignore normal stop signals.
In what way can mutations be preserved in future offspring?
Mutations can be preserved in future offspring when they occur in gametes, leading to their inheritance.
What is the potential impact of harmful mutations on an organism?
Harmful mutations can lead to serious developmental issues or death before the organism reaches reproductive maturity.
What is the relationship between DNA and proteins?
DNA contains the instructions for synthesizing proteins, which are essential for various cellular functions.
What is the effect of a premature stop codon on protein synthesis?
A premature stop codon results in an incomplete protein that is often nonfunctional.
How do mutations contribute to genetic diversity in a population?
Mutations introduce variations in the genetic material, which can be beneficial for adaptation and evolution.
What is the role of repair enzymes in DNA?
Repair enzymes detect and correct errors in DNA to maintain genetic integrity.
What is the significance of the fourth nucleotide deletion in the context of frameshift mutations?
The deletion of the fourth nucleotide alters the reading frame of the mRNA, leading to a completely different amino acid sequence.
How does the structure of DNA relate to its function in coding for proteins?
The specific sequence of nucleotides in DNA encodes the information necessary for the synthesis of proteins, determining the organism's traits.
What occurs during transcription?
The DNA sequence of a gene is copied to make an RNA molecule.
What is the role of RNA polymerase in transcription?
RNA polymerase transcribes the template strand of DNA to produce mRNA.
What is the difference between the coding strand and the template strand in DNA?
The coding strand has the same sequence as the mRNA (with Ts replaced by Us), while the template strand is used to synthesize the complementary RNA strand.
What must happen to mRNA in eukaryotes before it can be translated?
It must undergo processing to become mature mRNA.
What is the process of translation?
The sequence of the mRNA is decoded to specify the amino acid sequence of a polypeptide.
What is a codon?
A triplet of three sequential mRNA bases that specifies an amino acid.
How many different amino acids are used to build proteins?
20 different amino acids.
What is the significance of the codon AUG?
It specifies the amino acid methionine and signals the start of translation.
What is the genetic code?
A set of rules that links nucleotide sequences to amino acid sequences in proteins.
What is the relationship between nucleotides and amino acids in the genetic code?
There is a 3:1 relationship, where three nucleotides (a codon) specify one amino acid.
Why is the genetic code considered universal?
It is used by most organisms, indicating a common evolutionary ancestor.
Where does translation take place?
Inside structures known as ribosomes.
What happens to the DNA during transcription?
The DNA opens up to form a bubble, allowing one strand to serve as a template for RNA synthesis.
What biochemical difference exists between DNA and RNA during transcription?
The thymine (T) in DNA is replaced with uracil (U) in RNA.
What is the purpose of mRNA in protein synthesis?
It acts as a blueprint for the protein, guiding the sequence of amino acids.
What is the first step in protein synthesis?
Transcription.
What is the second step in protein synthesis?
Translation.
What is the function of the non-coding strand of DNA during transcription?
It acts as a template for the synthesis of a complementary RNA strand.
What is the significance of determining which amino acid is specified by each codon?
It was a major discovery in biology that helped to understand how proteins are built.
How does the genetic code support the theory of evolution?
The universal nature of the genetic code suggests that all life-forms evolved from a common ancestor.
What is the relationship between transcription and translation?
Transcription produces mRNA from DNA, which is then translated into a polypeptide.
What are ribosomes made of?
Ribosomal RNA (rRNA).
What is the role of ribosomes in protein synthesis?
Ribosomes build polypeptides by reading mRNA.
What is the first step in translation?
The mRNA moves out of the nucleus and into the cytoplasm.
What initiates the translation process?
A ribosome attaches to the mRNA and finds the 'start' codon.
How does a ribosome know which amino acid to add during translation?
It relies on transfer RNAs (tRNAs) that match codons on the mRNA.
What is an anticodon?
A set of three nucleotides on tRNA that pairs with a codon on mRNA.
What does each tRNA carry?
An amino acid that corresponds to its anticodon.
What happens when a tRNA binds to its matching codon?
The amino acid it carries is added to the growing polypeptide chain.
What type of bond links amino acids together during translation?
A peptide bond.
What signals the end of translation?
The ribosome reaches a stop codon.
What occurs after the ribosome releases the mRNA?
The chain of amino acids folds into its final protein shape.
What is a gene?
A segment of DNA that codes for a specific protein.
How many genes do humans have?
Approximately 20,000-25,000 genes.
What role do proteins play in the body?
They carry out biochemical and structural activities essential for life.
What is an example of a protein that helps with digestion?
Enzymes in the stomach.
What is insulin?
A hormone that helps control blood sugar levels.
What is the primary function of hemoglobin?
To transport oxygen in the body.
What is the first step in expressing the information in DNA?
Transcribing the instructions into mRNA.
What is the significance of proteins in specialized cells?
They conduct specialized activities based on the genes expressed.
What is the role of RNA in gene expression?
RNA carries the genetic instructions from DNA to the ribosomes for protein synthesis.
What is the purpose of ribonucleic acid (RNA) in relation to DNA?
RNA can exit the nucleus to carry information from DNA to the cytoplasm for protein synthesis.
What is a major structural difference between DNA and RNA?
RNA contains ribose sugar instead of deoxyribose sugar, making RNA single-stranded while DNA forms a double helix.
Which base found in DNA is replaced by uracil in RNA?
Thymine (T) is replaced by uracil (U) in RNA.
What are the three types of RNA and their primary functions?
Messenger RNA (mRNA) carries information from DNA to the cytoplasm; transfer RNA (tRNA) helps assemble proteins; ribosomal RNA (rRNA) is a component of ribosomes.
What is the process of creating RNA from a DNA template called?
Transcription.
How does transcription relate to DNA replication?
Transcription is similar to DNA replication, as it involves creating a new RNA strand that is complementary to the DNA template.
What is the role of mRNA during gene expression?
mRNA directs the synthesis of a protein through the process called translation.
What determines the order of amino acids in a protein?
The order of amino acids is determined by the nucleotide sequence of the gene in DNA.
What is the Central Dogma of molecular biology?
The Central Dogma describes the process of DNA being transcribed into RNA, which is then translated into proteins.
How is genetic information passed from parents to offspring?
Genetic information is transmitted accurately through DNA during cell division, preserving species characteristics.
How many chromosomes do humans have in each cell (excluding gametes and red blood cells)?
Humans have 46 chromosomes, organized into 23 pairs.
What is the average number of nitrogen bases in a human chromosome?
An average chromosome contains about 145 million nitrogen bases.
What is the significance of DNA in the function of cells?
DNA contains critical information for the structure and function of cells, and is essential for the accurate formation of new cells.
What happens to proteins based on the order of amino acids?
Proteins fold into specific shapes based on the order of amino acids, which is crucial for their proper function.