2.4 DNA Topology

The mathematics of DNA coiling, superhelicity, and the enzymes that control it

Introduction to DNA Topology

DNA topology refers to the three-dimensional configuration of the DNA double helix, particularly how the two strands are intertwined and how the helical axis coils in space. Unlike simple geometric properties, topological properties cannot be changed without breaking covalent bonds in the DNA backbone.

In cells, DNA is not a relaxed molecule floating freely—it is constrained, twisted, and organized. Understanding DNA topology is crucial because:

  • Replication: The replisome must unwind DNA ahead of the fork, creating topological stress
  • Transcription: RNA polymerase generates positive supercoils ahead and negative behind
  • Recombination: DNA strand exchange creates complex topological intermediates
  • Packaging: Chromosomal DNA must be compacted 10,000-fold while remaining accessible

Fundamental Topological Concepts

Closed vs. Open DNA

Topologically Closed

  • • Circular DNA (plasmids, bacterial chromosomes)
  • • Linear DNA with fixed ends (eukaryotic loops)
  • • DNA bound to protein complexes
  • • Linking number is invariant

Topologically Open

  • • Linear DNA with free ends
  • • Can rotate freely to relieve stress
  • • No defined linking number
  • • Found in vitro, rarely in cells

Topological Domains

Even linear chromosomes are organized into topologically isolated domains where supercoiling is confined:

Bacterial

~50-100 domains per chromosome, ~10 kb each, bounded by DNA-binding proteins

Eukaryotic

Chromatin loops 30-300 kb, anchored by CTCF and cohesin at TAD boundaries

Function

Isolate transcriptional effects, prevent supercoil propagation, organize genome

The Linking Number Equation

$$Lk = Tw + Wr$$

The fundamental equation of DNA topology

The linking number (Lk) equals the sum of twist (Tw) and writhe (Wr). For topologically closed DNA, Lk is an integer invariant.

Lk (Linking Number)

  • Definition: Number of times one strand crosses the other when DNA is laid flat
  • Property: Topological invariant—cannot change without cutting DNA
  • Integer: Always a whole number for closed circles
  • Sign: Positive for right-handed helix

Tw (Twist)

  • Definition: Number of helical turns of one strand around the other
  • B-DNA: 1 turn per 10.5 bp (Tw = N/10.5)
  • Variable: Can be non-integer, depends on local structure
  • Measured: Along the helical axis

Wr (Writhe)

  • Definition: Coiling of the helical axis in 3D space
  • Supercoiling: Visible as plectonemic or toroidal coils
  • Variable: Can be non-integer, geometry-dependent
  • Interconvertible: With Tw at constant Lk

Relaxed vs. Supercoiled DNA

For relaxed circular DNA:

$$Lk_0 = \frac{N}{h} = \frac{N}{10.5}$$

Where N = number of base pairs, h = helical repeat

Supercoiling is measured by:

$$\Delta Lk = Lk - Lk_0$$
$$\sigma = \frac{\Delta Lk}{Lk_0}$$

σ = superhelical density (typically -0.05 to -0.07 in vivo)

DNA Supercoiling

Negative Supercoiling (−)

  • ΔLk < 0: Underwound DNA
  • Effect: Favors strand separation
  • Helix: Right-handed supercoils (same as DNA)
  • In vivo: Most cellular DNA is negatively supercoiled
  • Function: Facilitates replication, transcription initiation

Biological significance: Stores free energy that can be used to drive strand separation during DNA transactions

Positive Supercoiling (+)

  • ΔLk > 0: Overwound DNA
  • Effect: Opposes strand separation
  • Helix: Left-handed supercoils
  • Generated: Ahead of replication forks and transcribing polymerases
  • Hyperthermophiles: Use (+) supercoiling for genome stability

Danger: Must be removed or DNA transactions stall; topoisomerase inhibition causes replication fork arrest

Supercoil Geometries

Plectonemic (Interwound)

  • • DNA axis wraps around itself
  • • Branch points and loops
  • • Predominant in free DNA
  • • Visualized by EM as "figure-8" shapes

Toroidal (Solenoidal)

  • • DNA wound around a central axis
  • • Like thread on a spool
  • • Nucleosome wrapping is toroidal
  • • More compact packaging

The Twin-Domain Model of Transcription

As RNA polymerase transcribes DNA, it cannot rotate around the helix axis. Instead:

Ahead (+)

Positive supercoils accumulate ahead of RNAP

Behind (−)

Negative supercoils form behind RNAP

Solution

Topoisomerases resolve both domains

Topoisomerases: The Topology Managers

Topoisomerases are essential enzymes that modulate DNA topology by transiently breaking and rejoining DNA strands. They are absolutely required for DNA replication, transcription, and chromosome segregation.

Type I Topoisomerases

Mechanism

  • • Cut ONE DNA strand
  • • Form covalent enzyme-DNA intermediate
  • • Pass intact strand through break OR rotate
  • • Reseal the break
  • • Change Lk by ±1 per cycle

Subtypes

Type IA: 5′-phosphotyrosine, strand passage, ATP-independent. E. coli Topo I, Topo III
Type IB: 3′-phosphotyrosine, controlled rotation. Eukaryotic Topo I, viral topoisomerases

Energy

No ATP required. Uses torsional stress energy in DNA. Can only relax (remove) supercoils, not introduce them.

Type II Topoisomerases

Mechanism

  • • Cut BOTH DNA strands (DSB)
  • • Create a "gate" in one duplex
  • • Pass another duplex through
  • • Reseal the gate
  • • Change Lk by ±2 per cycle

Key Enzymes

DNA Gyrase: Bacterial. Introduces (−) supercoils. ATP-dependent. Target of quinolones.
Topo IV: Bacterial. Decatenates chromosomes. Essential for segregation.
Topo IIα/β: Eukaryotic. Decatenation, relaxation. Target of etoposide.

Energy

Requires ATP hydrolysis. Can work against torsional stress. Gyrase can introduce (−) supercoils de novo.

Topoisomerase Comparison Table

EnzymeTypeΔLkATPFunctionInhibitors
E. coli Topo IIA+1NoRelax (−) supercoils
E. coli Topo IIIIA±1NoDecatenation, recombination
Euk. Topo IIB±1NoRelax (+) and (−)Camptothecin, Irinotecan
DNA GyraseIIA−2YesIntroduce (−) supercoilsQuinolones, Novobiocin
Topo IVIIA±2YesDecatenationQuinolones
Euk. Topo IIα/βIIA±2YesDecatenation, relaxationEtoposide, Doxorubicin

The Phosphotyrosine Intermediate

All topoisomerases form a covalent intermediate where an active-site tyrosine attacks the DNA phosphodiester backbone:

Type IA & IIA

5′-phosphotyrosine linkage

DNA-5′-O-P-O-Tyr-Enzyme

Free 3′-OH for strand passage

Type IB

3′-phosphotyrosine linkage

Enzyme-Tyr-O-P-O-3′-DNA

Free 5′-OH for religation

Clinical Significance: Topoisomerase poisons (camptothecin, etoposide, quinolones) stabilize this covalent intermediate, converting the enzyme into a DNA-damaging agent. Collision with replication forks converts the transient break into a lethal double-strand break.

DNA Gyrase: A Unique Enzyme

DNA gyrase is the only topoisomerase that can introduce negative supercoils into DNA, making it essential for bacterial survival and a major antibiotic target.

Structure

  • Composition: A₂B₂ heterotetramer
  • GyrA: Contains active-site tyrosine for cleavage
  • GyrB: Contains ATPase domain
  • C-terminal domain (CTD): Wraps DNA around enzyme

Mechanism

  1. CTD wraps ~130 bp of DNA around enzyme
  2. This wrapping introduces (+) crossover
  3. GyrA cleaves G-segment (Gate)
  4. T-segment (Transport) passes through
  5. Gate reseals: net change Lk = −2
  6. ATP hydrolysis resets enzyme

Antibiotic Targets

Quinolones (e.g., Ciprofloxacin)

  • • Target: GyrA subunit
  • • Mechanism: Stabilize cleavage complex
  • • Effect: Convert gyrase into DNA poison
  • • Resistance: GyrA mutations (Ser83, Asp87)

Aminocoumarins (e.g., Novobiocin)

  • • Target: GyrB subunit
  • • Mechanism: Compete with ATP binding
  • • Effect: Inhibit ATPase, prevent turnover
  • • Less used clinically but important tool

Catenanes, Knots, and Complex Topology

Catenanes

Interlocked circular DNA molecules that arise during replication of circular genomes.

  • Formation: Convergence of replication forks on circular DNA
  • Problem: Daughter circles remain linked
  • Solution: Type II topoisomerases (Topo IV, Topo II)
  • Catastrophe: Failure → chromosome non-disjunction

DNA Knots

Self-intertwined DNA molecules that can form during recombination and replication.

  • Origin: Recombination intermediates, replication errors
  • Complexity: Described by knot theory (trefoil, figure-8)
  • Resolution: Type II topoisomerases unknot DNA
  • Model organism: Studied in bacteriophage P4

Topological Problems in DNA Replication

1. Supercoil Accumulation

As the replisome advances, it cannot rotate around DNA. Positive supercoils accumulate ahead at ~100 per second. Without topoisomerases, fork stalls after 1 second.

2. Pre-catenanes

If supercoils behind the fork are not removed, they distribute around daughter duplexes as pre-catenanes (intertwining of daughter DNAs before replication completes).

3. Terminus Resolution

At the terminus, converging forks cannot simply melt apart—remaining links must be resolved by Topo IV. This is rate-limiting for chromosome segregation.

Biological Importance of DNA Topology

Transcription Regulation

Negative supercoiling profoundly affects gene expression:

  • Promoter melting: (−) supercoiling lowers energy barrier for strand separation
  • Supercoiling-sensitive genes: Many genes require σ ≈ −0.06 for optimal expression
  • Gyrase inhibition: Quinolones rapidly shut down transcription globally
  • Environmental response: Osmotic stress, temperature changes alter supercoiling

Chromatin and Nucleosomes

Eukaryotic chromatin structure is intimately connected to topology:

Nucleosome Wrapping

  • • 147 bp wrapped ~1.65 turns
  • • Left-handed toroidal supercoil
  • • Each nucleosome: ΔLk ≈ −1
  • • Constrains (−) supercoils

Topological Domains

  • • TADs (topologically associating domains)
  • • CTCF/cohesin boundaries
  • • Insulate supercoiling effects
  • • Regulate enhancer-promoter contacts

Disease Connections

Cancer

Topo II poisons (etoposide, doxorubicin) are chemotherapy drugs. Therapy-related leukemia from Topo II-mediated translocations.

Neurodegeneration

Topo I defects cause spinocerebellar ataxia. TOP3B mutations linked to schizophrenia and cognitive disorders.

Development

Cohesinopathies (Cornelia de Lange syndrome) affect topological domain organization.

Experimental Methods

Gel Electrophoresis

  • Principle: Supercoiled DNA migrates faster than relaxed
  • Topoisomers: Different Lk values appear as ladder
  • Chloroquine gels: Intercalator shifts mobility pattern
  • 2D gels: Resolve complex topological mixtures

Single-Molecule Methods

  • Magnetic tweezers: Rotate DNA, measure extension vs. turns
  • Optical tweezers: Apply force, monitor supercoiling transitions
  • AFM: Visualize plectonemes and knots directly
  • FRET: Monitor topology changes in real time

Psoralen Crosslinking

  • Principle: Psoralen intercalates preferentially in (−) supercoiled DNA
  • UV crosslink: Creates covalent link between strands
  • Quantification: More crosslinks = more (−) supercoiling
  • Mapping: Identify supercoiled regions genome-wide

GapR-seq / Topo-seq

  • GapR: Protein that binds (+) supercoiled DNA
  • ChIP-seq: Map (+) supercoiling genome-wide
  • Topo-seq: Map topoisomerase cleavage sites
  • Resolution: ~100-1000 bp regions

Key Equations Summary

$$Lk = Tw + Wr$$

Linking number equation

$$Lk_0 = \frac{N}{h} \approx \frac{N}{10.5}$$

Relaxed linking number

$$\Delta Lk = Lk - Lk_0$$

Linking number deficit

$$\sigma = \frac{\Delta Lk}{Lk_0}$$

Superhelical density

Key Takeaways

  • ✓ DNA topology describes how DNA strands are interlinked and how the helix coils in space
  • ✓ Lk = Tw + Wr: Linking number equals twist plus writhe (fundamental topological constraint)
  • ✓ Cellular DNA is negatively supercoiled (σ ≈ −0.06), facilitating strand separation
  • ✓ Type I topoisomerases cut one strand, change Lk by ±1, no ATP required
  • ✓ Type II topoisomerases cut both strands, change Lk by ±2, require ATP
  • ✓ DNA gyrase uniquely introduces (−) supercoils; essential for bacteria, antibiotic target
  • ✓ Topological problems (catenanes, knots) must be resolved for chromosome segregation
  • ✓ Nucleosome wrapping constrains (−) supercoils in eukaryotic chromatin