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What did Garrod’s 1902 experiment show?
Genes are linked to enzymes and metabolic diseases
What disease did Garrod study?
Alkaptonuria (black urine disease)
What did Garrod propose about affected patients?
They lacked a specific enzyme
What did Beadle and Tatum discover?
Each gene codes for a specific enzyme
What is the modern version of their hypothesis?
One gene → one polypeptide (protein)
How does DNA determine phenotype?
DNA → protein → protein function produces traits
What is gene expression?
The process by which DNA directs protein synthesis
What are the two stages of gene expression?
Transcription and translation
What is transcription?
DNA → mRNA
What is translation?
mRNA → protein
Where does transcription occur (eukaryotes)?
Nucleus
Where does translation occur?
Cytoplasm (ribosomes)
What is a codon?
A 3-nucleotide sequence that codes for one amino acid
Why are codons needed?
Because 4 nucleotides must code for 20 amino acids
How many nucleotides are in one codon?
3
What strand is used in transcription?
The template DNA strand
In what direction is mRNA built?
5’ → 3’
What replaces thymine (T) in RNA?
Uracil (U)
What enzyme performs transcription?
RNA polymerase
What does RNA polymerase do?
Unwinds DNA and builds mRNA
What happens in transcription initiation?
RNA polymerase binds promoter and unwinds DNA
What happens in transcription elongation?
RNA strand is extended as polymerase moves along DNA
What happens in transcription termination?
mRNA is released and polymerase detaches
What is RNA splicing?
Removal of introns and joining of exons
What are introns?
Non-coding regions removed from RNA
What are exons?
Coding regions kept in RNA
What is the role of tRNA?
Brings amino acids to the ribosome
What is an anticodon?
A tRNA sequence complementary to an mRNA codon
What is a ribosome made of?
rRNA and proteins
What are the 3 ribosome sites?
A site, P site, E site
What happens at the A site?
Incoming tRNA brings next amino acid
What happens at the P site?
Holds growing polypeptide chain
What happens at the E site?
Empty tRNA exits
What is the start codon?
AUG (codes for methionine)
What are stop codons?
UAA, UAG, UGA
What happens in translation initiation?
Ribosome assembles at start codon with first tRNA
What happens in translation elongation?
Amino acids are added and peptide bonds form
What happens in translation termination?
Stop codon reached → protein released
What are polyribosomes?
Multiple ribosomes translating one mRNA at once
What does “coupled transcription and translation” mean?
Both happen at the same time in prokaryotes
What do free ribosomes produce?
Proteins that function in the cytoplasm
What do rough ER ribosomes produce?
Secreted or membrane proteins
What is a mutation?
A change in DNA sequence
How do mutations affect phenotype?
They can change protein structure/function
What is a point (missense) mutation?
One base is substituted for another
What is a nonsense mutation?
Mutation creates a stop codon
What is a frameshift mutation
Insertion/deletion shifts reading frame
Why can frameshift mutations be severe?
They change all downstream amino acids
Why are mutations important evolutionarily?
They create genetic variation