IB Biology · Theme D · D2.2 · HL only

Genes,
switching
on and off.

Every cell has the same DNA. What makes a liver cell different is which genes it switches on. Welcome to gene expression.

11Sub-topics
30Key terms
HL onlyLevel
CellsLevel of organisation
D2.2
Why this topic

What this topic answers.

Every sub-topic below feeds at least one of these questions.

Guiding question 1

How is gene expression changed in a cell?

Guiding question 2

How can patterns of gene expression be conserved through inheritance?

HL extension

Higher Level only.

An extra 11 sub-topics for HL — same syllabus, deeper mechanism.

HL only

Gene expression as the mechanism by which information in genes has effects on the phenotype

Gene expression as the mechanism by which information in genes has effects on the phenotype

HL only

Regulation of transcription by proteins that bind to specific base sequences in DNA

Regulation of transcription by proteins that bind to specific base sequences in DNA

HL only

Control of the degradation of mRNA as a means of regulating translation

Control of the degradation of mRNA as a means of regulating translation

HL only

Epigenesis as the development of patterns of differentiation in the cells of a multicellular organism

Epigenesis as the development of patterns of differentiation in the cells of a multicellular organism

HL only

Differences between the genome, transcriptome and proteome of individual cells

Differences between the genome, transcriptome and proteome of individual cells

HL only

Methylation of the promoter and histones in nucleosomes as examples of epigenetic tags

Methylation of the promoter and histones in nucleosomes as examples of epigenetic tags

HL only

Epigenetic inheritance through heritable changes to gene expression

Epigenetic inheritance through heritable changes to gene expression

HL only

Examples of environmental effects on gene expression in cells and organisms

Examples of environmental effects on gene expression in cells and organisms

HL only

Consequences of removal of most but not all epigenetic tags from the ovum and sperm

Consequences of removal of most but not all epigenetic tags from the ovum and sperm

HL only

Monozygotic twin studies

Monozygotic twin studies

HL only

External factors impacting the pattern of gene expression

External factors impacting the pattern of gene expression

D2.2.1 · Gene expression

How DNA shapes phenotype.

Gene expression turns information in a gene into a functional product — usually a protein — that affects the organism's phenotype.

The steps: gene → mRNA (transcription) → protein (translation) → cellular function → contribution to phenotype. Genotype (the alleles carried) + environment determine which proteins are made and in what quantities, and that shapes the observable phenotype.

D2.2.2 · Regulation of transcription

Proteins that decide which genes are read.

Three regulatory features control transcription: promoters, enhancers, and transcription factors.

Promoter

Near the gene start

The binding site for RNA polymerase. Required for transcription to begin.

Enhancer

Often distant

Regulatory sequences that can be far from the gene. Loop around to interact with the promoter, boosting (or sometimes inhibiting) transcription.

Transcription factors

Regulatory proteins

Bind promoters and enhancers. Activate or repress transcription, often in response to cellular signals. The "switches" that make context-dependent gene expression possible.

D2.2.3 · mRNA degradation

How long an mRNA lasts regulates translation.

After transcription, mRNA persists for a limited time before being broken down by nuclease enzymes. Controlling mRNA lifetime controls how much protein gets made.

In human cells, mRNA half-life ranges from minutes (for transient signals) to days (for housekeeping proteins). Each round of translation off a single mRNA produces another protein molecule; once the mRNA is degraded, translation stops. Adjusting mRNA stability is therefore a powerful way to tune protein levels.

D2.2.4 · Epigenesis & differentiation

Same genome, different cells.

Every cell in your body has the same DNA. The reason a liver cell differs from a neuron is that they express different subsets of that DNA — different gene expression patterns.

Epigenesis is the developmental process by which a single zygote produces a body with hundreds of differentiated cell types. Epigenetic tags — chemical markers added to DNA or histones — direct each cell type's gene expression pattern. The DNA sequence is identical; the patterns of which genes are active or silenced differ.

D2.2.5 · Genome, transcriptome, proteome

Three layers of biological information.

A cell's identity is captured at three levels — what it could be (genome), what it's currently transcribing (transcriptome), and what proteins it currently has (proteome).

Genome

All the DNA

The complete genetic content of a cell. Same in every cell of the body (with minor exceptions like mature B-cells).

Transcriptome

All the RNA

All the RNA molecules currently being transcribed. Differs dramatically between cell types — liver vs neuron transcriptomes overlap only partially.

Proteome

All the proteins

The complete set of proteins present in the cell right now. The final cellular phenotype is the proteome — what the cell can actually do.

D2.2.6 · Methylation

Methyl groups silence genes.

Two main types of epigenetic methylation control gene expression: methylation of promoter DNA, and methylation of histone tails.

  • DNA methylation — methyl groups added to cytosine bases in promoter regions. Typically silences the gene (prevents RNA polymerase from binding).
  • Histone methylation — methyl groups added to histone tails. Can either tighten or loosen nucleosome packaging, depending on which residue is methylated.
D2.2.7 · Epigenetic inheritance

Tags can be passed on.

Epigenetic tags are usually erased during germ cell formation — but not always. Some tags persist across generations, transmitting environmental effects from parent to offspring.

When eggs and sperm form, most epigenetic tags are removed (reprogramming) to give the new individual a "clean slate" of gene regulation. But not all tags are erased — some heritable epigenetic patterns persist. These can transmit certain environmental effects (nutrition, stress, toxin exposure) from one generation to the next without any change in DNA sequence.

D2.2.8 / D2.2.11 · Environmental effects on expression

The environment writes onto the genome.

Diet, stress, toxin exposure, light, temperature — many environmental factors leave epigenetic marks that alter gene expression patterns.

  • Dutch Hunger Winter (1944–45): children whose mothers were starving in early pregnancy showed metabolic and health differences decades later — and so did their children.
  • Honey bees: queen bees and worker bees share the same genome but develop entirely different phenotypes based on diet (royal jelly).
  • Agouti mice: dietary supplementation of pregnant mice affects coat colour and obesity risk in offspring — through DNA methylation differences.
D2.2.9 · Reprogramming and imprinting

Why most tags are erased.

Almost all epigenetic tags are removed from gametes — but a few are retained, producing genomic imprinting.

Reprogramming during gametogenesis erases most epigenetic marks, giving the zygote a "fresh start". A small number of genes retain their parental imprints — they are expressed only from one parent's allele. Mistakes in imprinting cause disorders like Prader-Willi syndrome and Angelman syndrome (both involve chromosome 15 imprinting errors).

D2.2.10 · Monozygotic twin studies

Same DNA, different lives.

Identical twins share the same genome but accumulate different epigenetic patterns through life. Comparing their phenotypes reveals epigenetic vs genetic contributions to traits.

Twin studies show that even identical twins increasingly diverge with age — in DNA methylation patterns, in disease susceptibility, even in physical traits like hair colour at older ages. The genome is fixed; the epigenome accumulates the effects of decades of distinct environments. This is some of the strongest evidence that environment-driven epigenetic change matters for phenotype.

HL-only key terms

GeneGene ExpressionPhenotypeGenotypePromotersEnhancersTranscription FactorsRNA polymeraseNuclease EnzymesEpigenesisEpigeneticsEpigenetic TagsEpigenomeGenomeTranscriptomeProteomeMethyl GroupsMethylationHistone ProteinsNucleosomesReprogrammingGenomic ImprintingMonozygotic TwinsLac OperonOperatorRepressor ProteinsSteroid HormonesHormone-Receptor ComplexAndrogen Response ElementsHistone proteins
Vocabulary

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IB Linking Questions

“What mechanisms are there for inhibition in biological systems?”

“In what ways does the environment stimulate diversification?”