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Klippel-Feil syndrome: clinical features and current understanding of etiology.

Klippel-Feil syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. This also has made delineation of diagnostic and prognostic classes difficult and has complicated elucidation of the genetic etiology of the syndrome. Furthermore, it is unclear whether Klippel-Feil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities. Pedigree analysis has identified a human genetic locus for the disease. Mouse models suggest members of the PAX gene family and Notch signaling pathway as possible etiologic candidates. Only by identifying the link between the genetic etiology and the phenotypic pathoanatomy of Klippel-Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.

Humans↗

Comparative genomics on Wnt9a orthologs.

WNT, Hedgehog and Notch signaling pathways network together during carcinogenesis and embryogenesis. WNT3A-WNT9A (WNT14) locus at chromosome 1q42.13 and WNT3-WNT9B (WNT14B) locus at chromosome 17q21.31 are paralogous regions within the human genome. WNT9A mRNA is expressed in various types of human cancer, such as gastric cancer, pancreatic cancer, and breast cancer. In addition, Wnt9a gene is implicated in chondrogenesis and joint formation during embryogenesis. Here we identified and characterized rat Wnt9a gene by using bioinformatics. Rat Wnt9a gene, consisting of four exons, was located within AC121055.4 and AC133374.2 genome sequences. Rat Wnt9a protein (365 aa) with N-terminal signal peptide, 24 Cys residues and one Asn-linked glycosylation site showed 100%, 98.1% and 82.5% total amino-acid identity with mouse Wnt9a, human WNT9A and chicken wnt9a, respectively. Exonic regions except 3'-UTR were well conserved between human WNT9A and rodent Wnt9a genes; however, 5'-flanking promoter region was not well conserved. Transcription-factor-binding sites conserved between human WNT9A and rodent Wnt9a 5'-flanking promoter regions were not identified by using the Match program. Although the amino-acid sequence was highly conserved among mammalian Wnt9a orthologs, the 5'-flanking promoter region was significantly divergent between human WNT9A and rodent Wnt9a genes. This is the first report on rat Wnt9a gene as well as on comparative genomics for Wnt9a orthologs.

Amino Acid Sequence↗

Comparative genomics on Fzd8 orthologs.

WNT signaling pathway networks with Hedgehog, Notch and FGF signaling pathways during carcinogenesis and embryogenesis. FZD8 is up-regulated in HeLa S3 and A549 cells. Here we identified and characterized rat Fzd8 gene by using bioinformatics. Rat Fzd8 gene was identified within AC131883.2 genome sequence. Rat Fzd8 (684 aa) showed 99.1, 96.8, 71.8 and 71.6% total amino-acid identity with mouse Fzd8, human FZD8, zebrafish fzd8 and Xenopus fzd8, respectively. Vertebrate Fzd8 orthologs were seven-transmembrane receptors with Frizzled (Fz) domain within the N-terminal extracellular region, leucine zipper motif around the fifth transmembrane domain, and Dishevelled (Dvl)-binding motif within the C-terminal cytoplasmic region. Two Asn-linked glycosylation sites within the N-terminal extracellular region were conserved among vertebrate Fzd8 orhologs. One Asn-linked glycosylation site within the second extracellular loop was conserved among mammalian Fzd8 orthologs, but not in Xenopus and zebrafish fzd8 orthologs. These facts indicate the molecular evolution of Fzd8 orthologs. The 5'-flanking region and exonic region were well conserved among mammalian Fzd8 orthologs. Nucleotide position 92950-94221 of AC131883.2 genome sequence was identified as the evolutionarily conserved promoter region of rat Fzd8 gene, and nucleotide position 133421-132134 of AL121749.14 genome sequence as the evolutionarily conserved promoter region of human FZD8 gene. Match program revealed that ELK1- and PAX4-binding sites were conserved between rat Fzd8 and human FZD8 promoters. This is the first report on the rat Fzd8 gene as well as on comparative genomics for Fzd8 orthologs.

Amino Acid Sequence↗

[Effects of ADAM28 AS-ODN on proliferation and AKPase of HDFCs].

PURPOSE: To study the effects of ADAM28 antisense oligodeoxynucleotide (AS-ODN) on proliferation of human dental follicle cells (HDFCs) and activity of alkaline phosphatase (AKPase). METHODS: Cell culture, gene transfection, MTT chromatometry and enzyme kinetics methods were used to detect the possible mechanisms of ADAM28 AS-ODN on proliferation, differentiation of HDFCs and effect of the activity of AKPase. Statistical significance was assessed by multiple comparison (q test, SNK) in one-way analysis of variance (ANOVA). RESULTS: ADAM28 AS-ODN was transfected into HDFCs successfully. MTT and AKPase activity assays indicated that cell proliferation and AKPase activity of ADAM28 AS-ODN group were significantly lower than those of S-ODN and vacuity control group (P<0.01). MTT assay revealed P value between AS-ODN and S-ODN, blank control group was 0.0002, 0.0001 respectively, P<0.01; AKPase assay showed P value between AS-ODN and S-ODN, vacuity control group was 0.0007, 0.0003 respectively, P<0.01. ADAM28 AS-ODN could inhibit the proliferation and AKPase activity of HDFCs significantly. CONCLUSIONS: ADAM28 may promote proliferation and differentiation of HDFCs by participating in Notch signal pathway.

ADAM Proteins↗

Somitogenesis.

We are still far from understanding "somitogenesis" as a whole, but there is an emerging picture of the tissue interactions and molecular mechanisms that underlie and govern various aspects of this essential multistep patterning process in vertebrates. The ability to form segmental units appears to be a property specific to the paraxial mesoderm (as opposed to lateral or limb mesoderm), and this ability is probably acquired during early development, when paraxial mesoderm is specified and emerges from the primitive streak. Signaling molecules expressed in the primitive streak and tail bud are prime candidates involved in specifying paraxial (as well as other mesodermal) fates. Increasing levels of signaling molecules may be required in posterior regions of the embryo, and combinatorial signals may be essential to specify the paraxial mesoderm along the entire anterior-posterior axis. However, most of the pivotal signals, and the ways in which they are integrated and interact, remain enigmatic. Once the paraxial mesoderm is formed, segmentation proceeds largely without the requirement for continuous interactions with surrounding tissues. Somitomeres represent a morphologic pattern in the mesenchymal presomitic mesoderm, but their significance for somite formation is unclear. Molecular patterns are established in the presomitic mesoderm and probably are of functional significance. Cell interactions within the paraxial mesoderm appear to be involved in forming segment borders and ensuring their maintenance during subsequent differentiation of somites. These interactions are, at least in part, mediated by components of the conserved Notch signaling pathway, which may have multiple functions during somitogenesis. Epithelial somites are clearly a result of segmentation, but epithelialization is not the mechanism to form segments, supporting the idea that the basic mechanisms that govern segmentation in the mesoderm of vertebrates are very similar in different species despite divergent types of resulting segments (i.e., epithelial somites versus rotated myotomes). Concomitantly with segmentation, segment polarity and positional specification are established. How these processes are linked to, and depend on, each other is unknown, as is how they are regulated and how segmentation is coordinated on both sides of the neural tube. In contrast to early patterning in the presomitic mesoderm, patterning of the mature somites during their subsequent differentiation is the result of extensive tissue interactions. Virtually all tissues in close proximity to somites provide signals that are involved in induction or inhibition of particular differentiation pathways, but how these pathways are initiated is less clear. Some of the molecules mediating inductive signals and tissue interactions are known, and a growing number of candidate genes are potentially involved in regulating various steps of somitogenesis. The roles of these genes have yet to be analyzed. In addition, the molecular genetic analysis of mutations affecting somitogenesis, which were collected in the mouse and more recently in the zebrafish (Driever et al., 1996; Haffter et al., 1996; van Eeden et al., 1996), promises to add important new insights into this process. Much remains to be done, but the tools are at hand to provide further understanding of the molecular mechanisms underlying somitogenesis.

Animals↗

Notch signaling from tumor cells: a new mechanism of angiogenesis.

Notch signaling is an evolutionarily conserved pathway and plays key roles in embryonic vascular development and angiogenesis. Multiple components of the Notch pathway are expressed in vasculature, and mice deficient for a variety of these components display embryonic lethality with vascular remodeling defects. Alteration of Notch signaling in various endothelial cells generates profound effects on angiogenesis in vitro. New evidence shows that Notch signaling from tumor cells is able to activate endothelial cells and trigger tumor angiogenesis in vitro and in a xenograft mouse tumor model. Selective interruption of Notch signaling within tumors may provide an antiangiogenic strategy.

Angiogenesis Inhibitors↗

Ras pathway signals are required for notch-mediated oncogenesis.

The Notch genes of C. elegans, Drosophila melanogaster and vertebrates encode receptors responsible for cell fate decisions during development. These Notch receptors and their ligands, Delta and Jagged, have been implicated in several human diseases. Truncated, constitutively active mutant forms of the Notch receptor appear to be involved in human T-cell leukemia, mammary carcinomas in mice, and a tumorous germline phenotype in C. elegans. Since activated Notch induces solitary tumors in transgenic mice, it is highly likely that collaborating genetic events are required for tumor formation. We have assessed four signal transduction pathways to determine which might play additional roles in malignant transformation in concert with activated Notch4. Our results suggest that transformation by Notch does not, as might have been expected, depend on the Src-like kinases Lck and Fyn, nor upon signals from protein kinase A and C (PKA, PKC). Rather, transformation by Notch requires active signals from the Erk/MAP kinase and PI-3 kinase pathways downstream of Ras. Oncogene (2000) 19, 4191 - 4198

Animals↗

rugose (rg), a Drosophila A kinase anchor protein, is required for retinal pattern formation and interacts genetically with multiple signaling pathways.

In the developing Drosophila eye, cell fate determination and pattern formation are directed by cell-cell interactions mediated by signal transduction cascades. Mutations at the rugose locus (rg) result in a rough eye phenotype due to a disorganized retina and aberrant cone cell differentiation, which leads to reduction or complete loss of cone cells. The cone cell phenotype is sensitive to the level of rugose gene function. Molecular analyses show that rugose encodes a Drosophila A kinase anchor protein (DAKAP 550). Genetic interaction studies show that rugose interacts with the components of the EGFR- and Notch-mediated signaling pathways. Our results suggest that rg is required for correct retinal pattern formation and may function in cell fate determination through its interactions with the EGFR and Notch signaling pathways.

A Kinase Anchor Proteins↗

Notch signaling in the development of the inner ear: lessons from Drosophila.

The sensory patches in the ear of a vertebrate can be compared with the mechanosensory bristles of a fly. This comparison has led to the discovery that lateral inhibition mediated by the Notch cell-cell signaling pathway, first characterized in Drosophila and crucial for bristle development, also has a key role in controlling the pattern of sensory hair cells and supporting cells in the ear. We review the arguments for considering the sensory patches of the vertebrate ear and bristles of the insect to be homologous structures, evolved from a common ancestral mechanosensory organ, and we examine more closely the role of Notch signaling in each system. Using viral vectors to misexpress components of the Notch pathway in the chick ear, we show that a simple lateral-inhibition model based on feedback regulation of the Notch ligand Delta is inadequate for the ear just as it is for the fly bristle. The Notch ligand Serrate1, expressed in supporting cells in the ear, is regulated by lateral induction, not lateral inhibition; commitment to become a hair cell is not simply controlled by levels of expression of the Notch ligands Delta1, Serrate1, and Serrate2 in the neighbors of the nascent hair cell; and at least one factor, Numb, capable of blocking reception of lateral inhibition is concentrated in hair cells. These findings reinforce the parallels between the vertebrate ear and the fly bristle and show how study of the insect system can help us understand the vertebrate.

Animals↗

All good things must come to an end: how is Notch signaling turned off?

Turning off signaling pathways can be just as important for proper biological regulation as turning them on. The Notch signaling pathway controls development of the nervous system in Drosophila. Proteolysis of Notch appears to initiate signaling, but further proteolysis may also terminate signals from this pathway. Kopan discusses mechanisms that limit signaling by Notch, including recent evidence that degradation of specifically targeted proteins by the proteasome is required.

Animals↗

Evidence for a physical interaction between presenilin and Notch.

Genetic analyses in Caenorhabditis elegans demonstrate that sel-12 and hop-1, homologues of the Alzheimer's disease-associated presenilin genes, modify signaling through LIN-12 and GLP-1, homologues of the Notch cell surface receptor. To gain insight into the biochemical basis of this genetic interaction, we tested the possibility that presenilin-1 (PS1) physically associates with the Notch1 receptor in mammalian cells. Notch1 and PS1 coimmunoprecipitated from transiently transfected human embryonic kidney 293 cell lysates in a detergent-sensitive manner, consistent with a noncovalent physical association between the two proteins. The interaction predominantly occurred early in the secretory pathway prior to Notch cleavage in the Golgi, because PS1 immunoprecipitation preferentially recovered the full-length Notch1 precursor. When PS1 was immunoprecipitated from 293 cells that had been metabolically labeled with [35S]methionine and [35S]cysteine, Notch1 was the primary protein detected in PS1 immunoprecipitates, suggesting that this interaction is specific. Furthermore, endogenous Notch and presenilin coimmunoprecipitated from cultured Drosophila cells, indicating that physical interaction can occur at physiological expression levels. These results suggest that the genetic relationship between presenilins and the Notch signaling pathway derives from a direct physical association between these proteins in the secretory pathway.

Alzheimer Disease↗

Fibroblast growth factor receptor signaling promotes radial glial identity and interacts with Notch1 signaling in telencephalic progenitors.

The Notch and fibroblast growth factor (FGF) pathways both regulate cell fate specification during mammalian neural development. We have shown previously that Notch1 activation in the murine forebrain promotes radial glial identity. This result, together with recent evidence that radial glia can be progenitors, suggested that Notch1 signaling might promote progenitor and radial glial character simultaneously. Consistent with this idea, we found that in addition to promoting radial glial character in vivo, activated Notch1 (ActN1) increased the frequency of embryonic day 14.5 (E14.5) ganglionic eminence (GE) progenitors that grew into neurospheres in FGF2. Constitutive activation of C-promoter binding factor (CBF1), a Notch pathway effector, also increased neurosphere frequency in FGF2, suggesting that the effect of Notch1 on FGF responsiveness is mediated by CBF1. The observation that ActN1 promoted FGF responsiveness in telencephalic progenitors prompted us to examine the effect of FGF pathway activation in vivo. We focused on FGFR2 because it is expressed in radial glia in the GEs where ActN1 increases FGF2 neurosphere frequency, but not in the septum where it does not. Like ActN1, activated FGFR2 (ActFGFR2) promoted radial glial character in vivo. However, unlike ActN1, ActFGFR2 did not enhance neurosphere frequency at E14.5. Additional analysis demonstrated that, unexpectedly, neither ActFGFR2 nor ActFGFR1 could replace the need for ligand in promoting neurosphere proliferation. This study suggests that telencephalic progenitors with radial glial morphology are maintained by interactions between the Notch and FGF pathways, and that the mechanisms by which FGF signaling promotes radial glial character in vivo and progenitor proliferation in vitro can be uncoupled.

Animals↗

Notch1 signaling promotes primary melanoma progression by activating mitogen-activated protein kinase/phosphatidylinositol 3-kinase-Akt pathways and up-regulating N-cadherin expression.

Cellular signaling mediated by Notch receptors results in coordinated regulation of cell growth, survival, and differentiation. Aberrant Notch activation has been linked to a variety of human neoplasms. Here, we show that Notch1 signaling drives the vertical growth phase (VGP) of primary melanoma toward a more aggressive phenotype. Constitutive activation of Notch1 by ectopic expression of the Notch1 intracellular domain enables VGP primary melanoma cell lines to proliferate in a serum-independent and growth factor-independent manner in vitro and to grow more aggressively with metastatic activity in vivo. Notch1 activation also enhances tumor cell survival when cultured as three-dimensional spheroids. Such effects of Notch signaling are mediated by activation of the mitogen-activated protein kinase (MAPK) and Akt pathways. Both pathways are activated in melanoma cells following Notch1 pathway activation. Inhibition of either the MAPK or the phosphatidylinositol 3-kinase (PI3K)-Akt pathway reverses the Notch1 signaling-induced tumor cell growth. Moreover, the growth-promoting effect of Notch1 depends on mastermind-like 1. We further showed that Notch1 activation increases tumor cell adhesion and up-regulates N-cadherin expression. Our data show regulation of MAPK/PI3K-Akt pathway activities and expression of N-cadherin by the Notch pathway and provide a mechanistic basis for Notch signaling in the promotion of primary melanoma progression.

Animals↗

Microarray analysis of the fetal hippocampus in the Emx2 mutant.

Deficiency in the transcription factor Emx2 causes a specific alteration of hippocampal development, which has been well analyzed morphologically. We are currently using microarrays and in situ hybridization to characterize gene expression in the Emx2 mutant hippocampus. In this report on our preliminary results for the fetal stage, we identify a group of genes for most of which a putative relation to Emx2 pathways has not been previously recognized. Some candidates are development genes or are involved in functional maturation, and show expression in the hippocampal plate and/or developing dentate gyrus. A second class of candidates label neuronal, glial or vascular structures in the outer marginal zone, and likely represent markers for cell populations specifically absent in the mutant. Our results point at pathways and processes altered in the mutant, particularly the Notch and chemokine pathways, the processes of cell migration, axonal guidance and angiogenesis, and the relation of pia and Cajal-Retzius cells with hippocampal morphogenesis.

Animals↗

Developmental signalling pathways in lung cancer.

Hedgehog, Notch and Wnt signalling are all essential for axial patterning and progenitor cell fates in signalling pathways conserved from flies to humans. Aberrant activation of these pathways is observed in a wide variety of cancers, suggesting that these embryonic signalling pathways contribute in a fundamental way to the evolution and maintenance of a malignant phenotype. Because all three of these pathways participate in lung development, recent studies have begun to explore the connection between lung development, airway epithelial repair and lung cancer. Development, repair and malignant transformation of the neuroendocrine lineage are all accompanied by aberrant Hedgehog pathway activation, whereas Notch and Wnt signalling may be important in other airway cell types. Small molecule targeting of these pathways may provide therapeutic opportunities in lung cancer. The plant-derived alkaloid cyclopamine is a naturally occurring Hedgehog pathway inhibitor that shows therapeutic promise in small cell lung cancer, a highly aggressive neuroendocrine tumour. A more detailed understanding of how embryonic signalling pathways participate in airway epithelial repair and tumourigenesis may reveal more novel therapeutic vulnerabilities in lung cancer.

Animals↗

Notch-regulated ankyrin-repeat protein inhibits Notch1 signaling: multiple Notch1 signaling pathways involved in T cell development.

We have characterized the function of Notch-regulated ankyrin-repeat protein (Nrarp) in mouse cell lines and in hematopoietic stem cells (HSCs). Nrarp overexpression is able to block Notch-induced activation of CBF-1. In AKR1010 thymoma cells, Nrarp overexpression blocks CBF-1-dependent transcriptional activation of Notch-responsive genes and inhibits phenotypic changes associated with Notch activation. Enforced expression of Nrarp in mouse HSCs results in a profound block in T lineage commitment and progression through early stages of thymocyte maturation. In contrast, Deltex-1 overexpression in HSCs can also block T lineage commitment but not progression through the early double negative stages of thymocyte maturation. The different effects of Deltex-1 and Nrarp overexpression suggest that alternate Notch signaling pathways mediate T vs B lineage commitment and thymocyte maturation.

Animals↗

The metalloprotease-disintegrin Kuzbanian participates in Notch activation during growth and patterning of Drosophila imaginal discs.

The Notch transmembrane protein is the receptor of an evolutionary conserved pathway that mediates intercellular signalling leading to the specification of different cell types during development. In this pathway, many aspects of the signal transduction mechanism remain poorly understood, especially the role of proteolytic processing of Notch. We present genetic evidence indicating that the metalloprotease-disintegrin kuzbanian (J. Rooke, D. Pan, T. Xu and G. M. Rubin (1996) Science 273, 1227-1231) is a new component of the Notch signalling pathway and is involved in Notch activation. kuzbanian genetic mosaics demonstrate that, during neurogenesis, wing margin formation and vein width specification kuzbanian is autonomously required in the cell where Notch is activated. Genetic interactions between kuzbanian and different genes of the Notch pathway indicate that kuzbanian is required upstream of Suppressor of Hairless. Moreover, the requirement of kuzbanian for signalling by a ligand-dependent Abruptex receptor, but not by a constitutively activated form of Notch, suggests that kuzbanian is involved in the generation of a Notch functional receptor and/or in its activation. However, differences in the phenotypes of loss-of-function Notch and kuzbanian mutations suggest the existence of alternative Kuzbanian-independent mechanisms that generate Notch functional receptors.

Animals↗

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and pancreatic abnormalities. We have recently demonstrated that Jagged1 (JAG1) is the AGS gene. JAG1 encodes a ligand in the Notch intercellular signaling pathway. AGS is the first developmental disorder to be associated with this pathway and the first human disorder caused by a Notch ligand. We have screened 54 AGS probands and family members to determine the frequency of mutations in JAG1. Three patients (6%) had deletions of the entire gene. Of the remaining 51 patients, 35 (69%) had mutations within JAG1, identified by SSCP analysis. Of the 35 identified intragenic mutations, all were unique, with the exceptions of a 5-bp deletion in exon 16, seen in two unrelated patients, and a C insertion at base 1618 in exon 9, also seen in two unrelated patients. The 35 intragenic mutations included 9 nonsense mutations (26%); 2 missense mutations (6%); 11 small deletions (31%), 8 small insertions (23%), and 1 complex rearrangement (3%), all leading to frameshifts; and 4 splice-site mutations (11%). The mutations are spread across the coding sequence of the gene within the evolutionarily conserved motifs of the JAG1 protein. There is no phenotypic difference between patients with deletions of the entire JAG1 gene and those with intragenic mutations, which suggests that one mechanism involved in AGS is haploinsufficiency. The two missense mutations occur at the same amino acid residue. The mechanism by which these missense mutations lead to the disease is not yet understood; however, they suggest that mechanisms other than haploinsufficiency may result in the AGS phenotype.

Alagille Syndrome↗