Phenotypic variation — genetic, environmental, and combined
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explain, with examples, that phenotypic variation is due to genetic factors or environmental factors or a combination of genetic and environmental factors.
What is "phenotypic variation"?
A phenotype is every observable feature of an organism — its height, its blood group, the colour of its flowers, the milk yield of a dairy cow. Variation is the fact that these features differ between individuals. The MS opens §17.1 by asking the candidate to name the three causes of phenotypic variation: genetic factors, environmental factors, and a combination of both. The same phenotype can come from very different combinations of cause and effect, and the mark scheme gives one mark for naming each cause and one mark for a matching example.
The three causes are easiest to see in pairs of identical plants or animals. Two cuttings of the same African violet grow into plants that look identical — until one is grown in shade and the other in sunlight. Two genetically identical mice differ in adult weight if one is fed a restricted diet and the other is fed ad libitum. A monozygotic (identical) twin pair has the same DNA, but if one twin smokes and the other does not, their lung-cancer risk diverges. The phenotype is the interaction of genotype and environment, never one alone.
Cause 1 — genetic factors alone
Some phenotypes are set by the genotype and not visibly affected by the environment. Human ABO blood group is the canonical example: a person is type A, B, AB or O regardless of diet, climate, exercise, or age. The MS credits:
- Genotype / alleles (or the named process that generates them — mutation, crossing over, independent assortment, random fertilisation, random mating) as the cause.
- A matching example — blood group, eye colour, seed shape in Mendel's peas, or the colour pattern of Harmonia axyridis (the Asian ladybird, which the 2024 paper Q1 used as a worked example of discontinuous variation with three colour phenotypes).
A phenotype that is only genetic is the easy case — no environment can change it. The exam's harder questions, however, combine all three causes in a single paragraph and ask the student to allocate each phenotype to its cause.
Cause 2 — environmental factors alone
Some phenotypes look genetic but are entirely environmental. The classic example is the hydrangea Hydrangea macrophylla: a single plant produces blue flowers in acidic soil and pink flowers in alkaline soil, with no change to the plant's DNA. Two Daphnia (water-fleas) cloned from the same mother and raised at different temperatures develop different helmet shapes. A pair of identical human twins raised apart differ in adult weight if their diets differ. The MS credits:
- Environment (or a named environmental factor — climate, temperature, day length, light intensity, soil pH, food availability, disease, selection pressure, water availability) as the cause.
- A matching example — the hydrangea, Daphnia helmet, plant height in shade vs sun, the milk yield of cattle in cool vs tropical climates (the 2024 M/J paper Q4 used this — see Worked Example 1 below).
A phenotype that is only environmental shows identical genotypes producing different phenotypes. The phenotype is fixed by the environment, not the DNA.
Cause 3 — combined genetic and environmental factors
Most phenotypes are neither purely genetic nor purely environmental; they are the product of the two. Height in humans is the canonical example: identical twins have a correlation of ~0.95 (mostly genetic), but a pair of identical twins still differ by a few centimetres, and the height of an entire population changes by several centimetres in a generation when nutrition improves (a Dutch male conscript cohort grew ~15 cm between 1860 and 1980 with no measurable change in gene pool). Milk yield in dairy cattle is the same: a Holstein Friesian cow in a cool climate with abundant feed can out-yield a Holstein Friesian in a hot climate with poor feed by 30 % or more, even though the two cows share ~99 % of their DNA.
The MS credits the combined cause with:
- A statement that both genetic / genotype / alleles and environmental factors affect the phenotype (one mark for the joint cause, plus one mark for an example such as milk yield in cool vs hot climates, height in well-nourished vs malnourished children, the body mass of a mammal in food-rich vs food-poor habitats, or a plant's growth in shade vs sun).
The exam's hardest questions mix all three causes in a single passage and ask the student to label each phenotype in a table. The skill is to read the question carefully and match the cause to the evidence in the question, not to the cause that "sounds right".
Fig 17.1 The three causes of phenotypic variation. The same phenotype is the product of a genotype and an environment; most real phenotypes are the combined cause (centre), with some phenotypes set almost entirely by the genotype (left) or the environment (right).
The most common mark-losing answer on §17.1.1
The MS gives one mark for naming a cause and one mark for an example. A common mark-losing answer is to name three causes without giving three examples (or three examples without three causes). The fix is to write the answer as a list of three pairs: each cause is a noun phrase ("genetic factors / alleles / genotype"), and each example is a concrete trait that the marker recognises ("ABO blood group", "hydrangea flower colour in acid vs alkaline soil", "milk yield in cool vs hot climates"). A purely abstract answer — "genes, environment, both" with no examples — gets one mark, not three.
Naming the three causes of phenotypic variation
Describe the main factors that are the cause of phenotypic variation.
Show full working
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Cause 1: genetic factors. Phenotypic variation can be due to differences in genotype (different alleles, or new allele combinations generated by mutation, crossing over, independent assortment, random mating and random fertilisation — the meiotic sources of variation taught in a2-05 §16.1). Example: human ABO blood group (set by the , and alleles, with no environmental influence).
Mark 1. The MS credits 'genetic / genotype / alleles' as the cause, with a matching example. Blood group is the textbook example because the phenotype is unaffected by diet, climate or age.
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Cause 2: environmental factors. Phenotypic variation can be due to differences in environment, even between individuals with identical genotypes. Example: the flower colour of Hydrangea macrophylla (blue in acidic soil, pink in alkaline soil, with no change to the plant's DNA) — or milk yield in dairy cattle raised in cool vs tropical climates (the heat-tolerant breed in the 2024 M/J Q4 question is the same genotype baseline in a different environment).
Mark 2. The MS credits 'environmental / climate / food availability / disease / soil pH / selection pressure' as the cause, with a matching example. The hydrangea is canonical because the same plant changes phenotype when only the soil pH is changed.
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Cause 3: combined genetic and environmental factors. Most phenotypic variation is the product of both — neither cause alone is sufficient to explain the phenotype. Example: human height (set mostly by the many height-associated genes, but a single generation of better nutrition adds several centimetres to a population's mean — the Dutch conscript example, or a child of migrant parents raised in a better-fed environment than the parents).
Mark 3. The MS credits 'combination / interaction of genes and environment' as the cause, with a matching example. The Dutch-cohort example is the cleanest because the gene pool was essentially unchanged over 1860–1980.
Phenotypic variation is caused by (i) genetic factors (e.g. human ABO blood group, set by the , and alleles regardless of environment), (ii) environmental factors (e.g. hydrangea flower colour, blue in acidic soil and pink in alkaline soil, with no change in DNA), and (iii) a combination of genetic and environmental factors (e.g. human height, set mostly by many height-associated genes but also by nutrition — a single generation of better feeding shifts the population mean).
The MS gives one mark for each cause and one mark for each example. Write the answer as three pairs (cause + example), not as three causes followed by three examples — the pairing is the credit unit.
Your turn — the three causes of variation
- 15 marks
A biology teacher writes on the board:
"All phenotypic variation is caused by genes."
(a) State two errors in this statement.
(b) Rewrite the statement correctly, naming three causes of phenotypic variation and giving one example of each.Stuck? Show hint
(a) Two errors: the word "all" (environmental causes exist) and the implicit claim that the causes are only genetic (combined causes also exist). (b) The three causes are genetic, environmental, and combined; the examples should be specific (ABO blood group, hydrangea flower colour, human height).
Show solution
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Error 1: the word "all". Not all phenotypic variation is caused by genes; some is caused entirely by environment (the hydrangea example, or a plant grown in shade vs sun) and some is caused by the interaction of genes and environment.
Mark 1. The MS credits the 'all' error.
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Error 2: the implicit framing. The statement ignores the combined cause — most phenotypes are not purely genetic or purely environmental but the product of both.
Mark 2. The MS credits the framing error.
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(b) Correct statement: phenotypic variation is caused by (i) genetic factors, (ii) environmental factors, and (iii) a combination of both. Examples: (i) ABO blood group in humans; (ii) flower colour in hydrangeas (blue in acidic soil, pink in alkaline soil); (iii) human height (set by many height-associated genes but also by nutrition).
Marks 3, 4 and 5. The MS credits the three causes and their matching examples.
Answer(a) Two errors: "all" (some variation is environmental or combined, not genetic) and the framing (the statement ignores combined genetic-and-environmental causes). (b) Phenotypic variation is caused by genetic factors (e.g. ABO blood group), environmental factors (e.g. hydrangea flower colour in acid vs alkaline soil), and a combination of both (e.g. human height — set by many height genes but also by nutrition).
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- 24 marks
Table 17.1 below lists four phenotypes.
Phenotype Cause 1 Human ABO blood group ? 2 Hydrangea flower colour ? 3 Human height ? 4 Coat colour in identical-twin cats raised in different climates ? Complete the "Cause" column with genetic, environmental or combined, and justify each choice in one sentence.
Stuck? Show hint
1 = genetic (set by / / , no environment can change it). 2 = environmental (the same plant changes colour when only the soil pH changes). 3 = combined (genes + nutrition). 4 = combined (the twins are genetically identical, so any difference is environmental, but the question asks about a phenotype in general, which is set by both).
Show solution
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1. ABO blood group → genetic. The blood group is set by the , and alleles and is unaffected by diet, climate, age, exercise or any other environmental factor.
Mark 1. The MS credits the cause + justification pair.
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2. Hydrangea flower colour → environmental. A single plant produces blue flowers in acidic soil and pink flowers in alkaline soil; the change in phenotype happens with no change in the plant's DNA, so the cause is environmental.
Mark 2. The MS credits the cause + justification pair.
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3. Human height → combined. Height is set by many height-associated genes, but a single generation of better nutrition adds several centimetres to a population's mean (the Dutch conscript example), so the cause is the interaction of both.
Mark 3. The MS credits the cause + justification pair.
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4. Coat colour in identical-twin cats in different climates → combined. The twins are genetically identical, so any difference in phenotype is environmental; the phenotype itself, however, is set by both the cat's genes (which are the same in both twins) and the environment (which differs). The exam-style answer is "combined" because the question is about the phenotype in general, not the difference between the twins.
Mark 4. The MS credits the cause + justification pair.
Answer- Genetic (set by / / , no environmental factor can change it). 2. Environmental (a single plant changes colour with no change in DNA). 3. Combined (set by many height genes, but a single generation of better nutrition shifts the mean — Dutch cohort 1860–1980). 4. Combined (genes are identical in the twins, but the phenotype is set by both the shared genes and the different environments; the answer is "combined" because the question is about the phenotype, not the difference between the twins).
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The rest of this note
Can you do all of these?
State that phenotypic variation is caused by genetic factors, environmental factors, or a combination of both — and give a matching example for each (ABO blood group; hydrangea flower colour; milk yield in cool vs hot climates)
Define discontinuous variation — the data fall into a finite number of distinct categories with no intermediates; the cause is one (or a few) genes
Define continuous variation — the data fall into a smooth range with every intermediate value present; the cause is many genes, each with a small additive effect (polygenic), often modulated by environment
State the genetic basis of discontinuous variation: one (or a few) gene, each allele producing a distinct phenotype
State the genetic basis of continuous variation: many genes (polygenic) with additive effects; the phenotype is the sum of the small effects
State that the t-test compares the means of two samples of continuous data; the formula is provided in the examination
Apply the t-test: identify the two means, two standard deviations and two sample sizes from a table; compute the numerator and the denominator ; divide to get t
State the t-test decision rule: if t > critical value (at the chosen p and ν = n_1 + n_2 - 2 degrees of freedom), the difference is significant and not due to chance; if t ≤ critical value, the difference is not significant
Define natural selection as the differential survival and reproduction of individuals with different phenotypes, due to a selection pressure (e.g. predation, disease, climate, competition)
State the five-step process: (1) variation exists in the population; (2) a selection pressure acts; (3) individuals with the favoured phenotype have a selective advantage and survive / reproduce more; (4) the favoured alleles are passed to offspring; (5) the allele frequency of the favoured phenotype increases in the population over generations
State the struggle for existence: more offspring are produced than can survive; competition for resources (food, mates, space) means only some survive to reproduce
Define directional selection: one extreme phenotype is favoured; the mean of the trait shifts in one direction (e.g. antibiotic resistance, longer-necked giraffes)
Define stabilising selection: the intermediate phenotype is favoured; the mean stays the same but the variance decreases (e.g. human birth weight, clutch size in birds)
Define disruptive selection: both extreme phenotypes are favoured; the mean stays the same but the variance increases (e.g. African seedcrackers with small or large beaks)
Define genetic drift: random changes in allele frequency, especially in small populations; the favoured allele is not necessarily the one that drifts to high frequency
Define the founder effect: a small group of individuals establishes a new population; the new population's gene pool is a biased sample of the original population's gene pool (drift)
Define the bottleneck effect: a population is reduced to a small number of individuals by a catastrophic event; the surviving population's gene pool is a biased sample of the original population's gene pool (drift)
Outline the evolution of antibiotic resistance: random mutation produces a resistance allele; the antibiotic acts as a selection pressure; resistant bacteria survive and reproduce; the resistance allele increases in frequency
Outline horizontal gene transfer: a bacterium can acquire a resistance allele by conjugation (plasmid transfer through a pilus), transformation (uptake of free DNA) or transduction (phage-mediated transfer)
State the Hardy-Weinberg equations: and (provided in the examination)
Apply the Hardy-Weinberg principle in five steps: (1) compute from the count of homozygous recessives; (2) compute ; (3) compute ; (4) compute ; (5) multiply by the population size to get the number of heterozygotes
State the conditions of the Hardy-Weinberg principle: no selection, no mutation, no migration, random mating, large population, diploid, two alleles
Interpret a deviation from Hardy-Weinberg: a difference between the expected and observed numbers indicates that one or more of the conditions is not met (e.g. negative selection against a deleterious allele makes the estimate of too low)
Outline selective breeding (artificial selection): humans select the individuals with the best expression of the desired trait; only the selected individuals are allowed to breed; the offspring inherit the desired alleles; over many generations, the population becomes more uniform in the desired trait
State the named examples: wheat (high yield, short stem, disease resistance), rice (high yield, disease resistance, drought tolerance), maize (high yield, sugar/starch content, disease resistance), cattle (high milk yield, high meat yield, fast growth rate, disease resistance)
State the consequences of selective breeding: reduced genetic variation, increased vulnerability to disease, inbreeding depression, loss of alleles from the gene pool
Define gene pool: the complete set of alleles of all the genes in a population at a given time
Define evolution: a change in allele frequency in a population's gene pool over generations
State the four mechanisms of evolution: natural selection, genetic drift, migration (gene flow), mutation
Distinguish individual vs. population: an individual cannot evolve; a population evolves; the individual's genotype is fixed at fertilisation
Describe how DNA sequence data is used to investigate evolutionary relationships: compare the base sequences of homologous genes; more similar sequences = more closely related; less similar sequences = more distantly related; count the number of base differences as a measure of evolutionary distance
Interpret a phylogenetic tree: closely-related species are placed on branches that join close to the tips; distantly-related species are placed on branches that join close to the base; a node represents a common ancestor of all the species above it
Explain why DNA evidence is more reliable than morphological evidence: DNA is not affected by convergent evolution; DNA is not affected by environmental variation; DNA provides a quantitative measure of evolutionary distance
Define species (biological species concept): a group of organisms that can interbreed to produce fertile offspring
Define allopatric speciation: speciation that occurs when a population is geographically isolated from its parent population; the two sub-populations diverge in allele frequency (different mutations, different selection, different drift) and become reproductively isolated
Define sympatric speciation: speciation that occurs without geographical isolation; the two populations become reproductively isolated by behavioural, temporal, mechanical or hybrid-infertility mechanisms
State the four mechanisms of reproductive isolation: behavioural (different courtship), temporal (different breeding times), mechanical (incompatible reproductive structures), hybrid infertility (offspring are sterile)
Distinguish cause vs. consequence of speciation: the cause is reproductive isolation; the consequence is morphological divergence — a common error is to claim that morphological difference is the criterion for speciation