Axonal Outgrowth and Synapse Formation lecture 1

  • Lecturer's Background and Expectations:

    • The lecturer is a developmental biologist by training with a PhD in neuroscience (1515 years ago).

    • Transitioned to breast cancer and breast development research but maintained an interest in neuroscience, noting its essential role in mammary tissue specification and development.

    • French accent is noted; students are encouraged to interrupt for clarifications, rephrasing, or re-explanation.

    • Lectures are intended to be interactive, with questions from both the lecturer and students, fostering feedback and input.

  • Lecture Focus: Neural Specification and Development:

    • The primary goal is to understand how neurons are specified, focusing on the molecular mechanisms that transform an initial cell (often a stem cell) into a defined neural identity through various signals.

    • These signals lead to the development of different neuron subtypes.

    • The lectures will also cover how neurons emit axons and dendrites, and how axons are guided to their targets to form connections or synapses.

  • Three Main Concepts in Neurodevelopment:

    • Number: The sheer quantity of neurons.

    • Position: The spatial organization and interaction of neurons.

    • Shape: The diverse morphologies of neurons.

    • These three elements work in concert to form the brain.

  • Impressive Numbers in the Brain:

    • The human brain contains approximately 100100 billion neurons.

    • Each neuron can form thousands of connections (synapses), leading to an immense number of synapses that contribute to a functional brain.

  • Programmed Cell Death (Apoptosis) in Neurodevelopment:

    • A crucial concept: up to 50%50\% of neurons die during development, primarily through apoptosis.

    • This process is essential for establishing strong and functional synapses by eliminating neurons unable to meet developmental requirements.

    • This developmental cell death is distinct from the exacerbated cell death mechanisms seen in neurodegenerative diseases like Alzheimer's and Huntington's, although cell death mechanisms are involved in both contexts.

    • This concept will be revisited in the third of four lectures.

  • Neurodevelopmental Timeline (Video Summary):

    • The video illustrates the increase in cell numbers and changes in the central nervous system's shape during the 99 months of human gestation.

    • By 33 months, there are about 1010 million cells, and the nervous system begins to exceed the size of a dime, with the future cerebrum and cerebellum expanding disproportionately.

    • By 66 months, hundreds of millions of neurons are present, and the brain starts to show familiar convolutions, with initial deep indentations.

    • By 88 to 99 months, billions of nerve cells (tens of billions) are present, with more cells to be produced to reach the 100100 billion adult count.

    • A remarkable feature is that even in adult life, environmental richness can influence neuron numbers.

    • This increase in number, coupled with variations in fate, shape, and position, is critical for shaping the brain.

  • Historical Perspective: Neuron Shape (Ramon y Cajal):

    • Santiago Ramon y Cajal, over 100100 years ago, was a pioneer in studying neuron shapes, drawing many subtypes.

    • He highlighted the diversity of neuron cell types in the nervous system and their role in underpinning functional aspects of behavior and overall brain functions.

    • Examples include Purkinje cells and granule cells, each with distinct shapes and proportions that contribute to brain development and final morphology.

  • Positional Information and Spatial Organization:

    • Neurons are organized contextually, influencing their interactions with the environment and other neurons.

    • They integrate signals from their immediate surroundings, neighboring cells, and tissue topology.

    • Positional information is critical for proper neuronal function.

    • Brainbow Mouse Model: An example of fate mapping or lineage tracing that labels neurons across almost the entire color spectrum, revealing the immense diversity and packed nature of neurons.

    • The packed nature implies mechanical constraints and stresses, requiring fine-tuned interactions with their environment and other cells.

  • Lecture Series Overview:

    • The course consists of four lectures and one journal club.

    • Topics: Mechanisms driving neural specification, axon guidance to targets for synapse formation, and fine-tuning of synapse formation.

    • Goal: Provide general concepts of neural specification and synapse formation.

    • Resources: Published literature (core papers and primary research paper for journal club), textbook available in the library, and a link to Tom Jessell's lecture for general principles of neural specification.

    • Students are encouraged to proactively review journal club papers to facilitate lively discussions, as some findings may challenge textbook generalizations, adding complexity to neurodevelopment.

  • Foundational Concepts Revisited (from previous Neuroscience courses):

    • Differentiation: The process by which cells become specialized.

    • Temporal and Spatial Regulation: Neural formation, specification, and synapse formation are precisely regulated across time and space.

    • Neural Tube Formation and Induction: Begins with neural induction, where specification processes occur along the anterior-posterior axis, segmenting the nervous system and establishing polarity.

    • Morphogenetic Process: Regulated by various morphogen genes, with developmental structures like the notochord, floor plate, and roof plate of the neural tube playing essential roles by releasing specific molecules.

    • These molecules act in concert to regionalize the nervous system and define neuron subtypes that build brain networks.

  • Neural Tube Structure and Inductive Signals:

    • The neural tube is an epithelial tube organized around a central lumen.

    • Notochord: A dermal structure specified during gastrulation, located underneath the neural tube, releases Sonic hedgehog (Shh).

    • Floor Plate: Part of the neural tube, releases Shh and Retinoic Acid (RA), and Chordin (an organizer gene and ligand).

    • Roof Plate: Part of the neural tube, releases Bone Morphogenetic Protein (BMP), RA, and Noggin (another organizer ligand).

    • Somites: Also release essential molecules, mainly BMP.

    • Different gradients of these morphogens are established based on the location of their sources, influencing regional specification.

  • Inductive Development / Conditional Specification:

    • Neural specification and development are inductive processes, meaning different structures and cells influence each other based on their interactions and environmental cues.

    • This induces the differentiation and specification pathways of neural progenitors.

  • Differential Gene Expression (30,00030,000 Genes):

    • All body cells contain the same DNA.

    • Differential gene expression is the fundamental process in development where cells induce specific gene expression networks (either repressed or induced) in response to various signals.

    • This is the underlying mechanism of inductive development, allowing cells to adopt specific identities despite having the same genetic material.

  • Morphogens and Their Mechanisms:

    • Definition: Signaling molecules that inform development and affect gene expression in target cells.

    • Action: Their effect is concentration-dependent, meaning cells receive and respond to different amounts of morphogen based on their distance from the source.

    • Receptors: The amount of receptors expressed by target cells also influences their sensitivity and response to morphogens.

    • Combined, these factors define different neuron subsets.

    • Four Key Morphogens Discussed: Sonic hedgehog (Shh), Retinoic Acid (RA), Fibroblast Growth Factor (FGF), and Bone Morphogenetic Protein (BMP).

  • Specific Morphogen Signaling Pathways:

    • Sonic hedgehog (Shh):

    • Signaling occurs via Patched receptors.

    • Absence of Shh: Patched (11 and 22) inhibits Smoothened, leading to proteolytic maturation of Gli33 which translocates to the nucleus and acts as a transcriptional repressor.

    • Presence of Shh: Shh interacts with its co-receptor, releasing Patched's inhibition on Smoothened. This activates Gli22, which matures, translocates to the nucleus, and acts as a transcription factor, inducing a transcriptional program for cell specification.

    • Retinoic Acid (RA):

    • A lipophilic (cyclic) molecule that can pass through cell membranes to reach its intracellular receptors.

    • Can have positive or negative effects on transcription factors.

    • Fibroblast Growth Factor (FGF):

    • Binds to Receptor Tyrosine Kinases (RTKs), leading to a variety of downstream signaling pathways.

    • Examples: MAPK signaling for cell proliferation, pathways for cell survival, and cell motility.

    • The cellular response is context-dependent, balancing these mechanisms according to environmental interactions and other cell types.

    • Bone Morphogenetic Protein (BMP):

    • Dual Function:

      • Inhibits neural tube formation during initial ectoderm specification (antagonized by molecules like Noggin and Chordin to induce the neural plate).

      • Plays an essential role in neuron specification after neural tube formation.

    • Signaling Pathway: Part of the TGF-beta signaling pathway, with SMADs as the main downstream effectors.

    • SMADs form complexes that translocate to the nucleus, activating gene expression programs that define neural progenitor identity.

  • Cell-to-Cell and Intracellular Signaling:

    • Reciprocal Activation/Repression: Intracellular transcription factors can activate or repress each other, finely tuning specification.

    • Cell-Cell Interactions: Interactions between different cells enable the formation of neuron subtypes.

    • Cell Sorting and Layering: Based on specific receptor expression and pathway activation, cells sort out to form clusters, contributing to essential brain mechanisms like layering.

    • Notch Signaling Example:

    • A key pathway for self-renewal of stem cells.

    • Involves Notch receptors and Delta ligands.

    • Mechanism: Interaction of Delta on one cell with Notch on a neighboring cell activates Notch, generating an intracellular domain (NICD).

    • NICD translocates to the nucleus and acts on gene expression.

    • Feedback Loop: Initially, cells express similar levels of Notch and Delta.

    • Over time, NICD inhibits Delta expression in its own cell while promoting more Notch receptor expression.

    • This leads to a divergence: one cell expresses almost no Delta and more Notch, while the other expresses more Delta and almost no Notch.

    • This feedback process sorts cells, defining distinct cell identities and allowing for the formation of specialized tissues and brain layers.

  • Concluding Remarks: The introduction provides a simple start to complex concepts, with more specific examples to follow in subsequent lectures.