The process by which the information in a gene is used to synthesize a functional gene product, often proteins.
Key Processes
Transcription: The process of synthesizing RNA from a DNA template.
Translation: The process of synthesizing proteins from mRNA.
Steps of Transcription
Initiation:
RNA Polymerase binds to the promoter region of the gene (commonly contains a TATA box).
Transcription factors assist in the assembly of the transcription initiation complex.
Elongation:
RNA Polymerase moves along the DNA template strand, unwinding the DNA and synthesizing RNA in a 5’ to 3’ direction, adding complementary RNA nucleotides.
The nascent RNA strand begins to peel off, allowing the DNA to re-form.
Termination:
RNA Polymerase reaches a termination sequence causing it to detach from DNA, releasing the primary mRNA transcript.
Post-Transcriptional Modifications
5' Capping:
Addition of a 7-methylguanylate cap to the 5' end of the mRNA for stability and recognition by ribosomes.
Poly-A Tail:
Addition of approximately 200 adenine nucleotides to the 3' end to enhance stability and export from the nucleus.
Splicing:
Removal of introns (non-coding regions) and joining exons (coding regions) to form mature mRNA.
Splicing is facilitated by a spliceosome.
Gene Structure
Exons: Coding sequences for proteins.
Introns: Non-coding sequences removed during splicing.
Promoter: Sequence where transcription begins.
Terminator: Sequence signaling the end of transcription.
The coding sequence is not continuous; it alternates between introns and exons.
Translation Overview
The process by which mRNA is decoded to produce a polypeptide chain (protein).
Takes place in ribosomes, utilizing mRNA, rRNA, and tRNA.
Steps of Translation
Initiation:
mRNA binds to the small ribosomal subunit; the start codon (AUG) is recognized by the initiator tRNA.
The large subunit of the ribosome joins to complete the initiation complex.
Elongation:
tRNAs bring amino acids to the ribosome by matching their anticodons with codons on mRNA, forming peptide bonds between adjacent amino acids.
The ribosome moves along the mRNA, continuing the elongation process.
Termination:
Termination occurs when a stop codon (UAA, UAG, UGA) is reached.
Release factors bind to the stop codon, prompting the ribosome to disassemble and release the newly synthesized polypeptide.
Amino Acids
Building blocks of proteins; there are 20 different amino acids.
Each has a central carbon atom, an amino group (NH2), carboxyl group (COOH), and a unique R group.
Amino acids are linked by peptide bonds to form polypeptides.
Protein Structure Levels
Primary Structure: Sequence of amino acids.
Secondary Structure: Local folding into alpha-helices and beta-sheets through hydrogen bonding.
Tertiary Structure: Overall 3D shape of the polypeptide chain resulting from interactions among R groups.
Quaternary Structure: Complex formed from two or more polypeptide subunits.
Regulation of Gene Expression
Only a small percentage of genes are expressed at any time; gene regulation controls when and how genes are expressed.
Regulation can occur at various levels: transcriptional, post-transcriptional, translational, and post-translational.
Mutations and Disease
Changes in DNA can lead to mutations which may be silent, missense, or nonsense mutations.
Mutations can also lead to frameshift mutations due to insertions or deletions.
Prion diseases result from abnormal protein folding and can cause severe neurological conditions.