Regulation of Gene Expression
Regulation of Gene Expression
Explanation of Differential Gene Expression
Core Idea: Two cells with the same genome can look and act differently due to variations in gene transcription.
Different genes are actively transcribed in different cells, leading to the production of varied sets of proteins.
Concept: This process is known as Differential Gene Expression.
Overview of Gene Regulation
Nature of Gene Regulation:
It is a tightly controlled and complex process involving:
Different genes being transcribed to produce different RNA.
Different proteins being produced as a result of these transcripts.
Student Learning Objectives (SLOs)
Predict the effect of chromatin remodeling on transcription.
Predict the effect of DNA methylation on transcription.
Contrast the roles of activator and repressor proteins in transcription and identify the DNA regions to which these proteins bind.
Chromatin Remodeling
Concept: Chromatin can exist in two states:
Packed (Condensed): Inactive genes.
Loose (Decondensed): Active genes.
Mechanism: Proteins add chemical tags to histone groups:
These tags relax the DNA, promoting decondensation.
Removal of these tags leads to DNA packing.
DNA Methylation
Definition: This process refers to the addition of chemical tags (specifically, methyl groups) to regions of DNA, particularly in GC-rich areas.
Function: Methylation can prevent transcription of a nearby gene, effectively turning it “off”.
It is an example of an epigenetic alteration that affects gene activation without changing the base sequence of the gene.
Transcription Activation
Process Overview:
Transcription activation requires more than RNA polymerase simply binding to the promoter region.
Promoter Binding: RNA polymerase recognizes and binds to the TATA box within the promoter, establishing basic machinery but not initiating transcription.
Role of Regulatory Proteins:
Regulatory Transcription Factors: Interact with RNA polymerase, including:
General transcription factors: Multiple factors that associate with RNA polymerase at the core machinery.
Activator Proteins: Bind to enhancer regions (which can be located adjacent or far from the promoter) to activate transcription.
Repressor Proteins: Bind to silencer regions to inhibit transcription.
Characteristics of Transcription Factors
Functionality:
Transcription factors recognize specific sequences within DNA and bind directly to these sequences.
Example of Gene Regulation: Kitl Gene
Function: The Kitl gene influences melanin production in a biological context.
Enhancer Binding: Activator proteins can bind to the enhancer region associated with the Kitl gene.
Data on Kitl mRNA Levels:
Depicted as a graph relative to control levels:
Y-axis: Kitl mRNA levels (normalized)
Control: Baseline levels compared to variations associated with different enhancer conditions labeled as “Blond” and “Dark”.
Control of Protein Production
SLO: Describe the role of microRNAs in mRNA stability and translation regulation.
RNA Interference (siRNA) & microRNAs (miRNA)
Overview:
Small RNA strands (siRNA and miRNA) bind to target mRNAs within a protein complex known as RISC (RNA-Induced Silencing Complex).
Implications:
Result in mRNA degradation
Block the translation of the mRNA, effectively preventing it from producing proteins.
Mutations
SLO: Identify various types of point mutations and predict their consequences.
Point Mutations
Definition: Change in the base sequence of DNA.
Most commonly arise from unrepaired errors during DNA replication before cell division.
Can also occur during DNA repair processes in response to mutagens.
The impact of mutations depends on their location within a gene.
Types of Point Mutations
Silent Mutation:
Definition: A change in the nucleotide sequence that does not alter the amino acid specified by a codon.
Example:
Original Sequence: TAT TGG CTA GTA CAT (encoding Tyr-Trp-Leu-Val-His)
Mutated Sequence (silent): TAC TGG CTA GTA CAT (still encoding Tyr-Trp-Leu-Val-His)
Consequence: Results in no change in phenotype; neutral concerning fitness.
Missense Mutation:
Definition: Change in nucleotide sequence that alters the amino acid specified by the codon.
Example:
Original Sequence: TAT TGG CTA GTA CAT (encoding Tyr-Trp-Leu-Val-His)
Mutated Sequence: TAT TGT CTA GTA CAT (encoding Tyr-Cys-Leu-Val-His)
Consequence: Can lead to a change in the protein’s primary structure, which may be beneficial, neutral, or deleterious.
Nonsense Mutation:
Definition: Change in the nucleotide sequence that produces an early stop codon.
Example:
Original Sequence: TAT TGG CTA GTA CAT (encoding Tyr-Trp-Leu-Val-His)
Mutated Sequence: TAT TGA CTA GTA CAT (leading to stop codon)
Consequence: Typically leads to truncated polypeptide synthesis; usually deleterious.
Frameshift Mutation:
Definition: Involves the addition or deletion of a nucleotide, altering the reading frame.
Example:
Original Sequence: TAT TGG CTA GTA CAT (encoding Tyr-Trp-Leu-Val-His)
Mutated Sequence: TAT TCG GCT AGT ACAT (shifted reading frame)
Consequence: Alters the meaning of all subsequent codons; almost always deleterious.