Perixosomes

Introduction

  • Instructor Information:

    • Dr. Triana Amen

    • Email: t.amen@soton.ac.uk

    • Office: Building 85, Room 3035

  • Course Details:

    • Course Code: BIOL2056

    • Topic: Cell Biology Protein Targeting: Peroxisome

  • Recommended Literature:

    • Alberts, Molecular Biology of the Cell, 6th Edition, Chapter 12

Learning Objectives

  • Understanding the role of peroxisomes in:

    • Redox homeostasis

    • Lipid metabolism

  • Knowledge of peroxisomal protein import machinery and targeting signals

  • Mechanisms of protein translocation into peroxisomes

  • Characteristics of protein translocation specific to peroxisomal import

  • Case studies on peroxisome biogenesis disorders

Importance of Peroxisomal Protein Targeting

  • Cellular Universality:

    • All eukaryotic cells contain peroxisomes

  • Functional Roles of Peroxisomes:

    • Synthesize essential lipids (e.g., ether lipids)

    • Catalyze reactions transforming electrons to oxygen, producing hydrogen peroxide (H2O2)

    • Bioluminescence: Light produced by luciferase in peroxisomes

Peroxisome Targeting Signals (PTS)

  • Types of Peroxisome Targeting Signals:

    • PTS1 (Peroxisomal Targeting Signal-1):

    • A C-terminal tripeptide sufficient for directing proteins to peroxisomes

    • Sequence: [SAGCN]1-[RKH]2-[LIVMAF]3

    • Localized at the C-terminus

    • PTS2 (Peroxisomal Targeting Signal-2):

    • An N-terminal sequence providing a second import pathway

    • Sequence: [RK]-[LVIQ]-X-X-[LVIHQ]-[LSGAK]-X-[QH]-[LAF]

    • Localized close to the N-terminus

    • Note: Only one PTS (either PTS1 or PTS2) is sufficient for import into peroxisomes.

Peroxisomal Import Machinery

  • Reception and Recognition:

    • PEX5: The receptor for PTS1 and PTS2

    • Interacts with PTS signals using tetratricopeptide repeats (TPRs) within its C-terminal half

    • Interaction with PEX7 for PTS2

    • Structure: C-terminal tetra-helical 34 aa motifs

  • Translocation Complex:

    • PEX13 and PEX14: Subunits of the peroxisomal protein translocation complex

    • Identified complexities not previously observed

    • PEX5-cargo complex binds the PEX13/14 translocation complex to facilitate internalization into peroxisomes

Mechanism of Peroxisomal Import

  • Import Process:

    • Peroxisomes are capable of importing large folded proteins, protein complexes, and even particles coated with PTS

    • Cargo size: Particles around 0.2µm

    • Example: Import of 9 nm gold particles coated with PTS (Walton et al., 1995)

  • Pore Complexes:

    • Speculation on large pore complexes enabling import has not been visually confirmed

    • PEX13 features YG repeats akin to FG repeats in nuclear pore complexes facilitating nuclear import

Import Models

  • Three Models:

    • NPC-like Model:

    • Proteins synthesized in the cytoplasm

    • Limited diffusion between cellular compartments

    • Condensation Model:

    • PEX5-cargo complexes cluster through interactions with PEX13

    • YG-rich repeats create structure aiding in cargo import

Energy Considerations

  • Energy Requirement:

    • Peroxisomal import is energy-independent

    • PEX5 Recycling:

    • PEX5 recycling requires ATP energy through PEX1/PEX6 ATPase

Peroxisome Dysfunction & Development

  • Brain Development Impact:

    • Loss of PEX5 results in impaired import and complete loss of peroxisomal functions

    • Related to Peroxisome Biogenesis Disorders (PBD) characterized by neurological defects such as demyelination

    • Reference: Zellweger spectrum of PBDs (Powers and Moser, 1998)

Dual Localization Potential

  • Proteins with multiple targeting signals can localize to different compartments

    • Example: Yeast phosphatase Ptc5 with both N-terminal mitochondrial localization sequence and C-terminal PTS1

Piggyback Mechanism

  • External Interaction for Import:

    • Proteins can utilize interaction with other peroxisomal cargoes to gain entry

    • Example: Malate dehydrogenase Mdh2 enters via interaction with Mdh3 that contains PTS1 (Gabay-Maskit et al., 2020)

Summary of Peroxisomal Import

  • Recognition and Translocation:

    • PEX5 recognizes PTS-containing proteins and transports them to peroxisomes

    • PEX13 and PEX14 facilitate the transport of PEX5-cargo complexes

    • Proteins can localize to multiple places within cells

Recommended Literature & Further Questions

  • Literature for Further Reading:

    • Alberts, Molecular Biology of the Cell, 6th Edition, Chapter 12

    • Identified studies on nuclear pore-like phases in protein import, and mechanisms via protein phase separation

    • Research on the piggybacking mechanism for peroxisomal localization

  • Questions for Further Exploration:

    • Can a protein change its localization to a different cellular compartment?

    • What is the mechanism of the piggybacking approach for protein translocation?

Assessment & Feedback

  • Engagement Encouraged:

    • Students are invited to express their views via an anonymous Assessment Environment Questionnaire

    • Opportunity for additional involvement with a focus group leading to gain rewards for feedback participation.

Introduction

  • Instructor Information:

    • Dr. Triana Amen

    • Email: t.amen@soton.ac.uk

    • Office: Building 85, Room 3035

  • Course Details:

    • Course Code: BIOL2056

    • Topic: Cell Biology Protein Targeting: Peroxisome

  • Recommended Literature:

    • Alberts, Molecular Biology of the Cell, 6th Edition, Chapter 12: "Intracellular Compartments and Protein Sorting"


Learning Objectives

  • Metabolic Roles:

    • Mastery of peroxisomal roles in redox homeostasis, specifically the management of reactive oxygen species (ROS).

    • Understanding lipid metabolism, focusing on $\beta$-oxidation of very-long-chain fatty acids (VLCFA) and ether lipid synthesis.

  • Molecular Mechanisms:

    • Detailed knowledge of peroxisomal protein import machinery (PEX proteins).

    • Identification of Peroxisome Targeting Signals ($PTS1$ and $PTS2$).

    • Analysis of the unique translocation characteristics (e.g., importing fully folded proteins).

  • Pathology:

    • Evaluation of Peroxisome Biogenesis Disorders (PBDs) such as Zellweger Syndrome through case studies.


Importance of Peroxisomal Protein Targeting

  • Cellular Universality:

    • Present in nearly all eukaryotic cells. Unlike mitochondria or chloroplasts, they lack their own genome and must import all proteins from the cytoplasm.

  • Functional Diversity:

    • Lipid Synthesis: Synthesis of plasmalogens (the most abundant class of phospholipids in myelin), essential for insulating nerve cells.

    • Oxidative Reactions: Peroxisomes contain enzymes that remove hydrogen atoms from specific organic substrates ($R$) in an oxidative reaction that produces hydrogen peroxide ($H{2}O{2}$):

    • $RH{2} + O{2} \rightarrow R + H{2}O{2}$

    • Catalase Action: Peroxisomes contain high concentrations of the enzyme catalase, which utilizes the $H{2}O{2}$ to oxidize other substrates (phenols, formic acid, alcohol) or converts it to water: $2H{2}O{2} \rightarrow 2H{2}O + O{2}$.

    • Bioluminescence: In fireflies, the enzyme luciferase is targeted to peroxisomes to produce light.


Peroxisome Targeting Signals (PTS)

  • PTS1 (Post-translational):

    • The most common signal found in the majority of peroxisomal matrix proteins.

    • Sequence: A C-terminal tripeptide ($SKL$ motif: Serine-Lysine-Leucine) or variants described by $[SAGCN]{1}-[RKH]{2}-[LIVMAF]_{3}$.

    • Position: Must be at the extreme C-terminus; addition of extra amino acids after the signal usually abolishes targeting.

  • PTS2:

    • Used by a smaller subset of proteins.

    • Sequence: A nonapeptide sequence near the N-terminus: $[RK]-[LVIQ]-X-X-[LVIHQ]-[LSGAK]-X-[QH]-[LAF]$.

    • Processing: Often involves the cleavage of a pro-peptide after import, unlike $PTS1$.

  • Efficiency: Only one signal (either $PTS1$ or $PTS2$) is required for successful translocation.


Peroxisomal Import Machinery

  • Receptor Recognition:

    • PEX5: The primary soluble receptor for $PTS1$. It utilizes tetratricopeptide repeats (TPRs) to bind the C-terminal cargo.

    • PEX7: The soluble receptor for $PTS2$. In many organisms, PEX5 acts as a co-receptor or "adapter" for PEX7.

    • Structure: PEX5 is a "shuttling receptor," meaning it moves between the cytosol and the peroxisome interior.

  • Docking and Translocation Complex:

    • PEX13 and PEX14: These are integral membrane proteins that form the docking site for the receptor-cargo complex.

    • Convergent Pathways: Both $PTS1$ and $PTS2$ pathways converge at the PEX13/PEX14 translocation complex.


Mechanism of Peroxisomal Import

  • Folded Import: Unlike the Sec64 or TOM/TIM complexes (ER and mitochondria), peroxisomes import proteins in their fully folded and even oligomeric states.

    • Evidence: Experiments showed that $9 \text{ nm}$ gold particles conjugated to $PTS1$ signals were successfully imported into the matrix ($Walton \text{ et al., } 1995$).

    • Cargo Size: Peroxisomes can accommodate particles up to approximately $0.2 \mu m$ in diameter.

  • Pore Dynamics:

    • There is no permanent large pore. Instead, a "transient pore" or "cargo-triggered pore" is hypothesized to form upon the binding of PEX5-cargo complexes to PEX14.

    • Y-G Repeats: PEX13 contains tyrosine-glycine ($YG$) repeats, similar to the $FG$ (phenylalanine-glycine) repeats in nuclear pore complexes, suggesting a shared evolutionary strategy for moving large complexes across membranes.


Energy and Receptor Recycling

  • Energy-Independent Import: The actual translocation of the cargo into the matrix does not directly require $ATP$ hydrolysis.

  • The Recycling Phase: $ATP$ is required to remove the receptor (PEX5) from the peroxisomal membrane back into the cytosol.

    • Mechanism: PEX5 is mono-ubiquitinated at a conserved cysteine residue to signal its release.

    • The AAA-ATPase Complex: $PEX1$ and $PEX6$ are $AAA$ (ATPases Associated with diverse cellular Activities) proteins that use the energy of $ATP$ to pull PEX5 out of the membrane, resetting the system for the next round of import.


Peroxisome dysfunction and Pathology

  • Peroxisome Biogenesis Disorders (PBD):

    • Zellweger Spectrum Disorders (ZSD): Caused by mutations in PEX genes ($PEX1, 2, 3, 5, 6, 10, 12, 13, 14, 16, 19, 26$).

    • Clinical Manifestations: Characterized by "empty" peroxisomes (ghosts) where the membrane exists but matrix enzymes remain in the cytosol and are degraded.

    • Symptoms: Severe neurological deficits, hypotonia, demyelination, and liver dysfunction. Death often occurs within the first year of life ($Powers \text{ and } Moser, 1998$).

  • Metabolic Impact: Failure to oxidize $VLCFAs$ leads to their accumulation in the brain and adrenal glands, disrupting myelin formation.


Advanced Targeting: Piggybacking and Dual Localization

  • Dual Localization: Some proteins contain multiple signals. Example: Yeast $Ptc5$ has a mitochondrial signal at the N-terminus and a $PTS1$ at the C-terminus, allowing it to function in both organelles depending on cellular metabolic state.

  • Piggybacking: Proteins without a $PTS$ can enter the peroxisome by binding to a protein that does have one.

    • Example: In yeast, Malate dehydrogenase $2$ ($Mdh2$) lacks a targeting signal but enters the peroxisome by forming a complex with $Mdh3$, which possesses a $PTS1$ ($Gabay-Maskit \text{ et al., } 2020$).


Summary of Peroxisomal Import

  1. Recognition: Soluble receptors (PEX5/PEX7) bind cargo in the cytosol.

  2. Docking: The receptor-cargo complex binds PEX14/PEX13 at the membrane.

  3. Translocation: The complex enters a dynamic pore; folded proteins pass through.

  4. Release: Cargo is released into the matrix.

  5. Recycling: PEX5 is ubiquitinated and extracted by $PEX1/PEX6$ in an $ATP$-dependent manner.


Recommended Literature & Research Questions

  • Reading: Alberts $MBOC$, Ch $12$.

  • Future Research Topics:

    • Exploring the mechanism of "protein phase separation" in forming the peroxisomal translocation pore.

    • How do cells regulate the ratio of dual-localized proteins between mitochondria and peroxisomes?