Lecture 2 - BS3540

The Hallmarks of Cancer

  • Resisting cell death
  • Inducing angiogenesis
  • Sustaining proliferative signaling
  • Enabling replicative immortality
  • Evading growth suppressors
  • Activating invasion and metastasis

Cell Communication and Growth Factors

  • A single oncoprotein can alter many cellular regulatory pathways.
  • Normal cells receive and process growth-stimulatory signals.
  • Cell-to-cell communication is crucial for multicellular organisms.
  • Growth factors (GFs) mediate much of this communication.
  • GFs are small proteins that carry biological messages between cells.
  • Decisions about growth are made for the welfare of the entire tissue and organism.
  • Growth factors tie cells within a tissue together, enabling continuous communication.
  • Mitogens are growth-stimulating factors that induce cell proliferation.
  • Oncoproteins mimic growth factors, deceiving the cell into thinking it has encountered them.
  • Neighboring cells secrete factors that determine the behavior of other cells.

Blood Clotting, Wound Healing, and PDGF

  • Platelet-derived growth factor (PDGF) is stored in secretory exocytotic vesicles called α-granules within platelets.
  • When platelets activate during clot formation, α-granules release mitogens and survival factors.
  • PDGF promotes cell movement and proliferation (fibroblasts).
  • Platelets adhere to form a matrix, trapping cellular components of blood.
  • The remaining serum contains growth factors that stimulate cell multiplication.
  • PDGF attracts fibroblasts to the wound site.
  • Cancer is like a wound-healing process that cannot stop.

PDGF and Fibroblast Attraction

  • PDGF is a potent attractant and mitogen for fibroblasts.
  • Experiment:
    • Monolayer cells are scratched.
    • PDGF is added.
    • Wound healing (proliferation) observed in the gap.
    • In PDGF receptor mutants, the gap is not filled.

ErbB Signaling Network

  • Illustrates how cells communicate with their surroundings using various ligands and receptors.
  • Ligands: LPA, TGF-α, EGF, epiregulin, B-cellulin, HB-EGF, amphi-regulin, NRG-1, NRG-2, NRG-3, NRG-4, thrombin, ET, etc.
  • Receptors: HER1, HER2, HER3, HER4.
  • Signaling cascades involve adaptors and enzymes (SRC, CBL, PLC, PI3K, SHP2, SOS, RAF, AKT, MEK, PKC, BAD, S6K, MAPK, SHC, NCK, VAV, GRB7, CRK, GRB2, RAC, JAC, PAK, JNKK, JNK, ABL).
  • Transcription factors: JUN, SP1, MYC, FOS, ELK, ERG1, STAT.
  • Outputs: growth, adhesion, differentiation, apoptosis, migration.

Signaling Cascades and Specificity

  • Cells use circuits assembled from interconnected proteins.
  • These circuits pass signals from an upstream source to downstream targets, avoiding unintended activation of other proteins.
  • Signaling pathways exchange signals only with specific partners.
  • Oncoproteins often cause cancer by creating signaling imbalances.
  • Cancer is viewed as a disease of aberrant signal processing rather than just inappropriate cell proliferation.
  • Individuals at the top of a hierarchical organization (in this case within the signaling cascade) exert more influence.
  • Mitogenic signals are rapidly conveyed from the cell surface receptor to transcription factors in the nucleus.
  • Changes in protein structure, configuration, and intracellular localization play a dominant role, rather than new protein synthesis.

Activation of Immediate Early Genes

  • Rapid activation (~30 minutes).
  • Does not require transcription.
  • Involves:
    • Growth factor binding to receptor.
    • Activation of translation factors.
    • Activated serine/threonine kinase.
    • Phosphorylation of transcription factors.
    • mRNA production from immediate early genes.

Src and Tyrosine Kinases

  • Src is a tyrosine kinase.
  • Phosphorylation state of many proteins is altered in cells transformed by the Rous sarcoma virus.
  • Signaling through tyrosine phosphorylation is largely used by mitogenic signaling pathways in mammalian cells.
  • Protein phosphorylation (serine, tyrosine, threonine) is important in making cells cancerous.

EGF Receptor

  • EGF binds to surfaces of cells whose growth it stimulates.
  • EGF receptor was purified and sequenced from an epidermoid carcinoma of the uterus where it’s overexpressed (∼100x).
  • Sequence provided insights into structure and function.
  • EGF receptor functions as a tyrosine kinase.
  • The ectodomain binds EGF and activates the cytoplasmic domain.
  • The cytoplasmic domain has sequence similarity to the Src oncogene.
  • Src oncogenic virus is contained in EGF, making the receptor oncogenic.

Receptor Tyrosine Kinase Families

  • Various families including:
    • ErbB (EGFR, ErbB2, ErbB3, ErbB4).
    • PDGF (PDGFR, CSF1R).
    • VEGF (VEGFR1/Flt1, VEGFR2/KDR, VEGFR3/Flt4).
    • FGF (FGFR1, FGFR2, FGFR3, FGFR4).
    • Ins (InsR, IGF1R, InsRR).
    • Eph (EphA1-8, EphB1-4, EphB6).
    • And others like Ros, Trk, Ror, MUSK, Met, Axl, Tie, Ret, Ryk, DDR, ALK, STYK1.
  • Domain structures:
    • Tyrosine kinase.
    • Cysteine-rich.
    • Fibronectin type III.
    • Leucine-rich.
    • Cadherin.
    • Discoidin.
    • Ig.
    • EGF.
    • Kringle.
    • SAM.
    • Psi.
    • WIF.
    • Ephrin binding domain.
    • Fz.
    • Ldla propeller.
    • YWTD box.
    • Acid box.
    • Sema.
    • Mam domain.
  • There are 58 of these in the human genome.

Receptor Dimerization and Cross-Phosphorylation

  • Receptors bind to growth factors like PDGF.
  • They dimerize.
  • They cross-phosphorylate each other.

ErbB Oncogene

  • Discovered in avian erythroblastosis virus (AEV).
  • AEV is a transforming retrovirus that rapidly induces leukemia of red blood cell precursors.
  • ErbB is homologous to the EGF receptor but lacks sequences at the ligand-binding ectodomain.
  • The truncated EGF receptor sends a signal constitutively.

Deregulation of Receptor Firing

  • Altered structure.
  • Altered expression levels (e.g., by regulation of receptor turnover via endocytosis).

Gene Fusion

  • Causes constitutively dimerized receptors.
  • Results in truncation of the ectodomain and fusion with proteins prone to dimerize or oligomerize.

Constitutive Active Mutant Forms of Kit

  • Mutations alleviate the suppression of receptor firing.
  • Involves ligand (SCF) binding, receptor dimerization domain, juxtamembrane regulatory region, kinase domain, and kinase insert.
  • Mutations found in:
    • Exon 8, 9 (GIST, AML).
    • Exon 11 (GIST).
    • Exon 13 (GIST).
    • Exon 17 (mastocytosis, leukemias, seminomas).

Autocrine Signaling

  • Normally, cells do not synthesize a growth factor ligand for whose cognate receptor they also display.
  • Example: Invasive human breast carcinoma shows EGF receptor and TGF-α.

Paracrine, Endocrine, and Autocrine Signaling

  • Paracrine signaling: Growth factor signaling from one cell type to a nearby cell type.
  • Endocrine signaling: Signal sent through circulation from cells to a distant tissue.
  • Autocrine signaling: Auto-stimulatory signaling loop where cells produce their own mitogens.
  • In normal tissues, cell proliferation depends on signals received from neighbors.
  • This interdependence ensures tissue stability.
  • Self-reinforcing positive feedback loops often lead to physiological imbalances.

Domain Structure of Src

  • SH1: Tyrosine kinase catalytic core.
  • SH2: Binding domain for specific oligopeptide sequences flanking a p-tyr on its C-terminal site. (117 in the human genome).
  • SH3: Binds certain proline-rich sequence domains in partner proteins.

Structure and Function of SH2 Groups

  • SH2 domain works as a modular plug.
  • Binding site for phosphotyrosine.
  • Binding site for amino acid side chains.

Attraction of Signal-Transducing Proteins by Phosphorylated Receptors

  • Cross-phosphorylation occurs in many areas.
  • Examples (with receptor and phosphorylated tyrosine (Y) location):
    • PDGF-B receptor: Y751, Y771.
    • EGF receptor: Y845, Y992, Y1045, Y1068, Y1086, Y1148, Y1173.
  • Attracts proteins such as STAT3/5, Src, PLC-γ, Shc, PI3K, Cbl, NCK-α, JAK2, GAP, Grb2, NCK-B, GAB-1, SHP2, PLC-γ, SHP1, PTP1.

SH2 and SH3 Domains

  • SH2 and SH3 domains are linked to a repertoire of proteins.
  • Examples: Fps, Src, Syk, GAP, PLC-y, Grb2, Nck.
  • Bridging proteins (adaptors).

Molecular Ligands and Their Binding Domains

  • Modified peptides: p-Tyr, p-Thr, p-Ser, Me-Lys, Ac-Lys, Ub, Ubn.
  • Peptides: NPXY, RXXK, PXXP, PPXY, FPPPP, Pro D/E-XXLL, Val-COOH.
  • Nucleic acids: RNA, DNA.
  • Domains/Domains: PDZ, SAM, DD, DED, CARD, PyD, PB1, BRCT.
  • Phospholipids: PI(3,4,5)P3, PI(4,5)P2, PI(3)P, DAG, PA/PS.

Ras Signaling Pathway

  • Discovered in the Drosophila eye (sevenless).
  • Involves:
    • RTK (homolog of EGF receptor).
    • Shc (adaptor).
    • Grb (adaptor).
    • Sos (GEF - son of sevenless).
    • Ras (GDP to GTP).
  • Mutations affect eye development.

The Ras Signaling Cycle

  • GTP hydrolysis and Ras inactivation induced by GAP.
  • Upstream stimulatory signal and Ras activation triggered by GEF.
  • Blockage caused by oncogenic Ras mutation.

Association of Sos (GAP) with Growth Factor Receptors

  • Accomplished through adaptors.
  • Involves:
    • TK (tyrosine kinase).
    • Grb2 (growth factor receptor-bound protein 2).
    • Sos (son of sevenless).
    • Ras (rat sarcoma).
    • Shc (Src homology 2 domain-containing transforming protein).

Downstream of Ras, the MAPK Pathway

  • Leads to:
    • Tumorigenicity.
    • Cell proliferation.
    • Anchorage-independent growth.
    • Loss of contact inhibition.
    • Cell shape changes.
  • Involves proteins such as:
    • HMG14.
    • H3.
    • Fos/Jun (AP1).
    • HB-EGF.
    • CycD1.
    • Fos.
    • P21Waf1.

The AKT/PKB Pathway

  • Controls cell proliferation, cell death, and cell growth.
  • Involves:
    • PI3K (phosphoinositide 3-kinase).
    • PIP3 (phosphatidylinositol (3,4,5)-trisphosphate).
    • Akt/PKB (protein kinase B).
    • mTOR (mammalian target of rapamycin).
    • Bad (BCL2 associated agonist of cell death).
    • GSK-3β (glycogen synthase kinase 3 beta).
  • Leads to:
    • Inhibition of apoptosis.
    • Stimulation of proliferation.
    • Stimulation of protein synthesis (cell growth).

Ral and the Control of Cytoskeleton

  • Rac (ras-related C3 botulinum toxin substrate) emits mitogenic signals.
  • Induces reactive oxygen species (ROS).
  • Antagonizes the actions of several Rho proteins.

Downstream of Ras, the Ras Effector Loop

  • Specific amino acid mutations like G12V, T35S, E37G, Y40C affect interactions with effectors (PI3K, Raf, Ral-GEF).

Minor Signaling Lipids

  • Have inositol headgroups in the lipid bilayer.

Enzymatic Modification of Phosphatidylinositol (PI)

  • Involves:
    • PI3 kinase.
    • Phospholipase C (PLC).
  • Converts PI to various phosphorylated forms (PIP2, PIP3, IP3).

Docking of PH Domain on Akt/PKB to PIP3

  • Leads to Akt/PKB activation.
  • Involves:
    • PI3K (phosphoinositide 3-kinase).
    • PIP3 (phosphatidylinositol (3,4,5)-trisphosphate).
    • PTEN (phosphatase and tensin homolog).
    • PDK1, PDK2 (phosphoinositide-dependent kinase 1 and 2).
  • Akt/PKB then phosphorylates downstream targets.

Akt/PKB Phosphorylation

  • Targets include:
    • GSK-3β (glycogen synthase kinase 3 beta).
    • HIF-1α (hypoxia-inducible factor 1-alpha).
    • Bad (BCL2 associated agonist of cell death).
  • Leads to:
    • Proliferation.
    • Angiogenesis.
    • Inhibition of apoptosis.

Conceptual Representation of a Signaling Network

  • Wide input layer (multiple RTKs).
  • Small number of core processes (PI-3K signaling, MAPK signaling, Ca2+ signaling).
  • Wide output layer (transcriptional responses and cytoskeletal changes).
  • Feedback loops exist between core processes and input/output layers.
  • Feedforward regulation by core processes (e.g., MAPK signaling) of immediate early gene products.
  • System control occurs between the input and output layers.

Intrinsic Activity of Signaling Molecules

  • May be modulated by:
    • Noncovalent modification (e.g., binding of GTP, phospholipid, Ca2+Ca^{2+}).
    • Receptor dimerization.
    • Covalent modification (e.g., phosphorylation).
    • Proteolytic cleavage.
  • Concentration of a signaling molecule is modulated by:
    • Transcriptional regulation.
    • Protein stability.
  • Involves intracellular localization and kinetics.
  • Activation of dormant signaling molecules.
  • Modular architecture with afferent (incoming) and efferent (outgoing) signals.

Thought Questions (and potential answers)

  • Why is autocrine signalling an intrinsically destabilising force for a normal tissue?
    • Autocrine signaling bypasses normal regulatory mechanisms that control cell proliferation and ensures tissue homeostasis. It allows cells to proliferate independently of external cues, disrupting tissue architecture and potentially leading to uncontrolled growth and tumor formation.
  • Each growth factor elicits its own, quite characteristic set of biological responses in cells. How might you alter a cell so that its biological responses to one growth factor (e.g. EGF) are characteristic instead of the responses that it usually makes after being exposed to another growth factor (e.g. PDGF)?
    • To alter a cell's response to growth factors, you could modify its receptor repertoire or downstream signaling pathways. For example, you could overexpress the EGF receptor and introduce components of the EGF signaling pathway into cells that normally respond to PDGF. Alternatively, you could disrupt or inhibit signaling molecules specific to the PDGF pathway, redirecting the cell's response towards EGF-like behavior.
  • The responsiveness of a cell to exposure of growth factor are usually attenuated after a period of time (e.g. half an hour), after which time it loses this responsiveness. Given what you have already learnt about growth factor receptors, what mechanisms might be employed by a cell to reduce its responsiveness to growth factors?
    • Several mechanisms can attenuate a cell's responsiveness to growth factors over time. Receptor internalization and degradation (endocytosis) can reduce the number of receptors on the cell surface. Also receptor dephosphorylation by phosphatases can reverse the activating phosphorylation events. Furthermore, the induction of negative feedback loops, where downstream signaling molecules inhibit upstream components of the pathway, can dampen the response. Finally desensitization mechanisms can be involved too.
  • What lines of evidence can you cite to support the notion that growth factor receptor firing following ligand binding is often dependent on the dimerisation of a receptor?
    • Several lines of evidence support the idea that growth factor receptor firing depends on receptor dimerization. Structural studies have shown that ligand binding often induces receptors to dimerize, bringing their intracellular kinase domains into close proximity. Mutating receptors to prevent dimerization impairs their ability to autophosphorylate and activate downstream signaling pathways. Overexpression of truncated receptors that can bind ligand but lack kinase domains can act as dominant negatives, inhibiting signaling by endogenous receptors by preventing dimerization.