IB Biology HL Topic 4 — Genetics, Inheritance & Change Paper 1 & 2 Core idea ~11 min read

Environment & Gene Expression

Here is the idea that surprises most students: your surroundings can change which of your genes are read, without changing a single letter of your DNA. Chemical tags get added on top of the code, and they decide what the cell is allowed to see. That is epigenetics.

📚 What you need to know

Epigenesis: how one cell becomes many kinds of cell

You started as a single zygote. Every cell in your body came from that one cell by mitosis, so they all carry the same genome. And yet you ended up with muscle, bone, blood and brain.

Epigenesis is the name for that whole process of differentiation patterns appearing as the organism develops. What drives it is not different DNA in different cells but different patterns of gene expression in different cells.

Epigenetics: changing how the code is read

Epigenetics is genetic control by something other than the base sequence itself. The changes are heritable — they get passed to daughter cells — but the DNA sequence is left completely alone.

Think of the DNA as a book and the epigenetic tags as sticky notes on certain pages saying “skip this one”. The words in the book never change. What changes is which pages get read.

The line examiners want to see same genotype + different epigenetic tags = different phenotype
This is the cleanest way to separate epigenetics from mutation. A mutation changes the code itself. An epigenetic change only changes how the code is read. Both alter the characteristics you end up with.

Chromatin: DNA plus histones

Nuclear DNA does not float around loose. It is wound around proteins called histones, and the DNA-plus-histone package is called chromatin. That packaging matters, because how tightly the DNA is wound decides whether transcription factors and RNA polymerase can physically reach a gene.

So the cell has two places to add a tag: on the DNA itself, or on the histones it is wrapped around. Both are used.

Genome, transcriptome and proteome

Three words that sound similar and mean quite different things. The proteome is every protein a cell makes, and it is ultimately determined by the genome — but not every gene is switched on, so the proteome is only a selection from what the genome offers.

The transcriptome sits in between: it is the full range of mRNA transcripts present in a particular cell or tissue. Since mRNA is what gets translated, the transcriptome decides which proteins appear.

Genome, transcriptome, proteome Three different questions about the same cell. Every cell holds the same genome but reads a different part of it GENOME TRANSCRIPTOME PROTEOME transcription translationall the DNA all the mRNA all the proteinsSame genome, different transcriptome, different proteome. The pattern of gene expression is what makes a cell type.
Ask yourself which of the three a question is really about — the wrong one will cost you the mark even if the biology is right.
TermWhat it includesSame in every body cell?
GenomeAll of the DNA, coding and non-codingYes
TranscriptomeAll the mRNA transcripts in that cell or tissueNo, it varies
ProteomeAll the proteins synthesised in that cellNo, it varies

Epigenetic tags: methylation

Methylation of DNA

Methylation means adding a methyl (–CH3) group. On DNA it is usually added to cytosine bases in the promoter region of a gene.

Now follow the chain. The methyl groups sit right where transcription factors need to bind. Their binding is inhibited, so RNA polymerase cannot be recruited, so transcription is suppressed. The cell uses this to lock a gene firmly in the off position. And crucially, how much methylation occurs can be affected by environment, lifestyle and age.

NO METHYL TAGS METHYL TAGS ADDED promoter gene promoter geneRNA polymerase can bind polymerase cannot bindgene is switched ON gene is switched OFFprotein is made no protein is madeA methyl tag on the promoter locks the gene off. The base sequence of the gene is unchanged.
The tags sit on the control region, not on the gene. That is why the genotype is unaffected while the phenotype changes.

Methylation of histones

The tails of histone proteins can be chemically modified too. Methyl groups added to the amino acids of a histone can either activate or deactivate a gene, by making the DNA more or less accessible to transcription factors.

Do not over-generalise. Methylation of DNA at a promoter switches a gene off. Methylation of histones can go either way depending on where it lands. If a question is about histones, keep your answer to “more or less accessible”.

Epigenetic inheritance

Epigenetic tags are copied along with the DNA. If they stay in place through cell division, they get passed on.

Through mitosis, the daughter cells end up with the same tags as the parent cell — which is exactly why a liver cell divides to make more liver cells rather than something random. Through meiosis, gametes can carry tags, which are then passed to the offspring that develop after fertilisation. That is epigenetic inheritance: a phenotypic change inherited with no change at all to the base sequence.

The reverse is just as important. If the tags are stripped off during mitosis or meiosis, epigenetic inheritance cannot happen. Evidence is building that changes to the epigenome in one generation can be passed on at cell level and at whole-organism level.

Worked examples

WORKED EXAMPLE

Distinguish between a mutation and an epigenetic change. [2]

Point 1 — the mutation A mutation changes the genetic code itself, for example by altering the nucleotide sequence of a gene. Point 2 — the epigenetic change An epigenetic change leaves the sequence intact and instead alters how the code is read, by adding tags such as methyl groups. 2 marks Both change the characteristics expressed — the difference is whether the DNA sequence itself is altered.
WORKED EXAMPLE

Explain how methylation of the promoter region reduces the expression of a gene. [3]

Step 1 — what is added and where Methyl groups are added to cytosine bases in the promoter region of the gene. Step 2 — the immediate effect This inhibits the binding of transcription factors, so RNA polymerase cannot attach to the promoter. Step 3 — the outcome Transcription is suppressed, so less mRNA and therefore less protein is produced — the gene is effectively locked off. 3 marks Adding “the base sequence is unchanged” often picks up a further mark on longer questions.

💡 Exam tip

⚠ Common mix-up

Up next: Environment & Gene Expression: Examples — air pollution, imprinting in ligers and tigons, twin studies and the lac operon, all of it built on what you have just learned.

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