Effects of Mutation or Deletion


Table of contents

Wingless function in imaginal discs

Flies bearing a temperature sensitive allele of strawberry notch show a modest loss of wing margin tissue when raised at 23 degrees C. When such flies are also made heterozygous for a single copy loss of wingless, extensive loss of wing margin tissue is observed, suggesting a dominant synergistic interaction between wg and sno. In similar experiments, temperature sno combined with a single copy loss of vestigial also results in a dominant enhancement of wing margin defects; mutants exhibit extensive loss of wing margin tissue. Genetic combination of a weak allele of cut with a sno mutation shows extensive loss of wing margin tissue, suggesting a synergistic interaction between sno and cut. These results are reminiscent of the interaction of Notch with wg, vg and ct and further extablish that sno, like Notch, has a crucial role in the establishment of D/V boundary fate by participating in a common genetic pathway that regulates wing margin-specific genes. In addition to the wing margin defects, sno mutants also exhibit thickening of wing veins. This is likely to be a secondary consequence of defective wing pouch development caused by improper D/V boundary specification. This same phenotype can also be seen in some of the other D/V boundary genes, such as vestigial and Serrate (Majumdar, 1997).

Each of the somatic cell types of the gonad arises from mesodermal cells that constitute the embryonic gonad. The functions of the homeotic genes abdominal A and Abdominal B are both required for the development of gonadal precursors. Each plays a distinct role. abd A activity alone specifies anterior somatic gonadal precursor (SGP) fates, whereas abd A and Abd B act together to specify a posterior subpopulation of gonadal precursors. Once specified, gonadal precursors born within posterior parasegments move to the site of gonad formation. clift has been identified as a regulator of Drosophila gonadogenesis. When cloned, clift turned out to be identical to eyes absent. Mutations in clift abolish gonad formation and produce female sterility. Just as with abdominal A, clift is expressed within SGP as these cells first form, demonstrating that 9-12 cells are selected as SGP within each of three posterior parasegments at early stages in gonadogenesis. Using clift as a marker, it has been shown that the anteroposterior and dorsoventral position of the somatic gonadal precursor cells within a parasegment are established by the secreted growth factor Wingless, acting from the ectoderm, coupled with a gene regulatory hierarchy involving abd A within the mesoderm. While loss of wg abolishes gonadal precursors, ectopic expression expands the population such that most cells within lateral mesoderm adopt gonadal precursor fates. Initial dorsoventral positioning of somatic gonadal precursors relies on a regulatory cascade that establishes dorsal fates within the mesoderm. tinman appears to mediate the role of ectodermally expressed decapentaplegic; in tinman mutants few or no SGP cells are detected. clift expression is subsequently refined through negative regulation by bagpipe, a gene that specifies nearby visceral mesoderm. Thus, these studies identify essential regulators of gonadal precursor specification and differentiation and reveal novel aspects of the general mechanism whereby somatic gonadal cell fate is allocated within the mesoderm (Boyle, 1997).

Genetically mosaic flies were constructed which lack a functional dpp or wg gene in portions of their leg epidermis, and the leg cuticle was examined for defects. Although dpp has been shown to be transcribed both ventally and dorsally, virtually the only dpp-null clones that affect leg anatomy are those which reside dorsally. Conversely, wg-null clones only cause leg defects when they reside ventrally. Both findings are consistent with models of leg development in which the future tip of the leg is specified by an interaction between dpp and wg at the center of the leg disc. Null clones can cause mirror-image cuticular duplications, confined to individual leg segemnts. Double-ventral, mirror-image patterns are observed with dpp-null clones, and double-dorsal patterns with wg null clones. Clones that are doubly mutant (null for both dpp and wg) manifest reduced frequencies for both types of duplications. Duplications can include cells from surrounding non-mutant territory. Such nonautonomy implies that both genes are involved in positional signaling, not merely in the maintenance of cellular identities. However, neither gene product appears to function as a morphogen for the entire leg disc, since the effects of each gene's null clones are restricted to a discrete part of the circumference. Interestingly, the circumferential domains where dpp and wg are needed are complementary to one another (Held, 1996).

Dominant mutations provide invaluable tools for Drosophila geneticists. The dominant eye mutation Glazed (Gla), described by T. H. Morgan more than 50 years ago, has now been analyzed. Gla causes the loss of photoreceptor cells during pupal stages, in a process reminiscent of apoptosis, with a concomitant overproduction of eye pigment. Ommatidial bristles are missing in the anterior-ventral part where the Gla mutant phenotype is generally more pronounced. Most of the eye appears to consist of pigment cells since pigment granules are highly abundant over the entire surface. Pigment cell shape is predominantly rectangular, suggesting that most of the pigment cells have adopted a tertiary rather than a secondary pigment cell fate. It is only between 30 and 40 h of pupal development that mutant and wild-type discs differ. In pupal discs older than 40 h, no more Elav-positive photoreceptor cells are found in mutant clones. This phenotype is very similar to that caused by the loss of D-APC, a negative regulator of Wingless (Wg) signal transduction. However, genetic analyses reveal that the Gla gain-of-function phenotype can be reverted to wild-type. By generating a P-element-induced revertant of Gla, it has been demonstrated that Gla is allelic to wg. The molecular lesion in Gla indicates that the insertion of a roo retrotransposon leads to ectopic expression of wg during pupal stages. The Gla phenotype is similar to that caused by ectopic expression of Wg driven by the sevenless (sev) enhancer. In both cases Wg exerts its effect, at least in part, by negatively regulating the expression of the Pax2 homolog sparkling (spa). Ectopic expression of wg in sev-wg discs occurs early enough to block the formation of interommatidial bristles by reducing spa expression. In Gla mutants, however, ectopic wg may be expressed too late to interfere with spa expression in the bristle precursor cells, and the sensory organ precursors of interommatidial bristles are formed normally. Ectopic Wg might inhibit a process that normally protects the developing photoreceptor cells from undergoing programmed cell death. Gla represents not only the first dominant allele of wg, but it may also be the first allele ever described for wg (Brunner, 1999).

eyelid antagonizes wingless signaling during Drosophila development and affects patterning of the eye imaginal disc. eyelid was originally isolated as a suppressor of a dominant mutation in the rough gene roughDOMINANT. Eye discs from roDOM third-instar larvae display a so-called "furrow-stop" phenotype, the hallmarks being the unusual presence of mature ommatidia that contain a full complement of photoreceptor cells in the anterior-most ommatidial row, and the loss of dpp expression in the furrow. Surprisingly, an analysis of eye discs from larvae heterozygous for both roDOM and eyelid reveals that the observed increase in eye size is not attributable to relief of the roDOM-induced block to furrow progression in the central region of the disc. Rather, photorecepter differentiation reinitiates at the dorsal and ventral edges of these discs. This produces two ommatidial fields, each preceded by decapentaplegic expressing furrows, which move anteriorly, presumably fusing later along the midline. The mechanism of roDOM suppression by eyelid suggests that eyelid is most critical at the lateral edges of the disc, regions in which wingless has been shown to inhibit precocious differentiation. A reduction of wingless has the opposite effect on roDOM, reducing the eye size and the extent of photoreceptor differentiation along the disc margins. Thus eyelid mutations show opposite effects to those of wingless mutations, suggesting that eyelid may normally function as an antagonist of wg signaling (Treisman, 1997).

Clones of eyelid mutant cells induced in the wing disc also produce pattern alterations suggestive of antagonism to wingless. One effect of clones produced early in development is the transformation of the posterior notum into a partial second wing. These wings have a reversed anterior-posterior polarity; their most clearly differentiated structure is an alula produced consistently at their anterior margin. This transformation is the reverse of that produced by the wingless1 mutation, which transforms the wing into a duplicated notum, and is similar to that produced by overexpressing wingless, decapentaplegic or optomotor-blind in the notum. Clones induced later in wing development are associated with ectopic wing margin bristles. Many or all of these ectopic bristles are not mutant for eld but they are sometimes seen to form adjacent to eld clones. Ectopic bristle formation is restricted to the dorsal surface of the wing within the anterior compartment, and is observed most commonly near the wing margin in tufts of the bristle type appropriate to their postion along the anterior-posterior axis. Ectopic wing margin bristles are also produced in clones mutant for shaggy. However, shaggy clones show neither the non-autonomy nor the positional restrictions observed for eld clones. These results suggest a cell non-autonomous role for eld in wing patterning (Treisman, 1997).

The Drosophila retina is made from hundreds of asymmetric subunit ommatidia arranged in a crystalline-like array, with each unit shaped and oriented in a precise way. One explanation for the precise cellular arrangements and orientations of the ommatidia is that they respond to two axes of polarized information present in the plane of the retinal epithelium. Earlier work has shown that one of these axes lies in the anterior/posterior(A/P) direction and that the polarizing influence is closely associated with the sweep of the Hedgehog-dependent morphogenetic wave. Evidence is presented for a second and orthogonal axis of polarity: this signal can be functionally separated from the A/P axis (see Specification of the eye disc primordium and establishment of dorsal/ventral asymmetry). The polarizing information acting in this equatorial/polar axis (Eq/Pl) is established in at least two steps -- the activity of one signaling molecule functions to establish the graded activity of a second signal. Ectopic Wg expression results in two significant effects. (1) Clones are generated with associated polarity inversions. (2) Although significant changes in retinal polarity are associated with the clones, the distance over which the effect is exerted is restricted to from between 7 to 2 ommatidial rows. Ectopic Wg clones have two distinct features with respect to their polarity effects: (1) the aberrant polarity is asymmetrically distributed in relation to the clone (greater changes in polarity occur in polar positions relative to the center of the clone), and (2) the potency of the Wg-expressing clones to induce polarity reversals show maximial polarity-reversal effects at the equator and minimal effects at the pole (Wehrli, 1998).

Other genes downstream of wingless also appear associated with eye Eq/Pl polarity. The product of the arrow (arr) gene has been placed in the Wingless pathway based on a number of criteria:

To a variable extent, clones of armadillo and dishevelled induce polarity inversions on their equatorial side. The critical observation is that mutations in these recognized transducers of the Wg signal induce non-autonomus effects, consistent with their regulating the activity of a sendary signaling factor. This secondary signal is termed factor-X. Not only do arr, arm and dsh clones specifically affect the equatorial side, they are also more potent in achieving this at the pole than the equator. Thus it is inferred that factor-X activity is graded in the Eq/Pl axis but there is insufficient information to determine whether the activity is high at the equator and low at the poles, or vice-versa (Wehrli, 1998).

Neuronal differentiation in the Drosophila retinal primordium (the eye imaginal disc) begins at the posterior tip of the disc and progresses anteriorly as a wave. The morphogenetic furrow (MF) marks the boundary between undifferentiated anterior cells and differentiating posterior cells. Anterior progression of differentiation is driven by Hedgehog, synthesized by cells located posterior to the MF. hedgehog , which is expressed prior to the start of differentiation along the disc's posterior margin, also plays a crucial role in the initiation of differentiation. Using a temperature-sensitive allele it has been shown that hh is normally required at the posterior margin to maintain the expression of both decapentaplegic (dpp) and the proneural gene atonal. In addition, ectopic differentiation driven by ectopic dpp expression or loss of wingless function requires hh. Consistent with this is the observation that ectopic dpp induces the expression of hh along the anterior margin even in the absence of differentiation. Taken together, these data reveal a novel positive regulatory loop between dpp and hh that is essential for the initiation of differentiation in the eye disc (Borod, 1998).

Dual role for Drosophila epidermal growth factor receptor signaling in early wing disc development: The mechanisms by which wg and vn specify alternate cell fates in the early wing disc, wing, or notum are antagonistic

Cell fate decisions in the early Drosophila wing disc assign cells to compartments (anterior or posterior and dorsal or ventral) and distinguish the future wing from the body wall (notum). Egf receptor signaling stimulated by its ligand, Vein, has a fundamental role in regulating two of these cell fate choices: (1) Vn/EGFR signaling directs cells to become notum by antagonizing wing development and by activating notum-specifying genes; (2) Vn/EGFR signaling directs cells to become part of the dorsal compartment by induction of apterous, the dorsal selector gene, and consequently also controls wing development, which depends on an interaction between dorsal and ventral cells (Wang, 2000).

To determine when Vn/EGFR signaling is required for notum development, the temperature-sensitive alleles, Egfrtsla and vntsWB240 were used. Inactivating Vn/Egfr activity during the second instar (a 24 hr period) causes loss of the notum. The wing develops but shows pattern abnormalities characteristic of vn hypomorphs. Later shifts during the third instar does not cause loss of the notum. This demonstrates that Vn/Egfr activity is required for notum development in the second instar when wg is required to specify the wing. Thus, Vn and Wg appear to have complementary roles and this relationship has been examined by following their expression in mutants (Wang, 2000).

In second instar wild-type wing discs, wg is expressed distally in a wedge of anterior ventral cells and vn is expressed proximally. In vn null mutants, the initiation of wg expression is normal as is expression of its target gene optomotor-blind (omb). In wg mutants, however, there is a dramatic and early expansion of vn expression to include distal cells, presaging the development of these cells as an extra notum. Together these results suggest that Vn has an early role in establishing the notum and that Wg signaling is required to define a distal domain that is reduced in Egfr activity to allow wing development (Wang, 2000).

It is suggested that the mechanisms by which wg and vn specify alternate cell fates in the early wing disc, wing, or notum are antagonistic. This is based on the observation that loss of Wg results in the spread of vn expression and the supposition that the resulting ectopic Egfr activity causes loss of the wing and a double notum phenotype. Further evidence that Vn/Egfr signaling represses wing development comes from the results of misexpressing a constitutive receptor, Egfrlambdatop4.2, in the presumptive wing. In these flies, the wing is reduced to a stump covered with sensilla characteristic of the proximal wing (hinge) region and expression of the wing specific gene vestigial (vg) is repressed. Ectopic notal structures also form from the ventral pleura. The ability of ectopic Egfr signaling to suppress wing development is cell autonomous because clones of cells expressing Egfrlambdatop4.2 lack vg expression. In adult wings these clones produced outgrowths lacking wing characteristics but are otherwise difficult to characterize (Wang, 2000).

Although vn expression expands in wg mutants, no reciprocal spread of wg expression was observed in vn mutants that would have been indicative of a double wing phenotype. However, when Vn/Egfr signaling is inhibited in the notum by expressing a ligand antagonist (Vn::Aos-EGF) under the control of ptc-Gal4, ectopic wings are induced in ~10% of the flies. This result demonstrates that presumptive notal tissue can be transformed to wing by reducing Egfr signaling. However, the transformation occurs only when Egfr signaling is reduced in a subset of cells, rather than all cells in the notum (as in a vn mutant). This may reflect the indirect requirement for Egfr activity to also promote wing development (Wang, 2000).

The loss of notum phenotype is characteristic of vn hypomorphs but in null vn alleles and some Egfr alleles both the wing and notum primordia fail to develop and the wing discs remain tiny. Thus, although ectopic activity of Egfr in the distal disc represses wing development, the pathway is nevertheless normally required for wing development. Using the temperature-sensitive Egfrtsla allele it was found that this requirement is restricted to the period from mid-first to mid-second instar. Key genes involved in wing development that are active at this time include wg and apterous (ap). ap is expressed in dorsal cells and acts as a selector gene to divide the disc into dorsal and ventral compartments. Regulation of Notch ligands by Ap leads to Notch signaling at the DV boundary and the formation of an organizer for wing outgrowth and expression of the wing-specific transcription factor vg (Wang, 2000 and references therein).

Of these two candidates, wg and ap, it seemed unlikely that wg was the key gene affected by Egfr signaling from mid-first to mid-second instar because wg expression is normal in vn mutants at mid-second instar. However, later in the second instar, wg expression normally expands to fill the growing wing pouch and it was noted that in vn mutants, wg expression fails to undergo this expansion. A similar defect in wg expression is seen in ap mutants consistent with Ap function being impaired in vn mutants. Remarkably, ap expression is completely absent in second instar vn mutant discs. Thus, loss of Ap can explain why there is no wing in vn mutants. This is supported by the demonstration that ectopic ap is capable of rescuing wing development in vn mutants (Wang, 2000).

Several additional lines of evidence demonstrate that ap is a cell autonomous target of Vn/Egfr signaling and that this relationship exists only transiently in early wing development: (1) ap expression partially overlaps that of vn in the second instar; (2) ap can be induced ectopically in ventral clones misexpressing an activated form of the receptor, Egfrlambdatop4.2; (3) Egfrtsla mutant clones generated in the first instar show autonomous loss of ap expression, whereas clones generated in the second instar express ap normally. Finally, loss of Egfr activity in whole discs from mid-first to mid-second instar results in complete loss of ap expression, whereas ap is still expressed in discs from larvae given a temperature shift slightly later during the second instar (Wang, 2000).

The results described here suggest that division of the early wing disc into presumptive wing and body wall regions is defined by the action of two secreted signaling molecules, Wg and Vn. wg, a pro-wing gene, is required to repress vn expression, which at high levels antagonizes wing development. Antagonism between Wg and Egfr signaling has also been demonstrated in segmental patterning of the embryo and in development of the head and third instar wing pouch, suggesting such a relationship between these pathways may be a common theme in a number of cell fate choices. Finding that one of the main functions of Wg in early wing specification is to repress Vn/Egfr signaling in the distal region of the early disc raises the question as to whether this is the only role of Wg in wing specification and hence if wing-cell fate can be specified in the absence of both signals. This seems unlikely, because nubbin, an early wing cell marker, is not misexpressed proximally in a vn mutant, where cells would lack both signals (Wang, 2000).

Vn/Egfr signaling promotes development of the notum by maintaining its own activity through transcriptional activation of vn itself, and also promotes expression of ap. Thus, both vn and ap appear to be targets of Egfr signaling, but the domain of ap is clearly wider than that of vn, indicating that ap can be activated at a lower signaling threshold than vn. Vn is a secreted molecule and thus could generate a gradient of Egfr activity. This provides an explanation for how Egfr signaling can regulate both wing and notum development: vn autoregulation and notum development requires high Egfr signaling activity while ap expression and subsequent wing development requires lower signaling activity (Wang, 2000).

Interestingly, vertebrate Egfr and its ligands are expressed in the chick limb bud in a pattern that appears to overlap with the vertebrate ap homolog Lhx2, and these factors are required for limb outgrowth in the chick. In light of the present results it will be important to determine whether Egfr signaling controls Lhx2 expression and thus plays a role in regulating outgrowth of the vertebrate limb. These results may also have implications for the evolution of insect wings. If the control of body wall development by Egfr signaling is ancestral, and comparative analysis of other arthropods will be required to assert this, then one of the first steps towards evolution of wings could have occurred when Egfr signaling assumed control of ap (Wang, 2000).

A polarity field is established early in the development of the Drosophila compound eye

The photoreceptors within the ommatidia of the Drosophila compound eye form a trapezoid. This occurs in two chiral forms in the dorsal and ventral half of the eye. Ommatidia in the dorsal half of the compound eye are oriented with the R3 photoreceptor cell dorsal and anterior, the R7 photoreceptor being ventral. Ommatidia in the ventral half of the eye are inverted. This asymmetry is established during the progression of the morphogenetic furrow as it moves across the epithelium of the eye imaginal disc from posterior to anterior. As the furrow moves it lays down a new column of ommatidial clusters roughly once every 2 hours. However, the ommatidial clusters in one column are not initiated at the same moment, i.e. the first cluster is formed at the center of the furrow (the midline or future equator); subsequent clusters are formed dorsal and ventral to this at about 10-min intervals. This point at the center of the furrow is known as the firing center, an inductive node which transmits information in two directions, i.e. induction of new ommatidial columns towards the anterior and induction of new ommatidial clusters towards the dorsal and ventral poles (Reifegerste, 1997 and references).

Two manipulations were used to induce ectopic ommatidia, in combination with molecular markers for specific positions in the retinal field. Ectopic furrows were generated by shift of winglessl-12 homozygotes to a nonpermissive temperature for 48 hours. Loss of function patched clones were used to induce ectopic furrows, because patched functions as a negative regulator of furrow initiation. Ectopic morphogenetic furrows induced on the eye field margin (or midline) and those induced in the body of the field have different consequences for the establishment of retinal polarity. Ectopic clones on the midline or margin is associated with ectopic expression of early markers of retinal field polarity, while ectopic expression of clones that do not lie on the margin or midline are not associated with such markers. In cases where clones fail to induce ectopic furrows, such clones can re-specifiy polarity field markers if they lie on the margin or midline. Photoreceptor cells in the ectopic ommatidia formed by patched clones produce axons that do not always follow the normal polarity field toward the posterior and the optic stalk. In cases in which a field of ectopic ommatidial clusters is still disconnected from those formed by the endogenous field, the ectopic clusters do not find a path to the optic stalk, but converge on the center of their local field. This phenomenon may be similar to the development of axon tracts in the insect central nervous system and is consistent with a homophilic axon guidance model (Reifegerste, 1997).

An early equatorial model for retinal polarity is proposed. In this model, early events establish the dorsal/ventral polarity of the retinal field and establish the midline/equator; only later does the furrow initiate and then the firing center follows the midline, but does not form it. This idea is derived from the observation that markers of polarity are expressed in specific parts of the retinal field before furrow initiation. Thus events that initiate furrow movement on the margin or the midline re-specify the field markers, while those that lie off the margin or the midline do not. Evidence for a preexisting field of positional information comes from the characterization of the homeoprotein mirror, which seems to be involved in the establishment of retinal polarity. The gene four-jointed shows a graded expression in equatorial-polar direction along the equator in third instar eye imaginal discs. Four jointed is a putative cell surface or secreted protein. Another candidate for an equatorial signal is Wingless itself. Wingless could act early to signals from the margins inwards. A second signal from the midline could be induced by early Wingless. Mosaic clones for frizzled affect retinal polarity; these have a domineering non-autonomy on adjacent wild type tissue. Proteins similar to Frizzled have been shown to act as Wnt receptors (Reifegerste, 1997 and references).

The Drosophila Jak kinase Hopscotch is required for multiple developmental processes in the eye

Jak kinases are critical signaling components in hematopoiesis. While a large number of studies have been conducted on the roles of Jak kinases in the hematopoietic cells, much less is known about the requirements for these tyrosine kinases in other tissues. Loss of function mutations in the Drosophila Jak kinase Hopscotch (Hop) were used to determine the role of Hop in eye development. Hop is required for cell proliferation/survival in the eye imaginal disc, for the differentiation of photoreceptor cells, and for the establishment of the equator and of ommatidial polarity. These results indicate that hop activity is required for multiple developmental processes in the eye, both cell-autonomously and nonautonomously (Luo, 1999).

Mutations in both wingless signaling components and hop affect equator formation nonautonomously, suggesting that a secondary diffusible signal exists downstream of them. However, their phenotypes are different in two ways: (1) mutants in wingless pathway components affect polarity on the equatorial side of the clone, whereas in hop mutant clones the polarity is reversed on the polar side, and (2) an ectopic equator forms in the center of a wingless pathway mutant clone, whereas such an ectopic equator forms outside a hop clone. The wg-signaling data suggest that (in addition to its indirect role on fng expression and thus Notch activation) Wg signaling controls a diffusible factor as a secondary signal that is either up- or down-regulated (depending on whether it is a positive or negative factor. The nonautonomy of the hop mutant clones also suggests that a secondary diffusible signal acts downstream of Hop. However, it might act in the opposite direction from the one regulated by Wg due to the opposite influence on polarity by hop- and wg-signaling components, respectively. The full understanding of the nature of the Wg- and Hop-associated phenotypes, and of their potential interactions and secondary signals activated, will only be possible when the presumptive secondary signals are identified (Luo, 1999)

Regulation of dally, an integral membrane proteoglycan, and its function during adult sensory organ formation of Drosophila

In Drosophila, imaginal wing discs, Wg and Dpp, play important roles in the development of sensory organs. These secreted growth factors govern the positions of sensory bristles by regulating the expression of achaete-scute (ac-sc), genes affecting neuronal precursor cell identity. Earlier studies have shown that Dally, an integral membrane, heparan sulfate-modified proteoglycan, affects both Wg and Dpp signaling in a tissue-specific manner. dally is required for the development of specific chemosensory and mechanosensory organs in the wing and notum. dally enhancer trap is expressed at the anteroposterior and dorsoventral boundaries of the wing pouch, under the control of hh and wg, respectively. dally affects the specification of proneural clusters for dally-sensitive bristles and shows genetic interactions with either wg or dpp signaling components for distinct sensory bristles. These findings suggest that dally can differentially regulate Wg- or Dpp-directed patterning during sensory organ assembly. For pSA, a bristle on the lateral notum, dally shows genetic interactions with iroquois complex (IRO-C), a gene complex affecting ac-sc expression. Consistent with this interaction, dally mutants show markedly reduced expression of an iro::lacZ reporter. These findings establish dally as an important regulator of sensory organ formation via Wg- and Dpp-mediated specification of proneural clusters (Fujise, 2001).

dally cooperates with Wg to form the wing margin structures. Ac expression is severely decreased in dally mutants, supporting the idea that dally serves as a component of the Wg receptor complex to induce AS-C expression at the prospective wing margin. Taken together, these observations indicate that dally is a target gene of Wg signaling pathway, and at the same time, it mediates the same signaling, suggesting that dally is involved in a positive feedback loop of Wg signaling at the D/V boundary of the wing pouch. Frizzled-2, the Wg receptor, is down-regulated by Wg signaling at the D/V boundary. Dally, a putative Wg coreceptor, may also participate in the feedback circuits of Wg signaling, as has been suggested for Fz2 (Fujise, 2001).

Wg and Dpp have been shown to affect prepatterning of sensory organs by governing the expression of proneural genes, such as ac-sc. dally has been shown to affect the signaling levels of either Wg or Dpp. Therefore, an examination was made to determine whether dally affects sensory organ formation via either Wg or Dpp signaling pathways. Genetic experiments provided evidence that, in the prospective notum region of the wing disc, dally selectively influences Wg signaling to form the pPA bristle and Dpp signaling to form the pSA and DC bristles. It is particularly intriguing that, during development of DC macrochaetae, dally genetically interacts with only Dpp signaling, while the formation of these bristles requires both Wg and Dpp activities. It has been indicated that the A/P coordinates of the DC cluster are limited by Dpp signaling. In dally homozygous wing discs, the DC cluster is apparently shorter in the A/P coordinates compared with wild-type discs, suggesting that dally regulates Dpp signaling activity to limit the A/P length of the DC cluster. What are the mechanisms that can account for the selective interactions of dally and specific growth factor signaling? One obvious interpretation of genetic experiments on DC macrochaetae is that differences in dose effects between dpp and wg are responsible for the apparent specificity. It is also possible that the ligand-specificity of Dally is controlled at the cellular level through modification of heparan sulfate structures (Fujise, 2001).

The tissue polarity gene nemo carries out multiple roles in patterning during Drosophila development

The murine Nemo homolog Nlk has been implicated in regulating Wnt signaling by repressing the Arm/ß-Catenin-TCF complex, a component of Wingless signaling. Whether such an interaction occurs in flies during wing vein formation was examined. The extra vein phenotypes observed in nmo mutant wings are very similar to those that have been previously described as resulting from overexpression of Armadillo and both vertebrate ß-catenin and plakoglobin in the wing. In addition, ectopic veins are produced as a result of ectopic wg and dsh expression. Constitutively active Armadillo (UAS-Arms10) expressed using the 1348-Gal4 driver leads to the formation of moderate ectopic veins emanating from the PCV, in addition to more severe ectopic veins along LII. These are both regions of the wing that are sensitive to nmo mutations and where similar ectopic veins are observed in nmoadk. The phenotypes seen with overexpression of wg and arm are consistent with the theory that Nemo is a negative regulator of Wingless signaling since loss of nemo mimics extra veins seen with overexpression of arm and wg (Verheyen, 2001).

Overexpression of both wildtype mouse Lef-1 (a TCF homolog) and a constitutive repressor form of dTCF (Pangolin) results in dominant negative phenotypes. The constitutive repressor form of dTCF (UAS-dTCFDeltaN) is unable to bind Arm and represses wg-dependent gene expression. These findings suggest that expression of wildtype dTCF (UAS-dTCFwt) somehow interferes with a wingless-targeted transcription factor in a dominant negative way. Consistent with this, it is found that ectopic expression of UAS-dTCFwt using vestigial-Gal4 results in defects in the posterior wing margin, a phenotype seen with loss of wg signaling. Ectopic expression of the UAS-dTCFDeltaN using the 1348-Gal4 driver is lethal. However, homozygosity for nmoadk is able to rescue the lethality and the flies that emerged had reduced ectopic wing veins. This finding can be interpreted by taking into account the dual roles TCF plays in the nucleus. In nmoadk mutants, the negative regulation of endogenous dTCF may be reduced, leading to more wg-dependent signaling and the induction of extra veins similar to those seen with constitutive Arm expression. Expression of UAS-dTCFDeltaN in the nmoadk background most likely interferes with the de-repressed endogenous dTCF and block the induction of extra veins seen in nmoadk (Verheyen, 2001).

Genetic requirements of vestigial in the regulation of Drosophila wing development

The gene vestigial has been proposed to act as a master gene because of its supposed capacity to initiate and drive wing development. The ectopic expression of vestigial only induces ectopic outgrowths with wing cuticular differentiation and wing blade gene expression patterns in specific developmental and genetic contexts. In the process of transformation, wingless seems to be an essential but insufficient co-factor of vestigial. vestigial ectopic expression alone or vestigial plus wingless co-expression in clones differentiate 'mixed' cuticular patterns (they contain wing blade trichomes and chaetae characteristic of the endogenous surrounding tissue) and express wing blade genes only in patches of cells within the clones. In addition, these clones, in the wing imaginal disc, may cause autonomous as well as non-autonomous cuticular transformations and wing blade gene expression patterns. These non-autonomous effects in surrounding cells result from recruitment or 'inductive assimilation' of vestigial or wingless-vestigial overexpressing cells (Baena-López, 2003).

The notion of 'master gene', as applied to the gene eyeless, corresponds to a gene that by itself would trigger a developmental program that is independent of the tissue where it is expressed. Although this definition has been applied to vg, the present results indicate otherwise. The ectopic expression of vg elicits certain characteristics of 'wing blade' development but is not sufficient for a complete transformation. The effect of vg depends on the time and genetic context of the tissue where it is overexpressed. These results reveal a strong dependence of vg on wg to initiate a wing blade developmental pathway. Wg by itself does not lead to tissue transformations. This cooperative effect between wg and vg remains insufficient in all tissues analyzed, suggesting the existence of additional genes necessary to initiate and drive wing development. The molecular mechanisms that underlie the interaction between wg pathway and vg are not known. However, the co-expression of vg with a construct of armadillo (arm) (transcriptional effector of wg pathway) using vg-G4 fails to promote the transformation of eye tissue. This result suggests that the interaction of wg and vg takes place upstream of arm and, therefore, outside of the cell nucleus. Whereas vg requires high levels of wg expression to initiate wing development, the clones of vg overexpression contain in later stages, low or null levels of wg expression. Moreover, wg-vg co-overexpression clones can also show low levels of wg, even when wg is also mobilized in G4 territories or in Flip-out clones. These results suggest that vg may indirectly reduce wg expression once wing development is already initiated, and may explain why the transformed tissue in vg clones does not contain wing margin cuticular elements. The late repression of wg seems to be important to specify territories of the wing blade depending on vg expression outside of the wing margin; if high levels of Wg are maintained, all cells differentiate into wing margin chaetae. It is concluded that wg and vg activities together specify wing margin territories, but vg alone specifies the remaining part of the wing blade (Baena-López, 2003).

The ectopic expression of vg or wg-vg in clones may cause outgrowths with wing histotypic characteristics or patterning perturbations in the notum, leg or eyes. The transformed tissues show 'mixed' phenotypes or 'mosaic' territories where, in a 'salt and pepper' distribution, wing blade trichomes co-exist with notum or leg chaetae. Adult cuticular 'mixed' phenotypes are correlated with the ectopic expression of wing blade genes in particular combinations. However, expression of wing blade genes is detected only in some compact groups of cells within the clones. These results indicate that either vg or wg-vg are insufficient by themselves to displace all endogenous signals of identity, or that reciprocal non-autonomous influences between clonal cells and surrounding cells exist, reducing the expression of wing blade genes to groups of cells within clones. The change of wing blade genes expression in compact groups of cells in the disc and 'mixed' (salt and pepper) cuticular phenotypes in the adult could result from cell interactions during patterning and cell rearrangements in pupal stages (Baena-López, 2003).

Transformations induced by overexpression of vg or wg-vg in clones and G4 territories are, as a rule, cell autonomous, except in the wing hinge, notum and corresponding tissues in the haltere. In the wing hinge the cells of the outgrowths outside the vg clones differentiate into wing blade territories and show gene expression patterns characteristic of the wing blade cells located between the proximal vg expression and the internal ring of wg in the wild-type disc. This suggests that the non-autonomous effects in vg clones could reproduce the wild-type intercalary growth induced by the confrontation of cells expressing proximal genes with distal genes. In the notum, vg clones located simultaneously in territories expressing and not expressing ap, and initiated in the wg expression domain, may non-autonomously recruit surrounding cells to express characteristic wing blade genes at long cell distances, as wg-vg clones do. Thus, vg (together with wg expression) is necessary to induce and extend the transformation over long distances outside the clones. In contrast to vg or wg-vg clones, wg clones do not show non-autonomous transformation phenotypes and expression of wing blade genes at long distances. The issue of whether the recruitment process is caused by Wg diffusion, or whether it results from intercalary growth induced by the confrontation between cells expressing proximal genes (genes of the notum) and cells expressing distal genes (wing blade genes), remains unresolved (Baena-López, 2003).

The expression of selector genes like Ubx and en is not modified by overexpression of vg or wg-vg, but is inherited and maintained. However, the expression of the selector gene ap can be modified or inherited in some tissues, such as the legs, to give DV identity (Baena-López, 2003).

The comparative analysis of vg with other morphogenetic genes suggests that vg acts as Dll, pnr or iro, rather than as a 'master' or 'selector of tissue' gene: vg is simply a component of the genetic combination that is necessary to initiate and drive wing blade development where vg is normally expressed. Interestingly, the function of vg, in addition to conferring territorial identity, may also non-autonomously recruit surrounding cells ('inductive assimilation'), changing their specific cuticular and gene expression patterns. This is related to its function as a local organizer of growth when it is expressed among cells with different positional or regional fates. Later in development, vg, in combination with other genes, activates an inventory of downstream wing genes that specify more discrete territories within the wing blade such as veins, interveins and sensory elements (Baena-López, 2003).

Wingless promotes cell survival but constrains growth during Drosophila wing development

During animal development, organs grow to a fixed size and shape. Organ development typically begins with a rapid growth phase followed by a gradual decline in growth rate as the organ matures, but the regulation of either stage of growth remains unclear. The Wnt/Wingless (Wg) proteins are critical for patterning most animal organs, have diverse effects on development and have been proposed to promote organ growth. This study reports that contrary to this view, Wg activity actually constrains wing growth during Drosophila wing development. In addition, Wg is required for wing cell survival, particularly during the rapid growth phase of wing development. It is proposed that the cell-survival- and growth-constraining activities of Wg function to sculpt and delimit final wing size as part of its overall patterning program (Johnston, 2003).

Hedgehog promotes Bowl protein accumulation by promoting drm expression, while Wingless antagonizes Hedgehog function and Bowl accumulation by repressing drm expression

The operation of the Drm/Lines/Bowl regulatory pathway was examined in the context of the epidermal organizer. Across the dorsal embryonic epidermis, Hedgehog and Wingless are the key pattern-organizing signals. Hedgehog specifies cell fate in half the PS (the 1°-3° cell fates), while Wingless specifies the remaining cell fate (the 4° cell fate) in the complementary half. To investigate whether Hedgehog and Wingless engage the Drm/Lines/Bowl regulatory pathway, drm gene expression and Bowl protein accumulation were examined under conditions of loss or excess of Hedgehog or Wingless signaling. Expression of drm was found to be decreased in hedgehog mutants, and expanded posteriorly in embryos expressing the secreted form of Hedgehog in Engrailed/Hedgehog-expressing cells. Two points are noteworthy here: (1) while Hedgehog can directly control drm expression posterior to the Hedgehog domain, control within the Hedgehog domain is likely indirect since these cells cannot themselves respond to Hedgehog signaling; (2) the fact that excess Hedgehog does not induce drm expression in anterior cells suggests that Wingless signaling represses drm expression in this region. Consistent with this prospect, it was found that drm expression is ectopically activated in wingless mutants and repressed upon ectopic activation of the Wingless pathway. It was also found that changes in drm expression due to manipulations of Hedgehog and Wingless signaling largely led to the expected changes in Bowl protein accumulation. For instance, broadened drm expression caused by excess Hedgehog leads to a broadened Bowl domain, while the ectopic stripe of drm expression in wingless mutants also leads to increased Bowl accumulation, although Bowl accumulates rather more broadly than the narrow drm stripe would suggest. These changes in Bowl accumulation correlate nicely with the patterning changes observed with inactivation or activation of Hedgehog or Wingless signaling. It is concluded that the asymmetric response of drm to Hedgehog underlies the pattern of epidermal cell differentiation since drm promotes the accumulation of Bowl in drm-expressing cells and consequent cellular responses elicited by Bowl. Note that Bowl accumulates in two rows of cells but apparently is required for patterning across a broader region. This observation implies that Bowl controls expression of a new signal that further elaborates epidermal pattern (Hatini, 2005).

ecruitment of cells into the Drosophila wing primordium by a feed-forward circuit of vestigial autoregulation

The Drosophila wing primordium is defined by expression of the selector gene vestigial (vg) in a discrete subpopulation of cells within the wing imaginal disc. Following the early segregation of the disc into dorsal (D) and ventral (V) compartments, vg expression is governed by signals generated along the boundary between the two compartments. Short-range DSL (Delta/Serrate/LAG-2)-Notch signaling between D and V cells drives vg expression in 'border' cells that flank the boundary. It also induces these same cells to secrete the long-range morphogen Wingless (Wg), which drives vg expression in surrounding cells up to 25-30 cell diameters away. Wg signaling is not sufficient to activate vg expression away from the D-V boundary. Instead, Wg must act in combination with a short-range signal produced by cells that already express vg. Evidence that this vg-dependent, vg-inducing signal feeds forward from one cell to the next to entrain surrounding cells to join the growing wing primordium in response to Wg. It is proposed that Wg promotes the expansion of the wing primordium following the D-V segregation by fueling this non-autonomous autoregulatory mechanism (Zecca, 2007a; full text of article)

Following the D-V segregation, local DSL-Notch signaling across the compartment boundary induces the differentiation of specialized border cells that express vg, secrete Wg, and organize a dramatic ~200-fold expansion of the wing primordium. In ap0 wing discs, D-V segregation fails to occur, border cells are not specified, and the early expression of vg that initially defined the wing primordium fades away. This mutant condition was used to explore how vg and wg activity in border cells controls wing growth by asking what happens when the missing border cells were replaced with cells that ectopically express Wg, Vg or both (Zecca, 2007a).

The main finding of this study is that Wg is not sufficient to sustain or induce vg expression in ap0 discs, even when the morphogen is overexpressed, continuously, in all cells. Instead, Wg can only drive vg expression in these discs when the responding cells are near or next to cells that express exogenous Vg. The clearest demonstration of this is the experiment in which two types of clones were generated in the same ap0 disc: clones that express Nrt-Wg, a membrane tethered immobile form of Wg, and clones that express moderate levels of exogenous Vg. Neither type of clone, alone, can restore normal expression of the endogenous vg gene. However, ectopic Vg-expressing clones can induce neighboring Nrt-Wg-expressing clones to express vg, provided that they abut. Moreover, this vg expression can spread through the Nrt-Wg-expressing clone and extend to adjacent cells outside the clone (Zecca, 2007a).

These results indicate that vg-expressing cells send a short-range, possibly contact-dependent signal that is required to entrain neighboring cells to express vg in response to Wg. Furthermore, they indicate that once the responding cells express vg, they can in turn entrain their neighbors in the same way, propagating the recruitment of additional cells into the wing primordium. These findings establish the existence of a Wg-dependent feed-forward circuit of vg autoregulation and suggest that D-V border cells normally organize wing growth by providing Wg, as well as the initial Vg-dependent entraining signal that triggers reiteration of this autoregulatory circuit from one cell to the next (see feed-forward circuit of Wg-dependent vg autoregulation in Drosophila). Thus, feed-forward regulation in this context has a spatial component, mediating the expansion (in mass and cell number) of a developing primordium by a process of recruitment (Zecca, 2007a).

These results are concordant with previous reports that Wg signaling cannot drive vg expression in the wing imaginal disc in the absence of border cells, and that co-overexpression of Wg and Vg can synergize to drive vg expression in surrounding cells. However, the current findings advance these results in three significant ways. First, it was shown that vg-expressing cells provide a discrete second signal, required together with Wg, to induce vg expression in surrounding cells. Second, it was demonstrated that production of this signal can propagate from one cell to the next, establishing a feed-forward autoregulatory mechanism fueled by morphogen. Third, it was shown that physiologically normal levels of wg and vg activity are sufficient to initiate and propagate this feed-forward mechanism, establishing that it is a natural process and not an overexpression artifact (Zecca, 2007a).

The capacity of Wg to drive recruitment of new cells into the wing primordium by fueling vg feed-forward autoregulation provides one mechanism for promoting wing growth. However, it appears to operate within the context of other mechanisms for promoting wing growth, as well as for limiting where and when such growth occurs. At least three additional mechanisms for promoting wing growth, all dependent on Wg, an be distinguished. First, in addition to recruiting new cells into the wing primordium, Wg acts continuously to retain cells that were previously recruited: wing cells in which Wg transduction is abrogated rapidly lose vg expression and either die, or sort out. It is suggested that retention, like recruitment, depends on the same Wg-dependent vg autoregulatory circuit. Specifically, it is posited that the feed-forward signal is required both to induce vg expression in cells about to enter the primordiium, as well as to maintain vg expression in cells after they enter (Zecca, 2007a).

Second, independent of its role in fueling vg autoregulation, Wg also appears necessary for the survival and proliferation of vg-expressing wing cells. It is possible to bypass the requirement for Wg-dependent vg autoregulation by using a Tubalpha1>vg transgene to express exogenous Vg: nevertheless, such 'rescued' Tubalpha1>vg wing cells still require Wg input to survive, grow and proliferate (Zecca, 2007a).

Third, cells are normally recruited into the vg-expressing population from a surrounding population defined by detectable expression of rn but not vg. Accordingly, the 'rn-only' population must proliferate in conjunction with the growth of the wing primordium; otherwise, it would be depleted, limiting further recruitment and compromising the development of more proximal structures. In support, it was found that the rescue of the wing primordium by Wg-dependent vg autoregulation is associated with the rescue and expansion of the surrounding population of rn-only cells. Hence, once cells are recruited into the wing primordium in response to Wg, they may send an additional signal to sustain the source population of rn-only cells from which additional wing cells will be recruited (Zecca, 2007a).

Conversely, at least three mechanisms can be distinguised that appear to constrain operation of the feed-forward circuit, limiting expansion of the wing primordium in space and time. First, is the early segregation of the wing imaginal disc into distinct distal (pre-blade) and proximal (pre-hinge/notum) compartments, only one of which, the pre-blade, is competent to engage the feed-forward autoregulatory circuit. This event, which occurs before D-V compartmental segregation, appears to be governed by an early burst of Wg signaling that selectively and heritably represses tsh expression in the founder cells of the putative pre-blade (tshOFF) compartment. Although Wg-dependent vg autoregulation normally appears to operate only within the resulting pre-blade (tshOFF) compartment (which includes the rn-only domain, as well as the presumptive wing pouch), this limit can be exceeded if cells are exposed to ectopic Wg signal before they would otherwise segregate into the pre-hinge/notum (tshON) compartment. It is suggested that this ectopic Wg activity inappropriately blocks tsh activity in the prospective pre-hinge/notum, creating an ectopic pre-blade compartment in which feed-forward regulation can occur (Zecca, 2007a).

Second, is the availability of Dpp secreted by A compartment cells along the A-P compartment boundary. Dpp, like Wg, is essential for vg expression and wing growth. Hence, operation of the feed-forward mechanism might depend on the combined inputs of Wg and Dpp, centering the expanding domain of Wg-dependent vg expression on the intersection between the D-V and A-P compartment boundaries. In agreement, evidence for Wg-dependent feed-forward propagation is observed only in cells located within ~25 cell diameters of the A-P boundary, the expected range of Dpp emanating from A cells along the boundary (Zecca, 2007a).

Third, operation of the vg feed-forward circuit might be temporally constrained. It is striking that vg is initially expressed in ap-null discs up until the time the D-V compartmental segregation would normally occur; yet, flooding such discs with exogenous Wg signal is not sufficient to sustain and propagate this early vg expression. By contrast, clones of Tubalpha1-vg cells generated in these same discs are effective in triggering the propagation of vg expression in surrounding cells, suggesting that cells within the 'pre-blade' become competent to operate the feed-forward autoregulatory circuit only after the time at which the D-V segregation normally occurs, concomitant with the differentiation of wg- and vg-expressing border cells (Zecca, 2007a).

Thus, it is proposed that following the D-V segregation, Wg drives wing growth by at least four distinct outputs: first, by recruiting new cells into the wing primordium; second, by maintaining the recruited cells and their descendents within the primordium; third, by sustaining the survival and proliferative growth of cells defined as 'wing' by the selector activity of Vg; and finally, by acting through the agency of newly recruited wing cells to induce the expansion of the surrounding population of rn-only cells from which additional wing cells will be recruited. Counterbalancing these effects would be a requirement for heritable repression of tsh, availability of Dpp, and transition to a discrete phase of wing disc development during which the feed-forward circuit can operate. Within these constraints, the size of the wing primordium at any point following the D-V segregation would reflect the increasing range of Wg emanating from the D-V border cells via its capacity to propagate and sustain the vg autoregulatory circuit and, separately, its capacity to promote the proliferative growth of vg- and rn-only-expressing cells (Zecca, 2007a).


Table of contents


wingless continued: Biological Overview | Evolutionary Homologs | Transcriptional regulation |Targets of Activity | Protein Interactions | mRNA Transport | Developmental Biology | References

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