Lecture 2: Concepts in Developmental Biology Flashcards
What directs initial developmental stages? (2)
- Maternal genes
- egg cytoplasm
Explanation: Maternal genes and the egg’s cytoplasm provide initial instructions for cleavage, polarity, and basic embryonic structures, setting the stage for later development.
What directs development after cleavage?
Zygotic genes
Explanation: After the initial stages driven by maternal factors, the embryo’s own genes, the zygotic genes, become active and direct further differentiation and organogenesis.
What factors influence development over time? (2)
Gene products & environment
Explanation: Development is dynamic, shaped by proteins, signaling molecules (gene products), and external influences like nutrition, temperature, and chemical exposure.
What concept states that all cells have the same genetic material?
Genomic equivalence
Explanation: Genomic equivalence states that all cells in an organism have the same complete set of genetic information.
True or False: Every cell in the body has an identical genome.
False
What is the term for cells having different genetic compositions within an individual?
an exception to genomic equivalence, especially in brain cells
Genomic mosaicism
Explanation: Genomic mosaicism describes the presence of different genetic variations within an individual’s cells, particularly observed in neurons, where DNA alterations can differ from the germline.
Where is genomic mosaicism mostly found?
Brain cells (neurons)
What distinguishes genomic mosaicism from epigenetic changes?
DNA sequence alterations
What is an example of a genetic alteration in neurons? (4)
- Aneuploidy
- CNVs
- SNVs
- LINE1 elements
What field relies on sequencing nonbrain DNA?
GWAS (Genome-Wide Association Studies)
What is the ability of a cell to differentiate into other cell types?
Cell potency
Explanation: Cell potency is a cell’s capacity to differentiate into various cell types, with potency decreasing as development progresses.
What is the total capacity of a cell to form a complete embryo?
Totipotency
Explanation: Totipotency is the highest level of potency, where a cell can give rise to all cell types, including extraembryonic tissues, forming a complete organism.
What type of cell can differentiate into all three germ layers but not extraembryonic tissues?
Pluripotency
Explanation: Pluripotent cells can differentiate into any of the three germ layers (ectoderm, mesoderm, endoderm) but cannot form extraembryonic tissues.
Example of a pluripotent cell?
Embryonic stem cell
What type of potency allows differentiation into a restricted family of cell types?
the ability to form multiple, related cell lineages
Multipotency
Explanation: Multipotent cells can differentiate into a limited range of cell types within a specific tissue or lineage, such as blood cells from hematopoietic stem cells.
Give an example of a totipotent cell.
Zygote (fertilized egg)
Explanation: A zygote is totipotent, capable of forming all cell types, including extraembryonic tissues.
What type of stem cells can become blood cells but not neurons?
Hematopoietic stem cells
What is the ultimate test of nuclear potency?
Generating every cell type
What happens to nuclear potency over time?
It becomes restricted
Because as cells divide and specialize, gene expression becomes more regulated, restricting their ability to develop into different cell types.
Name the three main types of potency. (3)
- Totipotency
- pluripotency
- multipotency
What experiment tested nuclear potency using Rana pipiens eggs?
Blastula nucleus transplant
What was the first cloned mammal?
Dolly the sheep
Dolly was cloned from an adult mammary gland cell of a Finn Dorset sheep.
What type of cell was Dolly cloned from?
Mammary gland cell
The nucleus came from a differentiated mammary cell, proving somatic cell nuclear transfer worked.
What was used as the enucleated oocyte donor for Dolly?
Scottish Blackface sheep
The enucleated oocyte and the embryo were implanted into this breed.
Where was Dolly implanted for development?
Surrogate Scottish Blackface sheep
What is the process by which a cell becomes specialized in structure and function?
Cell differentiation
This creates cellular diversity
What is the result of cell differentiation?
Cellular diversity
What part of the genome is expressed during differentiation?
A portion of the genome
What type of genes are shared by all cells and always active in all cells?
Housekeeping genes
These are essential for basic cellular functions (e.g., GAPDH, β-actin).
What type of genes are unique to specific cell types?
genes are only expressed in specific cells or conditions
Luxury genes
These encode specialized proteins like hemoglobin (RBCs) and insulin (pancreatic cells).
What are undifferentiated cells with the ability to specialize into various cell types?
Stem cells
What type of stem cell can form a complete organism?
Totipotent stem cell
What type of stem cell can differentiate into cells of the three germ layers but not extraembryonic tissues?
Pluripotent stem cell
What is the potency of the inner cell mass of a blastocyst?
Pluripotent
Explanation: The inner cell mass of a blastocyst contains pluripotent cells that can form any tissue of the embryo but not extraembryonic structures.
What is the potency of hematopoietic stem cells?
Multipotent.
Explanation: Hematopoietic stem cells are multipotent, able to differentiate into various blood cell types but not other tissue types.
What are examples of pluripotent stem cells? (2)
- Embryonic stem cells (ESCs)
- induced pluripotent stem cells (iPSCs)
What type of stem cell can differentiate into a restricted group of related cells?
Multipotent stem cell
What type of stem cell gives rise to only one cell type?
type of potency do most adult cells have
Unipotent stem cell
What type of stem cell can differentiate into mesodermal-derived tissues like bone, cartilage, and fat?
Mesenchymal stem cells (MSCs)
Name the three germ layers. (3)
- Ectoderm
- mesoderm
- endoderm
Which germ layer gives rise to the gut, lungs, and liver?
Endoderm
Which germ layer forms muscles, blood, and bones?
Mesoderm
Which germ layer develops into skin and the nervous system?
Ectoderm
What is the relationship between cell differentiation and potency?
Differentiation decreases potency
What are genes that are constantly expressed in all cells for basic cellular functions?
Housekeeping genes
What is another name for housekeeping genes?
Constitutive genes
Where are housekeeping genes expressed?
All cells, all the time
What type of proteins do housekeeping genes produce?
Proteins essential for basic cellular functions
Give an example of a housekeeping gene. (3)
- Actin
- GAPDH
- ribosomal RNA genes
What are genes that are expressed only in specific cells or at specific times?
Luxury genes
What is another name for luxury genes?
Tissue-specific genes
Where are luxury genes expressed?
Only in specialized cells
What type of proteins do luxury genes produce?
Proteins related to specialized cell functions
Give an example of a luxury gene. (2)
- Hemoglobin (in red blood cells)
- myosin (in muscle cells)
In the earliest stage of development, known as the (1) ___ stage, the zygote is (2) ___, meaning it can differentiate into all cell types, including (3) ___ and extraembryonic structures necessary for implantation and early development. As the zygote undergoes (4) ___ and forms a (5) ___, its inner cell mass consists of (6) ___ cells. These pluripotent cells can give rise to any tissue within the body but can no longer form (7) ___ structures like the placenta. During (8) ___, cells become further specialized into (9) ___ stem cells, which are restricted to generating specific cell lineages. For example, (10) ___ stem cells can produce various blood cells but cannot differentiate into neurons or muscle cells. As differentiation progresses into late development and adulthood, most cells become (11) ___, committed to a single specialized function. This hierarchical restriction in cell potency ensures the formation of a highly organized and functional (12) ___ organism.
(1) zygote
(2) totipotent
(3) embryonic
(4) cleavage
(5) blastocyst
(6) pluripotent
(7) extraembryonic
(8) gastrulation
(9) multipotent
(10) hematopoietic
(11) unipotent
(12) multicellular
What is the selective activation of certain genes depending on time and space?
Selective gene expression
What is another name for selective gene expression?
Differential gene expression
How do genes behave in selective gene expression?
Some genes are highly active in specific tissues, while others are repressed
What is a process where specific genes increase in number without mitosis?
Selective gene amplification
What is the purpose of selective gene amplification?
To meet the synthetic demands of a developing cell
What is an example of selective gene amplification?
rRNA gene amplification in amphibian oocytes
During which stage of meiosis does selective gene amplification occur in amphibian oocytes?
Early diplotene stage
What is produced in large amounts due to selective gene amplification in amphibian oocytes?
Ribosomal RNA (rRNA)
concept suggests that development is directed by pre-existing structures and information, like maternal genes.
preformed
What do maternal genes and cytoplasm direct?
Early development
What species was cloned using amphibian nuclear transfer?
Rana pipiens
Rana pipiens (Northern leopard frog) was the species used in early cloning experiments.
involves transplanting nuclei from a blastula-stage embryo into enucleated eggs.
Amphibian cloning
In amphibian cloning, what was transplanted into enucleated frog eggs?
Blastula nuclei
Blastula-stage nuclei were inserted into frog eggs to test nuclear reprogramming.
Amphibian cloning
Who successfully cloned Rana pipiens? (2)
M. DiBerardino & N. Hoffner Orr
hey used nuclear transplantation to create a cloned frog named “Freddy.”
What is another term for selective gene expression?
Differential gene expression
Genes are turned on/off in different cells at different times.
Differential gene expression
What determines which genes are expressed? (2)
Time and space
Gene expression varies based on developmental phase and cell type.
What regulates gene repression in cells?
Selective gene repression
🔹 Some genes are silenced depending on the cell’s function.
What happens to genes not needed in certain cells?
Selective gene repression
What increases gene copies without mitosis?
This ensures a higher production of specific proteins when needed.
Selective gene amplification
Where does gene amplification occur in amphibians?
Additional Question: What gene is amplified?
Amphibian oocytes
Ribosomal RNA genes are amplified in the oocyte to support early development.
What is produced by gene amplification in amphibian oocytes?
Additional Question: What’s the significance of this product?
Ribosomal RNA (rRNA)
Extra rRNA is needed for rapid protein synthesis in early embryonic stages.
- Cell signaling in development
- One group of embryonic cells influences the fate of neighboring cells.
embryonic induction
- An organizer that induces neural tube formation
- It triggers the development of the brain and spinal cord in vertebrates.
Spemann-Mangold organizer
What must a responding tissue have to react to induction? It is the ability of a tissue to respond to an inducing signal.
Competence
What happens if embryonic induction fails?
Developmental defects
What are the components of embryonic induction? (3)
- Organizer or Inductor
- Evocator
- Responsive tissue
components of embryonic induction
What is the structure that induces the formation of another structure?
Organizer or Inductor
components of embryonic induction
What is released by the organizer or inductor?
a chemical substance
Evocator
components of embryonic induction
What tissue reacts to the inductor or evocator?
Responsive Tissue
The first major induction event in embryogenesis, where one tissue (e.g., the dorsal lip of the blastopore) directs the formation of the basic body axis.
primary embryonic induction
lays the foundation for the embryo’s structure.
Primary induction
refines and develops specialized tissues and organs, ensuring proper differentiation.
Secondary induction
What directs the formation of the basic body axis in primary induction?
Dorsal lip of the blastopore
Key example of primary embryonic induction?
Spemann-Mangold Organizer
Later induction events where one tissue influences the differentiation of another, leading to organogenesis.
Secondary Embryonic Induction
Key example of secondary embryonic induction?
Lens induction in vertebrates
In this process, the interaction between the optic vesicle (a part of the developing brain) and the surface ectoderm leads to the formation of the lens.
The optic vesicle signals the overlying ectoderm to thicken and form the lens placode.
This interaction exemplifies how one embryonic tissue influences the development of another, a hallmark of secondary induction.
What is established by primary embryonic induction? (2)
Body plan and nervous system
What does secondary embryonic induction drive?
Formation of specific organs
EMBRYONIC INDUCTION
What induces neurulation and axis development?
Notochord (chordamesoderm)
EMBRYONIC INDUCTION
acts as an organizer, releasing signals that direct the ectoderm to form the neural plate, which eventually develops into the nervous system
Notochord (chordamesoderm)
EMBRYONIC INDUCTION
Notochord acts as an __, releasing signals that direct the __ to form the __, which eventually develops into the __
- organizer
- ectoderm
- neural plate
- nervous system
A set of biological processes that mold the internal and external configuration of an embryo.
Morphogenesis
The process by which an organism develops its specific shape
Morphogenesis
Morphogenesis
Spatial and temporal distribution or organization of differentiated cells.
Example: Development of the arms – upper arm, lower arm, and fingers.
Pattern formation
Morphogenesis
Pattern formation is tightly regulated by __.
genetic control
Morphogenesis
What defines the morphogenetic blueprint/body plan? (2)
Main body axes and changes in form
Morphogenesis
Movement of cells relative to each other
Morphogenetic Movements
Give four (4) examples of morphogenesis.
- Limb formation
- Establishment of the fundamental body axes
- Branching of ducts within glands
- Formation of loops and whorls of fingerprints
Morphogenesis
Name the six processes involved in morphogenesis. (6)
- Cell proliferation
- Cell migration
- Cell aggregation/cell adhesion
- Secretion of extracellular substances
- Change in cell shape
- Localized cell death/apoptosis
- Characterized by rapid cell divisions, resulting in an increase in the number of cells.
- Occurs through mitotic divisions.
Cell proliferation
Cell proliferation occurs through what type of divisions?
Mitotic divisions
The process where individual cells or groups of cells move from one part of the embryo to another.
Cell migration
Cell migration can involve what type of movements? (2)
(1) Short migrations
(2) Massive dislocation
Examples of Cell Migration (2)
- Invagination
- Involution
Cell migration
What is an example of inward folding of a cell sheet?
Invagination
Cell migration
What describes the inward movement of an expanding outer layer?
Involution
a highly regulated programmed cell death process in multicellular organisms.
Apoptosis
Why is apoptosis essential?
It is essential for development, homeostasis, and removing damaged or unnecessary cells without triggering inflammation.
Apoptosis (Programmed cell death)
Initiation
* Triggered by intrinsic (mitochondrial) or extrinsic (death receptor) pathways.
* The __ is activated by DNA damage, oxidative stress, or lack of survival signals, leading to cytochrome c release from mitochondria.
* The __ is activated by death ligands (e.g., FasL) binding to cell surface receptors.
___
* Activation of caspases (proteolytic enzymes) that degrade cellular components.
* DNA fragmentation, cytoskeletal breakdown, and cell shrinkage occur.
__
* Apoptotic bodies are recognized and engulfed by phagocytes, preventing an immune response.
- intrinsic pathway
- extrinsic pathway
- Execution
- Phagocytosis
EXAMPLES OF APOPTOSIS IN DEVELOPMENT
What is an example of apoptosis in tadpoles?
Resorption of the tail
EXAMPLES OF APOPTOSIS IN DEVELOPMENT
What process occurs in the embryonic hand and feet?
Separation of digits
EXAMPLES OF APOPTOSIS IN DEVELOPMENT
What type of cells undergo selective death during development?
Neurons
APOPTOSIS DURING EMBRYOGENESIS
How does apoptosis help in mouse embryos?
Tissue sculpting
APOPTOSIS DURING EMBRYOGENESIS
What critical process is assisted by apoptosis in limb formation?
Eliminating unnecessary cells between fingers and toes.
APOPTOSIS DURING EMBRYOGENESIS
In tadpoles, what transformation involves apoptosis?
apoptosis in the tai
leading to its resorption as the amphibian transitions to a terrestrial lifestyle.
- A set of genes that specify the anteroposterior axis and segment identity during the early stages of metazoan development.
- Critical for properly placing certain embryonic structures like legs, antennae, and eyes.
Homeotic genes
HOMEOTIC GENES
- A set of genes that specify the __ and __ during the early stages of __ development.
- Critical for properly placing certain embryonic structures like __, __, and __.
- anteroposterior axis
- segment identity
- metazoan
- legs
- antennae
- eyes
A sequence of 180 base pairs that defines the homeotic genes. This codes for a 61-amino acid protein known as the homeodomain.
Homeobox
- Many __ found in Drosophila melanogaster are also present in vertebrates.
- These genes are expressed in highly specific sites and stages of development.
homeobox genes
a subset of homeotic genes, meaning all Hox genes are homeotic genes, but not all homeotic genes are Hox genes.
Hox genes
__ are grouped into four clusters: Clusters A-D, with each cluster containing 13 subfamilies or paralogous groups of genes.
Mammalian Hox genes
are genes within the same species that arose from a common ancestral gene through a gene duplication event, often evolving to perform different functions
Paralogous genes
are arranged in a strict order along their respective chromosomes, transcribed sequentially from the 5’ to 3’ end.
Paralogous genes
What factors contribute to the diversity of body forms among animals despite the conservation of homeobox genes? (5)
- Gene regulation
- Hox gene duplication
- evolutionary modifications
- Interactions with Other Developmental Genes
- Environmental Influences
Considered the “Rosetta Stone” of developmental biology.
Homeobox (DNA sequence)
Hox Genes
* Interpret positional information along the __ in both vertebrates and invertebrates.
* Vertebrates and invertebrates share similar __, __ in chromosomes, and patterns of __.
- anteroposterior body axis
- types
- gene order
- expression
- How many Hox gene clusters do vertebrates have?
- How many Hox gene clusters do invertebrates have?
- four
- one
What causes differences in body structures despite having similar Hox genes?
Differences in time and space of gene expression
What is the effect of gene duplication and divergence on protein functions?
Leads to different protein functions
What developmental feature is absent in invertebrates but present in vertebrates?
Neural crest cells (NCCs)
What structures do neural crest cells contribute to in vertebrates?
complex structures
e.g. skull, jaw, nervous system
Why do invertebrates have simpler, segmented body plans despite having Hox genes?
absence of neural crest
How do neural crest cells affect vertebrate body complexity?
Enable modification and diversification of structures
A chordate is defined as an animal belonging to the phylum Chordata, characterized by possessing, at some point during their development, have four distinctive physical characteristics that distinguish them from other taxa. What are those? (4)
- notochord
- dorsal hollow nerve cord
- pharyngeal slits
- post-anal tail
Origin of Chordates
Development Through Discrete & Interacting Modules
Modularity
Origin of Chordates
- Give an example of modularity at the cellular level.
- Give an example of modularity in morphogenetic fields.
- Give an example of modularity in organ rudiments.
- Inner Cell Mass (ICM) vs. Trophoblast
- Eye/limb development
- Vertebrate organ formation, imaginal discs in invertebrates
Origin of Chordates
Organisms are made of smaller units (modules) that form larger structures.
Modularity
Origin of Chordates
allows independent development of body parts without interfering with other functions.
Modularity
Origin of Chordates
Formation of redundant structures
Duplication
Origin of Chordates
Give three (3) examples of gene duplication.
- Globin genes
- TGF-β family
- Myo-D family
Origin of Chordates
What are examples of tissue-level duplication? (3)
- Cervical
- thoracic
- lumbar skeleton
Origin of Chordates
Enables structures to assume new roles over evolutionary time.
Divergence
Origin of Chordates
What happens to the original gene copy in divergence?
Retains its original function
Origin of Chordates
How does divergence contribute to evolution?
Mutated gene copies develop new roles
Origin of Chordates
Changes in timing of development
Heterochrony
Origin of Chordates
Retention of larval traits in adults
paedomorphosis
Origin of Chordates
Gene mutations affecting developmental timing
paedomorphosis
Origin of Chordates
Name three types of paedomorphosis. (3)
- Progenesis
- Neoteny
- Postdisplacement
Origin of Chordates
What type of heterochrony results in early sexual maturity with retained juvenile traits?
Progenesis
Origin of Chordates
What type of heterochrony results in slowed development of somatic traits?
Neoteny
Origin of Chordates
What type of heterochrony results in delayed onset of a trait’s development?
Postdisplacement
Origin of Chordates
In amphibians, paedomorphosis is commonly seen in species with aquatic larvae that retain their __ features into adulthood.
For example, some salamanders like the axolotl (Ambystoma mexicanum) exhibit __ adults, maintaining external gills and an aquatic lifestyle instead of __ into a terrestrial adult.
In contrast, other amphibians undergo __, transitioning from egg masses in water to aquatic larvae, and then developing into terrestrial adults with lungs and limbs.
- larval
- paedomorphic
- metamorphosing
- complete metamorphosis
Origin of Chordates
Exaggerated adult traits
Peramorphosis
more elaborate or extreme morphological features compared to ancestors.
Origin of Chordates
Name three types of peramorphosis. (3)
- Hypermorphosis
- Acceleration
- Predisplacement
Origin of Chordates
What type of peramorphosis extends growth periods in descendants?
Hypermorphosis
Origin of Chordates
What type of peramorphosis increases growth rate?
Acceleration
Origin of Chordates
What type of peramorphosis results in earlier trait development than in ancestors?
Predisplacement
Origin of Chordates
Differential growth rates of body parts
Allometry
Origin of Chordates
Involves altered sensitivity to growth factors or changes in growth factor production.
Allometry
Origin of Chordates
Allometry in Modularity (Dissociation) refers to how different body parts grow at __, leading to independent changes in shape or size. __ means that body structures develop as semi-independent units, and __ occurs when these modules follow different __ (growth) patterns.
- varying rates
- Modularity
- dissociation
- allometric
Origin of Chordates
What feature differentiates vertebrates from protochordates?
Neural Crest Cells (NCCs)
Origin of Chordates
What structures do cranial neural crest cells develop into? (3)
- Face
- skull
- branchial arches
Origin of Chordates
have a dorsal nerve cord and notochord but lack a well-defined head.
Protochordates
Origin of Chordates
contribute to the development of the face, skull, and branchial arches.
Cranial Neural Crest Cells
Origin of Chordates
allows for efficient predation, placing sensory structures near the mouth.
Cephalization
Origin of Chordates
What structures do protochordates have instead of neural crest cells? (2)
- Dorsal nerve cord
- notochord
Origin of Chordates
Repurposing genes for new functions
co-option
in evolution
Origin of Chordates
A single gene can specify different functions in various stages of development.
Co-option
Origin of Chordates
How can a single gene function in different developmental stages?
Specifies different roles in various tissues
Origin of Chordates
Examples of Co-option:
* __ used in the liver also function in the lens (as __).
* __ evolved from modified forelimbs with different functions (e.g., flippers, arms).
- Enzymes
- crystalline proteins
- Wings
Origin of Chordates
Give examples of co-option in vertebrate limb evolution (3)
- Flippers
- arms
- wings from forelimbs