Differential Gene Expression in Development
Differential Gene Expression in Development
• The Processes of Development
• The Role of Differential Gene Expression in Cell Differentiation
• The Roles of Cytoplasmic Segregation and Induction in Cell Determination
• The Role of ________ Formation in Organ Development
• The Role of Differential Gene Expression in Establishing Body Segmentation
The Processes of Development
• Development is a series of progressive changes in shape, form, and function that occur during an organism's life cycle.
• The earliest stage is called the ________ stage.
• Embryos typically acquire food directly or indirectly from a parent.
• Embryonic stages precede birth, and development continues until death.


The Processes of Development
• Development consists of growth, differentiation, and morphogenesis.
• Growth occurs by cell division and/or expansion.
• Repeated mitotic cell divisions increase cell number.
• Plants use cell elongation to increase size early in development.
• An animal embryo may consist of thousands of cells before it becomes ________
The Processes of Development
• Differentiation is the process in which cells become specialized structurally and functionally.
• When the embryo is small, each cell has the potential to develop in many different ways.
• As development proceeds, the possibilities available to individual cells narrow, until each cell's fate is ________ and the cell has differentiated.
The Processes of Development
• Morphogenesis is the shaping of the multicellular body and its organs.
• Morphogenesis results from ________ formation, the organization of ________ tissues into specific structures.
• In plants, movement of cells is limited, because cell walls adhere to each other and restrict movement.
• Animal cells can move, which is important during________
• Programmed cell death is essential in the orderly development of both plant and animals.
The Processes of Development
• Staining early embryo cells can produce fate maps revealing which adult structures derive from which part of the embryo.
• Moving a section of cells from a region of an early frog embryo to another region causes the cells to differentiate appropriately for the new—not the old—location.

The Processes of Development
• Cells do not generally maintain this developmental plasticity.
• Later in development, transplanted tissue from an embryo develops into the original type of tissue, regardless of its new location. At this point the cells are said to be determined.
• Determination is the commitment of a cell to a particular fate and is influenced by the extracellular environment and cell contents acting on the cell's genome.
• Determination is followed by differentiation.
The Role of Differential Gene
Expression in Cell Differentiation
• Differentiation results from differential gene expression.
• The fertilized egg is a ________ cell. That is, it can give rise to all other cell types of the organism.
• As development proceeds, cells lose their totipotency and become determined, and then differentiate.
The Role of Differential Gene
Expression in Cell Differentiation
• In some cases, ________ is irreversible.
• Red blood cells lose their nuclei as they mature.
• Tracheid cells die before they become functional water-transporting structures.
• In both, the absence of a functional nucleus explains their irreversibility.
The Role of Differential Gene
Expression in Cell Differentiation
• Sometimes differentiation is reversible.
• In general, differentiation in plant cells can be reversed more easily than differentiation in animal cells.
• A carrot root cell can be ________ into forming a whole new plant.
• The new plant is called a clone, because it is genetically identical to the original plant.
• The ability to generate an entire plant from a single cell is invaluable to biotechnology.


The Role of Differential Gene
Expression in Cell Differentiation
• Nuclear transplant experiments have shown that somatic cells contain the entire genome.
• When the nucleus of an unfertilized frog egg is replaced with the nucleus of a somatic cell from an early frog zygote, normal early embryos develop.
• These experiments led to two important conclusions:
§ No information is lost in the early stages of embryonic development (a principle known as genomic________
§ The cytoplasmic environment around a nucleus can modify its fate.
The Role of Differential Gene
Expression in Cell Differentiation
• In humans, the ________ of early embryonic cells permits genetic screening and in vitro fertilization:
§ A single cell is removed from an 8-cell human embryo.
§ The cell is tested for harmful genetic conditions.
§ Each remaining cell, being totipotent, can be stimulated to divide and form a normal embryo.
The Role of Differential Gene
Expression in Cell Differentiation
• In 1997, Ian Wilmut and colleagues starved sheep cells of nutrients, which arrested them in the G1 phase.
• These cells were fused with enucleated eggs from a different ewe and stimulated to enter the S phase.
• The early embryos were transplanted to the womb of a surrogate mother ewe. One lamb, named Dolly, survived to birth.
• The ultimate goal of sheep ________ is to develop transgenic (genetically modified) ewes that can produce drugs in their milk.



The Role of Differential Gene
Expression in Cell Differentiation
• Other mammals, including mice, cows, and goats, have been cloned by starving donor cells.
• Cloning is being done to preserve rare breeds and endangered species.
• Goats have been genetically engineered to produce useful proteins in their milk.
The Role of Differential Gene
Expression in Cell Differentiation
• A human tumor called a teratocarcinoma is an example of nuclear totipotency gone awry.
• In this type of tumor, a differentiated cell reverts to an undifferentiated stage and starts dividing, forming a tumor.
• Some cells in the tumor differentiate, forming kidney tubes, hair, or even teeth.
The Role of Differential Gene
Expression in Cell Differentiation
• Stem cells are ________ dividing cells that are found even in adults.
• A few examples are those found in bone marrow, skin, and intestine, tissues which need frequent cell replacement.
• In the body, stem cells have a limited ability to differentiate, but by manipulating the environment, stem cells can be made to differentiate.
The Role of Differential Gene
Expression in Cell Differentiation
• An example of a stem cell differentiation in response to altered environmental signals in mice:
§ Brain stem cells were transplanted to bone marrow, where they became bone marrow stem cells and produced blood cells.
§ The brain stem cells normally differentiate into nerve cells.
§ The reverse experiment resulted in bone marrow cells that differentiated into brain cells.
The Role of Differential GeneExpression in Cell Differentiation
• Stem cells with the greatest totipotency are the cells of early embryos.
• Stem cells can be removed from embryos and grown in the lab. They can be induced to differentiate using certain signal molecules.
• Treatment of mouse embryonic stem cells with a derivative of vitamin A causes them to form nerve cells. Other ________ factors induce them to form blood cells.
• In the future, manipulation and customizing of embryonic cells in culture may make new disease treatments possible.


The Role of Differential Gene
Expression in Cell Differentiation
• If embryonic stem cells are used to form tissues for a transplantation, genetic differences between the donor and recipient may result in rejection of the transplant.
• A procedure called therapeutic cloning has been proposed to address this problem.
• This process involves fusing a cell nucleus from the recipient with an enucleated egg cell from a female donor.
• These cells can be induced to differentiate into the desired tissue for transplantation without the risk of immune system rejection.
The Role of Differential Gene
Expression in Cell Differentiation
• There appears to be genome constancy or equivalence in all somatic cells.
• To understand what determines differential gene expression, myoblasts, precursors to muscle cells, have been studied.
• MyoD1 is the first gene switched on and it codes for a helix-loop-helix type transcription factor (MyoD1), a DNA-binding protein.
• MyoD1 protein binds to the promoters of muscle-specific genes, switching them on.
• It also binds to its own promoter, keeping itself in the myoblasts and their descendants.
The Roles of Cytoplasmic Segregation
and Induction in Cell Determination
• Chemical signals are involved in cell differentiation.
• Two overall mechanisms for producing these signals have been found:
§ Cytoplasmic ________ occurs when a factor is unequally distributed in the zygote and ends up in some daughter cells but not others.
§ Induction occurs when a factor is produced and secreted by some cells to induce other cells to differentiate.

The Roles of Cytoplasmic Segregation
and Induction in Cell Determination
• Polarity is an early event in development.
• Polarity includes the establishment of the most obvious differentiation, such as anterior–posterior ends and dorsal–ventral surfaces.
• When the egg divides, the resulting cells receive unequal amounts of materials that were distributed unevenly in the cytoplasm of the zygote.
• These differences in cytoplasmic makeup account for some of the earliest differentiation in embryos.


The Roles of Cytoplasmic Segregation
and Induction in Cell Determination
• An example of induction is the development of vertebrate eyes.
• The developing forebrain bulges out at both sides, forming optic vesicles.
• Signals from the optic vesicles induce the surface tissue to form the lens placodes, which differentiate into lenses.
• The developing lens influences the size of the optic cup, and also induces the surface tissue to develop into the cornea.

The Roles of Cytoplasmic Segregation
and Induction in Cell Determination
• The development of the nematode Caenorhabditis elegans has been studied extensively.
• Development from egg to larva takes just 8 hours and the adult stage is reached in 3.5 days.
• Development can be observed easily under low magnification because the body covering is transparent.
• The source of each of the 959 somatic cells of the adult form have been identified.

The Roles of Cytoplasmic Segregation
and Induction in Cell Determination
• During development of C. elegans, the anchor cell induces the vulva to form.
• The anchor cell controls the fates of six cells on the ventral surface through two molecular switches.
• Each of the six cells has three possible fates: it could become a primary vulval precursor, a secondary vulval precursor, or an epidermal cell.
• The anchor cell produces an inducer, which controls specific genes in responding cells.

The Roles of Cytoplasmic Segregation
and Induction in Cell Determination
• Much of development is controlled by molecular switches that allow a cell to take one of two alternative tracks.
• The challenge is to find these molecular switches and determine how they work.
The Role of Pattern Formation
in Organ Development
• Pattern formation is the spatial organization of a tissue or organism.
• It is inextricably linked to morphogenesis, the appearance of body form.
The Role of Pattern Formation
in Organ Development
• ________ is programmed cell death.
• It is caused by the activation of "death" genes.
• Of the 1,090 somatic cells produced by C. elegans, 131 cells are programmed to die.
• The genes ced-4 and ced-3 appear to control this process.
• A third gene, ced-9, codes for an inhibitor of ced-4. Therefore, when cell death is required, ced-3 and ced-4 are active and ced-9 is inactive.
The Role of Pattern Formation
in Organ Development
• Early human embryos have ________ between fingers and toes.
• Between day 41 and day 56, the cells of the webbing die, freeing individual fingers and toes.
• The enzyme caspase stimulates apoptosis and is homologous to ced-3.
• The protein in humans that inhibits apoptosis is bcl-2, which is similar to the protein encoded by the C. elegans gene ced-9.
• One form of cancer, follicular large-cell lymphoma, is caused by overexpression of bcl-2 in some white blood cells.

The Role of Pattern Formation
in Organ Development
• The identity of the whorls from which floral organs develop is determined by a group of genes.
• These genes have been best described in Arabidopsis thaliana.
• This plant has a small genome, produces many seeds, develops rapidly and it is easy to produce mutations.
• Normal Arabidopsis flowers have four whorls of organs. Homeotic mutants have the wrong organs in particular whorls.
The Role of Pattern Formation
in Organ Development
• Cells in the meristem differentiate to form the whorls through the expression of three organ identity genes.
• Whorl 1 expresses gene A; whorl 2 expresses genes A and B; whorl 3 expresses genes B and C; and whorl 4 expresses gene C.
• The products of these genes are transcription factors that form dimers.
• The composition of the dimer determines which other genes will be activated by the transcription factor.
• This is called combinatorial gene regulation.


The Role of Pattern Formation
in Organ Development
• Many transcription factors, including the A, B, and C proteins, have a DNA-binding domain called the MADS box.
• A gene called leafy controls the transcription of the ABC genes.
• Plants with a mutation that causes the underexpression of this gene make leaves but no flowers.

The Role of Pattern Formation
in Organ Development
• Certain cells in both plants and animals seem to "know" where they are within the organism. This is called positional information.
• Positional information usually comes in the form of a signal created by the________ ________ of a morphogen.
• There are two requirements for a signal to be considered a morphogen.
§ It must directly affect target cells.
§ Different concentrations of the signal must cause different effects.
The Role of Pattern Formation
in Organ Development
• A vertebrate limb develops from a round bud.
• The cells that become the bones and muscles of the limb must receive positional information, then organize to shape properly.
• A group of cells at the posterior base of the bud makes a morphogen called BMP2, whose gradient determines the anterior–posterior axis of the limb.
• Cells that get the highest dose of BMP2 make the thumb, and the smallest dose results in the little finger.
The Role of Differential Gene Expression
in Establishing Body Segmentation
• The adult Drosophila has different types of body segments:
§ The head is composed of several fused segments. There are three different thoracic segments, and eight abdominal segments.
§ The 13 seemingly identical segments of the Drosophila larva correspond to the specialized adult segments.
§ The process of differentiation begins with establishing the polarity of the embryo.
The Role of Differential Gene Expression
in Establishing Body Segmentation
• In Drosophila, unequal distribution of morphogens helps establish the basic coordinates.
• The morphogen molecules are products of specific maternal effect genes distributed by the mother to the eggs.
• The maternal effect genes are transcribed in the ovarian cells that surround the developing egg.
• It is their influence that determines the ________ and ________ axes of the embryo.
• Two maternal effect genes are bicoid, which controls anterior larval development, and nanos, which controls posterior larval development.


The Role of Differential Gene Expression
in Establishing Body Segmentation
• Segmentation genes influence the number, boundaries, and ________ of the body segments.
• Three classes of segmentation genes act one after another:
§ Gap genes organize large areas along the anterior–posterior axis.
§ Pair rule genes divide the embryo into units of two segments each.
§ Segment polarity genes determine the boundaries of anterior-posterior segments.
• Finally, homeotic genes are expressed along the length of the body and tell the segments what to become.

The Role of Differential Gene Expression
in Establishing Body Segmentation
• Development is the result of a sequence of changes, each one triggering the next.
• The unfertilized egg has stored mRNA that supports protein synthesis during early development.
• Cytoplasmic segregation of the stored mRNA provides positional information.
• mRNA for Bicoid protein is localized at the end of the egg destined to become the anterior end of the fly.
The Role of Differential Gene Expression
in Establishing Body Segmentation
• The Bicoid and Nanos proteins regulate the expression of the gap genes.
• Bicoid affects transcription, Nanos affects translation.
• High Bicoid at the anterior turns on a gap gene (hunchback), while simultaneously turning off another gap gene (Krόppel).
• Nanos at the posterior reduces hunchback.
• The gap genes control the expression of pair rule genes.
• The pair rule gene products control the segmentation polarity genes.
The Role of Differential Gene Expression
in Establishing Body Segmentation
• The homeotic genes specify the properties of each segment. Mutations in these genes produce changes in segment identity.
• One homeotic gene mutant (Antennapedia) causes legs to grow in the place of antennae. Bithorax causes an extra pair of wings to grow.
• Antennapedia and bithorax are mutations of adjacent gene clusters.
• The genes in these clusters are arranged on the chromosome in the same order as the segments they determine.

The Role of Differential Gene Expression
in Establishing Body Segmentation
• A 180-base-pair DNA sequence that is common to the Antennapedia and bithorax homeotic genes is called the homeobox.
• It codes for a 60-amino-acid sequence called the homeodomain, which binds DNA.
• The homeodomain has the helix-turn-helix motif.
• Each homeodomain recognizes a specific DNA sequence.
• Homeotic genes code for transcription factors.
Video 19.1 From egg to tadpole: Embryonic development in a frog, Xenopus
Video 19.2 Embryogenesis of a nematode worm, C. elegans
Video 19.3 Embryonic development in two zebrafish
Video 19.4 Blood vessel development
Animation 19.1 Embryonic Stem Cells
Animation 19.2 Early Asymmetry in the Embryo
Animation 19.3 Pattern Formation in the Drosophila Embryo