Genes contain specific sequences of nucleotides in DNA.
Traits are determined by protein synthesis, directed by DNA.
Gene expression involves transcription (DNA to RNA) and translation (RNA to protein).
In 1902, Archibald Garrod proposed that genes influence phenotypes through enzymes.
RNA serves as a bridge between DNA and protein synthesis.
Differences from DNA: RNA has ribose sugar and uracil (U) instead of thymine (T), and is usually single-stranded.
Transcription: synthesis of RNA using DNA information, producing mRNA.
Translation: synthesis of polypeptides utilizing mRNA.
Ribosomes are the sites of translation.
In bacteria, translation starts before transcription ends; in eukaryotes, transcription occurs in the nucleus, and processing is required for mRNA before translation.
Central Dogma: DNA → RNA → Protein.
Information flow involves a triplet code - sequences of three nucleotides (codons) that correspond to amino acids.
Codons are non-overlapping, and the mRNA sequence is complementary to DNA.
Template strand: one DNA strand is used as a template for RNA transcription.
mRNA is transcribed in the 5' to 3' direction.
Codons on mRNA are read in the 5' to 3' direction; each codon designates a specific amino acid, linking to protein formation.
64 codons identified including 61 that code for amino acids; 3 act as stop signals.
Redundancy: multiple codons can code for one amino acid; specificity: each codon corresponds to only one amino acid.
Eukaryotic RNA undergoes processing, including 5' capping, polyadenylation, and splicing to remove introns and join exons.
Spliceosomes facilitate splicing by removing introns.
Each tRNA has an amino acid and an anticodon that pairs with mRNA codons, ensuring correct amino acid incorporation.
The structure of tRNA resembles a cloverleaf shape in 2D and L-shaped in 3D.
Ribosomes consist of rRNA and proteins, facilitating the interaction between tRNA and mRNA.
There are three sites on the ribosome: A (aminoacyl), P (peptidyl), and E (exit).
Initiation: Assembly of mRNA, initiator tRNA, and ribosomal subunits at the start codon.
Elongation: Addition of amino acids to the growing polypeptide chain.
Termination: Occurs when a stop codon is reached, releasing the polypeptide.
Point mutations: changes in a single nucleotide pair.
Silent mutations: no effect on protein function.
Missense mutations: alter one amino acid in a sequence.
Nonsense mutations: create a premature stop codon.
Insertions and deletions can cause frameshift mutations, altering the reading frame of genetic code.
Some mutations can confer advantages in specific environments.
Example: Sickle cell allele provides resistance to malaria in heterozygous individuals.
Errors in mitosis or meiosis can lead to changes in chromosome number and structure.
Nondisjunction results in aneuploidy, leading to conditions such as Turner’s Syndrome or Down Syndrome.
Includes horizontal gene transfer in prokaryotes via transformation, transduction, and conjugation.
Viral recombination is common in RNA viruses like HIV, promoting genetic diversity