Claim № 4.02  · Pillar 4 · Case file

“Gene duplication followed by divergence creates genes with new functions.”

Disciplines: Genomics · Biochemistry
Status: draft · pending expert review
UnderExaminationTwo claims · two grades

§1 The claim, as taught

Gene duplication provides raw material for evolution. One copy can continue to perform the original function while the other accumulates mutations and may eventually take on a new function.Representative summary of introductory-text treatments (e.g. Campbell Biology, “Evolution of genomes”; Futuyma & Kirkpatrick Evolution). PLACEHOLDER: to be replaced with exact quotations and page numbers.

§2 The strongest evidence offered

These are the examples most often cited. We present each one fairly and say what it actually shows.

Observed

New genes in real time

In Salmonella, a gene with a weak secondary activity was copied many times under selection. The copies then specialised, one for each function. The process was complete in fewer than 3,000 generations.
Näsvall, Sun, Roth & Andersson, Science 338 (2012)
Inferred

Antifreeze from a digestive enzyme

Antarctic notothenioid fish make antifreeze glycoproteins from a gene built partly from pieces of a trypsinogen (digestive enzyme) gene, plus a short repeat amplified many times. The authors date the conversion to roughly 5–14 million years ago.
Chen, DeVries & Cheng, PNAS 94 (1997)
Inferred

Duplicates are common, and short-lived

Comparing genomes, Lynch and Conery estimated that gene duplicates arise often but that most are silenced within a few million years. Duplication supplies plenty of spare copies; few of them last.
Lynch & Conery, Science 290 (2000)

§3 The grade: two claims hiding in one

The claim as taught combines a modest claim with a sweeping one. Graded separately, they look very different. Hover or tap a rung to see why it got its score. How the grading works →

Duplicated genes can specialise or boost an activity the ancestor already had

BStrongly supported
Observation
///
Observed directly in bacterial populations (Näsvall et al. 2012).
Hypothesis
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Specific and testable: amplification, then specialisation of copies.
Prediction
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The innovation-amplification-divergence model predicted the outcome before the experiment.
Experiment
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Controlled lab evolution with defined starting strains.
Replication
//
Supported by related studies, though few full real-time cases exist.
Falsifiability
//
Alternatives (e.g. contamination, pre-existing variants) can be and were checked.
Method score 15/18

Duplication and divergence explain the origin of new enzymes and folds in general

DExtrapolation
Observation
/
Observed cases start from an existing weak activity; a function the ancestor lacked entirely has not been seen to arise.
Hypothesis
/
Rarely stated as a specific, step-by-step pathway for a given enzyme family.
Prediction
/
Gene families are explained after the fact rather than predicted.
Experiment
/
Experiments probing conversions between related enzymes report steep barriers (Gauger & Axe 2011).
Replication
/
Few independent experimental tests of large functional jumps.
Falsifiability
/
Pseudogenes, new genes and lost genes can all be accommodated.
Method score 6/18
ADemonstratedBStrongly supportedCPlausible inferenceDExtrapolationEAssumption

§4 What it would take

Here is what would move the claim up a grade. These are not impossible demands. They are the observations the claim itself implies.

  • A truly new function, observedObserve a duplicate gaining a function its ancestor lacked entirely, not just a boosted side-activity.
  • A passable road between enzymesShow, by experiment, a step-by-step path between two existing enzyme functions where every step works and is selectable.
  • Gain that outpaces lossShow that useful divergence happens faster than duplicates are silenced, in realistic population sizes.

§5 Another reading of the same data

The best experimental cases share a feature: the new function was already there, faintly. The Salmonella gene could already do both jobs, weakly; duplication let each copy do one job well. That is a real and elegant mechanism, but it explains how an existing capability is sharpened, not where it came from.

The antifreeze gene is a remarkable story, and the sequence evidence for its trypsinogen origin is strong. But the protein it makes is mostly a simple repeat of three amino acids carrying sugars. Building it required recruiting a signal sequence and amplifying a short repeat, not inventing a new folded enzyme. It shows that something simple can be assembled from existing parts. It is a long way from showing the same for a complex enzyme.

When Gauger and Axe asked how hard it would be to convert one enzyme into a close structural relative with a different function, they estimated that seven or more coordinated changes would be needed, more than they judged feasible by mutation and selection. Mainstream responses, such as Lynch (2005), argue that neutral drift can ease such paths. That debate is ongoing.

Read through a design lens, gene families look like variations on a theme, built with built-in flexibility (weak side-activities, regulatory switches) that lets organisms adapt. Duplication then becomes a way of adjusting dosage and specialising what exists, which is exactly what the experiments show.

§6 Reasoning check

The grade weighs the evidence. This check looks at the reasoning: the step from the evidence to the conclusion. The same tests are applied to both readings. How the reasoning check works →

In the claim as taught
  • Clear case

    The experiments show a duplicated gene specialising in an activity the ancestor already had. The claim as taught covers the origin of new functions in general.

  • Possible

    “A new function” can mean a weak side-activity made strong, or a function with no precursor at all. The evidence supports the first meaning.

In the other reading
  • Possible

    Gauger and Axe studied one pair of related enzymes. Treating their estimate as a general limit on enzyme evolution generalises from a single case, as their critics point out.

§7 Questions to ponder

  • Is amplifying a weak activity that already exists the same as inventing a new one?
  • Antifreeze glycoprotein is a simple repeating protein. What would a comparable case look like for a complex enzyme?
  • If most duplicates decay within a few million years, how often must a beneficial change occur to build a gene family?

§8 Sources

Supporting the mainstream claim
  1. Ohno S. Evolution by Gene Duplication. Springer (1970).C
  2. Näsvall J, Sun L, Roth JR, Andersson DI. “Real-time evolution of new genes by innovation, amplification, and divergence.” Science 338:384–387 (2012).B
  3. Chen L, DeVries AL, Cheng C-HC. “Evolution of antifreeze glycoprotein gene from a trypsinogen gene in Antarctic notothenioid fish.” PNAS 94:3811–3816 (1997).B
  4. Lynch M, Conery JS. “The evolutionary fate and consequences of duplicate genes.” Science 290:1151–1155 (2000).B
  5. Zhang J. “Evolution by gene duplication: an update.” Trends in Ecology & Evolution 18:292–298 (2003).C
  6. Lynch M. “Simple evolutionary pathways to complex proteins.” Protein Science 14:2217–2225 (2005).C
Critical & alternative perspectives
  1. Behe MJ, Snoke DW. “Simulating evolution by gene duplication of protein features that require multiple amino acid residues.” Protein Science 13:2651–2664 (2004).C
  2. Gauger AK, Axe DD. “The evolutionary accessibility of new enzyme functions: a case study from the biotin pathway.” BIO-Complexity 2011(1):1–17 (2011).C

Source grades are provisional. In production each links to a full published evaluation that readers can challenge.

§9 Your notes