DLL3

Summary

Gene Symbol: DLL3
Description: delta-like 3 (Drosophila)
Alias: SCDO1, delta-like protein 3, delta3, drosophila Delta homolog 3
Species: human

Top Publications

  1. ncbi Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm
    Sally L Dunwoodie
    Division of Mammalian Development, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Development 129:1795-806. 2002
  2. ncbi Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
    M P Bulman
    Molecular Genetics, School of Postgraduate Medicine and Health Sciences, Barrack Road, Exeter, UK
    Nat Genet 24:438-41. 2000
  3. pmc A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW United Kingdom
    Am J Hum Genet 65:175-82. 1999
  4. pmc Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
    J Med Genet 40:333-9. 2003
  5. pmc Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo
    Insa Geffers
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany
    J Cell Biol 178:465-76. 2007
  6. pmc A comparison of brain gene expression levels in domesticated and wild animals
    Frank W Albert
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    PLoS Genet 8:e1002962. 2012
  7. ncbi Defining pallial and subpallial divisions in the developing Xenopus forebrain
    Isabelle Bachy
    UPR 2197 Développement, Evolution, Plasticité du Système Nerveux, Institut de Neurobiologie Alfred Fessard, CNRS, Avenue de la Terrasse, 91198 Gif sur Yvette Cedex, France
    Mech Dev 117:163-72. 2002
  8. pmc Delta-like 3 is silenced by methylation and induces apoptosis in human hepatocellular carcinoma
    Kentaro Maemura
    Department of Anatomy and Cell Biology, Osaka Medical College, Takatsuki, Osaka, Japan
    Int J Oncol 42:817-22. 2013
  9. doi Tumorigenic potential of miR-18A* in glioma initiating cells requires NOTCH-1 signaling
    Laurent Turchi
    Université de Nice Sophia, Nice, France
    Stem Cells 31:1252-65. 2013
  10. ncbi [Spondylocostal dysostosis: a rare genetic disease]
    O Beine
    Médecin stagiaire, ULg
    Rev Med Liege 59:513-6. 2004

Research Grants

  1. Molecular Analysis of the Segmentation Clock
    Olivier Pourquie; Fiscal Year: 2006
  2. GENETIC ANALYSIS OF THE NOTCH SIGNALING PATHWAY
    Thomas Gridley; Fiscal Year: 2007

Scientific Experts

  • Shubha R Phadke
  • Nerea Moreno
  • Zoran Gucev
  • Elly S W Ngan
  • Aitor Gonzalez
  • Peter D Turnpenny
  • Sally L Dunwoodie
  • Gavin Chapman
  • Rebecca E Fisher
  • D T W Jones
  • K Kusumi
  • O Pourquie
  • P F Giampietro
  • Gerard F Hoyne
  • L Bonafe
  • O Cogulu
  • J Laborda
  • D J Amor
  • Heidi S Phillips
  • Thomas Gridley
  • Duncan B Sparrow
  • William Sewell
  • Masuko Katoh
  • Branden R Nelson
  • Neil V Whittock
  • Dorian M Gonzalez
  • Eric F Rappaport
  • David Sillence
  • Laurent Turchi
  • Kentaro Maemura
  • Andrea L Penton
  • Xinlong Ma
  • Frank W Albert
  • Walter L Eckalbar
  • N V Whittock
  • Farah A Falix
  • Walter E Berdon
  • Ahmed Raafat
  • S Yan
  • S Ellard
  • Lee A D Cooper
  • R Michael Henke
  • Shinya Obayashi
  • Kuicheon Choi
  • Xudong Zhao
  • Michael E Mullendore
  • Sara Farrah Heuss
  • David Coman
  • J Beckers
  • Joshua D Gibson
  • Dilusha A William
  • Insa Geffers
  • Stephen C Pratt
  • Kathleen M Loomes
  • Byron H Hartman
  • Merridee A Wouters
  • Masaru Katoh
  • Alyssa A Schaffer
  • Ayyakannu Ayyanan
  • Megan L O'Brien
  • Jihua Chen
  • D B Sparrow
  • C Machka
  • Achim Gossler
  • Mitsuji Maruhashi
  • Ena Ladi
  • Melissa K Maisenbacher
  • Yusuke Shinkai
  • O Beine
  • L T Raetzman
  • Sian Ellard
  • Yu Takahashi
  • Nian Zhang
  • Isabelle Bachy
  • Hitomi Kurose
  • Fanny Burel-Vandenbos
  • Paul J Leo
  • David N Debruyne
  • Yasmine Neirijnck
  • Matthew A Brown
  • Virginie Virolle
  • Yoshinori Otsuki
  • Marie Pierre Junier
  • Robert F Hevner
  • Kazutake Yokoyama
  • Abduhadi Shishko
  • Francesco Bedogni
  • Ellen Van Obberghen-Schilling
  • Teruo Ueno
  • Mohamed Fareh

Detail Information

Publications78

  1. ncbi Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm
    Sally L Dunwoodie
    Division of Mammalian Development, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Development 129:1795-806. 2002
    A loss-of-function mutation in the mouse delta-like3 (Dll3) gene has been generated following gene targeting, and results in severe axial skeletal defects...
  2. ncbi Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
    M P Bulman
    Molecular Genetics, School of Postgraduate Medicine and Health Sciences, Barrack Road, Exeter, UK
    Nat Genet 24:438-41. 2000
    ..1-q13.3 that is homologous with a mouse region containing a gene encoding the Notch ligand delta-like 3 (Dll3)...
  3. pmc A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW United Kingdom
    Am J Hum Genet 65:175-82. 1999
    ..Identification of these genes will improve the understanding of the molecular processes contributing to both normal and abnormal human vertebral development...
  4. pmc Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
    J Med Genet 40:333-9. 2003
    ..We have previously shown that recessive forms of SCD can be caused by mutations in the delta-like 3 gene, DLL3. Here, we have sequenced DLL3 in a series of SCD cases and identified 12 mutations in a further 10 families...
  5. pmc Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo
    Insa Geffers
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany
    J Cell Biol 178:465-76. 2007
    The Notch ligands Dll1 and Dll3 are coexpressed in the presomitic mesoderm of mouse embryos. Despite their coexpression, mutations in Dll1 and Dll3 cause strikingly different defects...
  6. pmc A comparison of brain gene expression levels in domesticated and wild animals
    Frank W Albert
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    PLoS Genet 8:e1002962. 2012
    ..However, two of the genes with the strongest expression differences between the rats (DLL3 and DHDH) were located in a genomic region associated with tameness and aggression, suggesting a role in ..
  7. ncbi Defining pallial and subpallial divisions in the developing Xenopus forebrain
    Isabelle Bachy
    UPR 2197 Développement, Evolution, Plasticité du Système Nerveux, Institut de Neurobiologie Alfred Fessard, CNRS, Avenue de la Terrasse, 91198 Gif sur Yvette Cedex, France
    Mech Dev 117:163-72. 2002
    ..telencephalon, we have used two sets of developmental regulators: genes acting in early regional specification (x-Dll3, x-Nkx2.1, x-Emx1, x-Pax6, x-Eomes) or in cell determination (x-Lhx5 and x-Lhx7)...
  8. pmc Delta-like 3 is silenced by methylation and induces apoptosis in human hepatocellular carcinoma
    Kentaro Maemura
    Department of Anatomy and Cell Biology, Osaka Medical College, Takatsuki, Osaka, Japan
    Int J Oncol 42:817-22. 2013
    ..restriction landmark genomic scanning, several aberrantly methylated genes, including Delta-like 3 (DLL3), have been isolated. In this study, we investigated the function of DLL3 in hepatocarcinogenesis...
  9. doi Tumorigenic potential of miR-18A* in glioma initiating cells requires NOTCH-1 signaling
    Laurent Turchi
    Université de Nice Sophia, Nice, France
    Stem Cells 31:1252-65. 2013
    ..Mechanistically, ERK-dependent induction of miR-18a* directly represses expression of DLL3, an autocrine inhibitor of NOTCH, thus enhancing the level of activated NOTCH-1...
  10. ncbi [Spondylocostal dysostosis: a rare genetic disease]
    O Beine
    Médecin stagiaire, ULg
    Rev Med Liege 59:513-6. 2004
    ..The major gene involved is DLL3, on chromosome 19...
  11. pmc Dynamic interactions between intermediate neurogenic progenitors and radial glia in embryonic mouse neocortex: potential role in Dll1-Notch signaling
    Branden R Nelson
    Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, Washington 98101, USA or
    J Neurosci 33:9122-39. 2013
    ..progenitor cell diversification, including different subpopulations of Hes1+ and/or Hes5+ RG, and Dll1+ and/or Dll3+ INPs...
  12. ncbi Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:575-9. 2003
    ..Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta-like 3 (DLL3), that encodes a ligand for the Notch signalling pathway-ARSCD type 1...
  13. ncbi Notch ligand, JAG1, is evolutionarily conserved target of canonical WNT signaling pathway in progenitor cells
    Masuko Katoh
    M and M Medical BioInformatics, Hongo 113 0033, Japan
    Int J Mol Med 17:681-5. 2006
    ..Here, we searched for TCF/LEF-binding site within the promoter region of Notch ligand genes, including DLL1, DLL3, DLL4, JAG1 and JAG2...
  14. pmc Associations between microRNA expression and mesenchymal marker gene expression in glioblastoma
    Xinlong Ma
    Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Neuro Oncol 14:1153-62. 2012
    ..In addition, we examined 23 genes, including proneural markers (DLL3, BCAN, and OLIG2), mesenchymal markers (YKL-40, CD44, and Vimentin), cancer stem cell-related markers, and receptor ..
  15. doi Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6
    Duncan B Sparrow
    Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW 2010, Australia
    Hum Mol Genet 22:1625-31. 2013
    ..of several forms of autosomal recessive SCD cases has been solved with the identification of four causative genes (DLL3, MESP2, LFNG and HES7)...
  16. doi Somitogenesis in the anole lizard and alligator reveals evolutionary convergence and divergence in the amniote segmentation clock
    Walter L Eckalbar
    School of Life Sciences, Arizona State University, PO Box 874501, Tempe, AZ 85287, USA
    Dev Biol 363:308-19. 2012
    ..gradient in the PSM not observed in the chicken or mouse, and EGF repeat structure of the divergent notch ligand, dll3. The anole and mouse share cycling expression of dll1 ligand in the PSM...
  17. pmc Notch signaling in human development and disease
    Andrea L Penton
    Department of Pathology and Laboratory Medicine, The Children s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    Semin Cell Dev Biol 23:450-7. 2012
    ..receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway...
  18. doi Possible roles of DLK1 in the Notch pathway during development and disease
    Farah A Falix
    Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:988-95. 2012
    ..In mammals, four Notch receptors (NOTCH1-4) and five activating canonical ligands (JAGGED1, JAGGED2, DLL1, DLL3 and DLL4) have been described. The precise function of noncanonical Notch ligands remains unclear...
  19. pmc Distinct biological roles for the notch ligands Jagged-1 and Jagged-2
    Kuicheon Choi
    Department of Thoracic Head and Neck Medical Oncology, University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 284:17766-74. 2009
    ..of non-small cell lung cancer cell lines, we found that the predominant Notch ligands were JAG1, JAG2, DLL1, and DLL3. Given that Notch ligands reportedly have overlapping receptor binding specificities, we postulated that they have ..
  20. pmc Ascl1 and Neurog2 form novel complexes and regulate Delta-like3 (Dll3) expression in the neural tube
    R Michael Henke
    Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX 75390, USA
    Dev Biol 328:529-40. 2009
    Delta-like 3 (Dll3) is a Delta family member expressed broadly in the developing nervous system as neural progenitor cells initiate differentiation...
  21. doi Expression profile of Notch-related genes in multidrug resistant K562/A02 cells compared with parental K562 cells
    S Yan
    Department of Hematology, Qilu Hospital, Shandong University, Jinan, Shandong, China
    Int J Lab Hematol 32:150-8. 2010
    ..cDNA microarray showed marked increases in binding of collagen and cell proliferation-related genes (CD44, DLL3, IL17B, NUMB, and NUMBL) and decreases in signal transduction and transcription factor activity related genes (FZD9,..
  22. pmc Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis
    William Sewell
    School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA
    Dev Biol 329:400-9. 2009
    Delta-like 3 (Dll3) is a divergent ligand and modulator of the Notch signaling pathway only identified so far in mammals. Null mutations of Dll3 disrupt cycling expression of Notch targets Hes1, Hes5, and Lfng, but not of Hes7...
  23. pmc Ligand-dependent Notch signaling is involved in tumor initiation and tumor maintenance in pancreatic cancer
    Michael E Mullendore
    Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Clin Cancer Res 15:2291-301. 2009
    ..Aberrant activation of the Notch signaling pathway is commonly observed in human pancreatic cancer, although the mechanism(s) for this activation has not been elucidated...
  24. doi Gene expression profiling of human neural progenitor cells following the serum-induced astrocyte differentiation
    Shinya Obayashi
    Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, 2 522 1 Noshio, Kiyose, Tokyo, 204 8588, Japan
    Cell Mol Neurobiol 29:423-38. 2009
    ..ID2, ID3, CTGF, TGFA, METRN, GFAP, CRYAB and CSPG3, whereas it reduced the expression of 23 genes, such as DLL1, DLL3, PDGFRA, SOX4, CSPG4, GAS1 and HES5...
  25. doi Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis
    Duncan B Sparrow
    Developmental Biology Division, Victor ChangCardiac Research Institute, Darlinghurst, Sydney, NSW, Australia
    Hum Mol Genet 17:3761-6. 2008
    ..Previously, three genes causing a subset of autosomal recessive forms of this disease have been identified: DLL3 (SCDO1: MIM 277300), MESP2 (SCDO2: MIM 608681) and LFNG (SCDO3: MIM609813)...
  26. pmc The intracellular region of Notch ligands Dll1 and Dll3 regulates their trafficking and signaling activity
    Sara Farrah Heuss
    Unite de Signalisation Moleculaire et Activation Cellulaire, Unité de Recherche Associées 2582, Centre National de la Recherche Scientifique, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France
    Proc Natl Acad Sci U S A 105:11212-7. 2008
    ..a chimeric molecule encompassing the extracellular domain of Dll1 and the transmembrane/intracellular domain of Dll3, which contains no lysine, is endocytosed, recycled, and interacts with Notch1 but is unable to induce ..
  27. doi Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p
    David Coman
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 146:1972-6. 2008
    ..Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD.
  28. doi Anuran olfactory bulb organization: embryology, neurochemistry and hodology
    N Moreno
    Department of Biology, Faculty of Science, University Autonoma of Madrid, Spain
    Brain Res Bull 75:241-5. 2008
    ..interneurons in the developing olfactory bulbs by studying the expression patterns of the genes x-Eomes, x-Lhx5, x-Dll3 and x-Pax6...
  29. doi The role of Notch in patterning the human vertebral column
    Sally L Dunwoodie
    Developmental Biology Division, Victor Chang Cardiac Research Institute, 405 Liverpool Street, Darlinghurst, NSW 2010 Sydney, Australia
    Curr Opin Genet Dev 19:329-37. 2009
    ..More specifically it describes that mutations in genes encoding Notch pathway components (DLL3, MESP2, LFNG and HES7) cause severe congenital vertebral defects in humans...
  30. pmc The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain
    Xudong Zhao
    Institute for Cancer Genetics, Columbia University Medical Center, New York, NY 10032, USA
    Dev Cell 17:210-21. 2009
    ..Here we show that the ubiquitin ligase Huwe1 operates upstream of the N-Myc-DLL3-Notch pathway to control neural stem cell activity and promote neurogenesis...
  31. doi Mutations in the Notch pathway alter the patterning of multifidus
    Rebecca E Fisher
    Department of Basic Medical Sciences, The University of Arizona College of Medicine Phoenix, USA
    Anat Rec (Hoboken) 295:32-9. 2012
    ..process of segmentation is regulated by the Notch signaling pathway, and mutations in the modulators delta-like 3 (Dll3) and lunatic fringe (Lfng) are genetic models for spinal disorders such as scoliosis...
  32. pmc Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans
    Elly Sau Wai Ngan
    Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, China
    J Clin Invest 121:3467-78. 2011
    ..that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR...
  33. pmc Expression of Notch receptors, ligands, and target genes during development of the mouse mammary gland
    Ahmed Raafat
    Mammary Biology and Tumorigenesis Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Cell Physiol 226:1940-52. 2011
    ..The steady state levels of Notch3 mRNA are the highest among receptor genes, Jagged1 and Dll3 mRNA levels are the highest among ligand genes and Hey2 mRNA levels are highest among expressed Hes/Hey target ..
  34. doi Adult grade II diffuse astrocytomas are genetically distinct from and more aggressive than their paediatric counterparts
    David T W Jones
    Division of Molecular Histopathology, Department of Pathology, University of Cambridge, UK
    Acta Neuropathol 121:753-61. 2011
    ..expression of a number of genes putatively involved in neural stem cell maintenance and CNS development, including DLL3, HES5, BMP2, TIMP1 and BAMBI...
  35. doi Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)
    Walter E Berdon
    Department of Radiology, Columbia University College of Physicians and Surgeons, Morgan Stanley Children s Hospital of New York Presbyterian, New York, NY, USA
    Pediatr Radiol 41:384-8. 2011
    ..syndrome, causes mild to moderate respiratory insufficiency, is panethnic and has been linked to genes such as DLL3, which is known to be associated with the Notch pathway...
  36. doi A cell autonomous role for the Notch ligand Delta-like 3 in αβ T-cell development
    Gerard F Hoyne
    The Laboratory of T Cell Development and Regulation, John Curtin School of Medical Research, Australian National University Canberra, Canberra, Australian Capital Territory, Australia
    Immunol Cell Biol 89:696-705. 2011
    ..At present there is nothing known about the role of the Delta-like 3 (Dll3) ligand in the immune system. Here we describe a novel cell autonomous role for Dll3 in αβ T-cell development...
  37. doi Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis
    Gavin Chapman
    Developmental Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia
    Hum Mol Genet 20:905-16. 2011
    Mutations in the DELTA-LIKE 3 (DLL3) gene cause the congenital abnormal vertebral segmentation syndrome, spondylocostal dysostosis (SCD)...
  38. ncbi Defective somitogenesis and abnormal vertebral segmentation in man
    Peter D Turnpenny
    Clinical Genetics Department, Royal Devon and Exeter Hospital, Gladstone Road, Exeter EX1 2ED, United Kingdom
    Adv Exp Med Biol 638:164-89. 2008
    ..Only a minority of abnormal segmentation phenotypes appear to follow Mendelian inheritance but three genes--DLL3, MESP2 and LNFG--have now been identified for spondylocostal dysostosis (SCD), a spinal malformation characterized ..
  39. pmc The proneural molecular signature is enriched in oligodendrogliomas and predicts improved survival among diffuse gliomas
    Lee A D Cooper
    Center for Comprehensive Informatics, Emory University, Atlanta, Georgia, United States of America
    PLoS ONE 5:e12548. 2010
    ..of several genes including GLIS3, TGFB2, TNC, AURKA, and VEGFA in proneural GBMs, with corresponding loss of DLL3 and HEY2. Pathway analysis highlights the importance of the Notch and Hedgehog pathways in the proneural subtype...
  40. doi Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG
    Zoran S Gucev
    Medical Faculty Skopje, Divizija BB, Skopje, Macedonia
    Am J Med Genet A 152:1378-82. 2010
    ..generalized SDV, a broadly symmetrical thoracic cage, and result from mutations in Notch signaling pathway genes-DLL3, MESP2, LFNG, and HES7...
  41. pmc Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
    Duncan B Sparrow
    Developmental Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia
    Eur J Hum Genet 18:674-9. 2010
    ..Four genes causing a subset of autosomal recessive forms of this disease have been identified: DLL3 (SCDO1: MIM 277300), MESP2 (SCDO2: MIM 608681), LFNG (SCDO3: MIM609813) and HES7 (SCDO4)...
  42. doi Automatic reconstruction of the mouse segmentation network from an experimental evidence database
    Aitor Gonzalez
    Institute for Virus Research, Kyoto University, Shogoin Kawahara, Sakyo ku, Kyoto 606 8507, Japan
    Biosystems 102:16-21. 2010
    ..Two examples of such predictions are the direct transcriptional regulation of Dll3 and Fgf8 genes by the Rbpj and Ctnnb1 products, respectively...
  43. doi Evidences for tangential migrations in Xenopus telencephalon: developmental patterns and cell tracking experiments
    Nerea Moreno
    Department of Cell Biology, Faculty of Biology, University Complutense of Madrid, Spain
    Dev Neurobiol 68:504-20. 2008
    ..Combining developmental gene expression patterns (Pax6, Nkx2.1, Isl1, Lhx5, Lhx9, and Dll3), neurotransmitter identity (GABA, NOS, ChAT), and connectivity information, several types of putative migratory ..
  44. ncbi Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects
    Kathleen M Loomes
    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Dev Dyn 236:2943-51. 2007
    Mutations in the Notch1 receptor and delta-like 3 (Dll3) ligand cause global disruptions in axial segmental patterning...
  45. ncbi New mutant mouse with skeletal deformities caused by mutation in delta like 3 (Dll3) gene
    Yusuke Shinkai
    Graduate School of Natural Science and Technology, Okayama University, Tsushima Naka, Japan
    Exp Anim 53:129-36. 2004
    ..Linkage analysis localized the oma locus on the proximal region of mouse chromosome 7 close to Dll3 gene...
  46. pmc Mutated MESP2 causes spondylocostal dysostosis in humans
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Royal Devon and Exeter Hospital, Exeter EX2 5DW, United Kingdom
    Am J Hum Genet 74:1249-54. 2004
    ..We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis...
  47. ncbi Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression
    L T Raetzman
    Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109 0638, USA
    Dev Biol 265:329-40. 2004
    ..b>Dll3 is expressed only in the presumptive corticotrope and melanotrope cells...
  48. ncbi Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites
    Yu Takahashi
    Cellular and Molecular Toxicology Division, National Institute of Health Sciences, 1 18 1 Kamiyoga, Setagayaku, Tokyo 158 8501, Japan
    Development 130:4259-68. 2003
    ..Notch signal pathways with Notch ligands Dll1 and Dll3, and the transcription factor Mesp2 are implicated in the rostrocaudal patterning of the somite...
  49. ncbi A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
    L Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Clin Genet 64:28-35. 2003
    ..We tested the hypothesis that the molecular basis for this cluster was segregation of a single mutation in the DLL3 gene, recently linked to SD...
  50. ncbi Diverse requirements for Notch signalling in mammals
    Duncan B Sparrow
    Developmental Biology Unit, Victor Chang Cardiac Research Institute, Sydney, Australia
    Int J Dev Biol 46:365-74. 2002
    ..Mutations in the Notch ligand DELTA-LIKE 3 (DLL3) are responsible for cases of autosomal recessive SCD type I (SCDO1), and we are using information derived from these mutations to study the structure of the DLL3 protein...
  51. ncbi Segmentation defects of Notch pathway mutants and absence of a synergistic phenotype in lunatic fringe/radical fringe double mutant mice
    Nian Zhang
    Van Andel Research Institute, Grand Rapids, Michigan, USA
    Genesis 33:21-8. 2002
    ..in embryos mutant for the Notch pathway genes Notch1, Lunatic fringe (Lfng), Delta-like 1 (Dll1), and Delta-like 3 (Dll3)...
  52. ncbi When body segmentation goes wrong
    O Pourquie
    Laboratoire de génétique et de physiologie du développement LGPD, Developmental Biology Institute of Marseille IBDM, CNRS INSERM Universite de la Mediterranee AP de Marseille, Marseille, France
    Clin Genet 60:409-16. 2001
    ..In humans, mutations in genes required for oscillation, such as Delta-like 3 (DLL3), result in abnormal segmentation of the vertebral column, as found in spondylocostal dysostosis syndrome, ..
  53. ncbi Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
    P Iughetti
    Departamento de Biologia, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet 95:482-91. 2000
    ..The gene DLL3, mapped to 19q13 region, was recently found to be responsible for one form of AR SD; however, we did not find ..
  54. ncbi Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system
    K Kusumi
    Division of Developmental Neurobiology, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Mech Dev 100:141-4. 2001
    Defects in the Notch pathway ligand Dll3 have been identified in the mouse pudgy (Dll3(pu)) and human spondylocostal dysostosis (SD, MIM 277300) mutations...
  55. ncbi The mouse rib-vertebrae mutation disrupts anterior-posterior somite patterning and genetically interacts with a Delta1 null allele
    J Beckers
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Mech Dev 95:35-46. 2000
    ..Expression of Dll1, Dll3, Lfng and Notch1 is altered in rv mutant embryos, and rv and Dll1(lacZ), a null allele of the Notch ligand Delta1, ..
  56. ncbi The role of the epidermal growth factor-like protein dlk in cell differentiation
    J Laborda
    Laboratory of Immunobiology, Center for Biologics Evaluation and Research, Rockville, MD, USA
    Histol Histopathol 15:119-29. 2000
    ..and its homologues, as well as Notch ligands, such as Delta, Serrate, and their mammalian homologues Dll1, Dll2 and Dll3 and Jagged 1 and Jagged 2. (For a recent review see Fleming, 1998)...
  57. ncbi Mash1 regulates neurogenesis in the ventral telencephalon
    S Casarosa
    IGBMC, CNRS INSERM Universite Louis Pasteur, BP 163, CU de Strasbourg, France
    Development 126:525-34. 1999
    ..An analysis of candidate effectors of Mash1 function revealed that the Notch ligands Dll1 and Dll3, and the target of Notch signaling Hes5, fail to be expressed in Mash1 mutant ventral telencephalon...
  58. ncbi The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries
    K Kusumi
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Nat Genet 19:274-8. 1998
    ..and complementation, we have determined that the pu phenotype is caused by a mutation in the delta-like 3 gene (Dll3), which is homologous to the Notch-ligand Delta in Drosophila...
  59. ncbi Mouse Dll3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo
    S L Dunwoodie
    Department of Mammalian Development, National Institute for Medical Research, Mill Hill, London, UK
    Development 124:3065-76. 1997
    Mouse delta-like 3 (Dll3), a novel vertebrate homologue of the Drosophila gene Delta was isolated by a subtracted library screen...
  60. ncbi Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes
    Kenro Kusumi
    Divisions of Human Genetics and Orthopaedic Surgery, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Genesis 39:115-21. 2004
    Mutations in the notch ligand delta-like 3 have been identified in both the pudgy mouse (Dll3(pu); Kusumi et al.: Nat Genet 19:274-278, 1998) and the human disorder spondylocostal dysostosis (SCD; Bulman et al...
  61. ncbi Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations
    N V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Clin Genet 66:67-72. 2004
    ..We previously showed that mutations in delta-like 3 (DLL3), a somitogenesis gene that encodes a ligand for the notch signaling pathway, cause AR SCD with a consistent ..
  62. ncbi Dll3 is expressed in developing hair cells in the mammalian cochlea
    Byron H Hartman
    Department of Biological Structure, University of Washington, Seattle, Washington 98195, USA
    Dev Dyn 236:2875-83. 2007
    ..Here, we report that another Notch ligand, Dll3, is expressed in developing hair cells, in a pattern that overlaps that of Dll1 and Jag2...
  63. ncbi Disruption of the somitic molecular clock causes abnormal vertebral segmentation
    Duncan B Sparrow
    Developmental Biology Program, Victor Chang Cardiac Research Institute, Sydney, Australia
    Birth Defects Res C Embryo Today 81:93-110. 2007
    ..in this area with the identification that spondylocostal dysostosis (SCD) is caused by mutation in Delta-like 3 (DLL3), Mesoderm posterior 2 (MESP2), and Lunatic fringe (LFNG); three genes that are components of the Notch signaling ..
  64. ncbi Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl
    O Cogulu
    Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey
    Genet Couns 18:77-83. 2007
    ..Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene...
  65. ncbi Abnormal vertebral segmentation and the notch signaling pathway in man
    Peter D Turnpenny
    Clinical Genetics, Royal Devon and Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom
    Dev Dyn 236:1456-74. 2007
    ..Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD)...
  66. pmc Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model
    Dilusha A William
    Division of Human Genetics and Orthopaedic Surgery, Children s Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA
    Dev Biol 305:172-86. 2007
    ..Expression patterns of these genes were disrupted in Wnt3a(tm1Amc) mutants but not in Dll3(pu) mutants...
  67. ncbi Notch signaling in gastrointestinal tract (review)
    Masuko Katoh
    M and M Medical BioInformatics, Hongo 113 0033, Japan
    Int J Oncol 30:247-51. 2007
    Notch signaling is one of key pathways constituting the stem cell signaling network. DLL1, DLL3, DLL4, JAG1 and JAG2 with DSL domain are typical Notch ligands, while DNER, F3/Contactin and NB-3 without DSL domain are atypical Notch ..
  68. ncbi DLL3 as a candidate gene for vertebral malformations
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:2447-53. 2006
    ..Based on observations in mice, we hypothesized that mutations in DLL3, a member of the notch-signaling pathway, might contribute to human vertebral malformations...
  69. ncbi Molecular subclasses of high-grade glioma predict prognosis, delineate a pattern of disease progression, and resemble stages in neurogenesis
    Heidi S Phillips
    Department of Tumor Biology and Angiogenesis, Genentech, Inc, South San Francisco, California 94080, USA
    Cancer Cell 9:157-73. 2006
    ..A robust two-gene prognostic model utilizing PTEN and DLL3 expression suggests that Akt and Notch signaling are hallmarks of poor prognosis versus better prognosis gliomas, ..
  70. pmc Increased Wnt signaling triggers oncogenic conversion of human breast epithelial cells by a Notch-dependent mechanism
    Ayyakannu Ayyanan
    Swiss Institute for Experimental Cancer Research, National Center of Competence in Research in Molecular Oncology, 155 Chemin des Boveresses, CH 1066 Epalinges Lausanne, Switzerland
    Proc Natl Acad Sci U S A 103:3799-804. 2006
    ..Notch signaling is up-regulated through a mechanism involving increased expression of the Notch ligands Dll1, Dll3, and Dll4 and is required for expression of the tumorigenic phenotype...
  71. ncbi Expression of Notch signaling pathway genes in mouse embryos lacking beta4galactosyltransferase-1
    Jihua Chen
    Department of Cell Biology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, New York, NY 10461, USA
    Gene Expr Patterns 6:376-82. 2006
    ..The Notch ligand genes Dll1 and Dll3 were reduced or altered in expression in a significant proportion of mutants...
  72. pmc Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
    D B Sparrow
    Developmental Biology Program, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia
    Am J Hum Genet 78:28-37. 2006
    ..Previously, we had identified two genes that cause a subset of autosomal recessive forms of this disease: DLL3 (SCD1) and MESP2 (SCD2)...
  73. pmc The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands
    Ena Ladi
    Department of Biological Chemistry, Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
    J Cell Biol 170:983-92. 2005
    ..Understanding how Dll3 functions is complicated by reports that DSL ligands both activate and inhibit N signaling...
  74. ncbi Involvement of SIP1 in positioning of somite boundaries in the mouse embryo
    Mitsuji Maruhashi
    Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan
    Dev Dyn 234:332-8. 2005
    ..g., Fgf8, Wnt3a, Dll3, and Tbx6...
  75. ncbi Identification of Dll1 (Delta1) target genes during mouse embryogenesis using differential expression profiling
    C Machka
    Institute of Experimental Genetics, GSF National Research Center, Ingolstadter Landstr 1, 85764 Neuherberg, Germany
    Gene Expr Patterns 6:94-101. 2005
    ..homozygous for the Headturner (Htu) and pudgy (pu) mutations, which are alleles of the Notch ligands Jag1 and Dll3. The regulated expression of a subset of the proteins was validated by immunoblots...
  76. ncbi Molecular analysis of congenital scoliosis: a candidate gene approach
    Melissa K Maisenbacher
    Division of Human Genetics, The Children s Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104 4318, USA
    Hum Genet 116:416-9. 2005
    ..The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation...
  77. ncbi Xenopus Distal-less related homeobox genes are expressed in the developing forebrain and are induced by planar signals
    N Papalopulu
    Molecular Neurobiology Laboratory, Salk Institute, La Jolla, CA 92037
    Development 117:961-75. 1993
    ..X-dll2, which belongs to a separate subfamily than X-dll3 and 4, is not expressed in the neural ectoderm...

Research Grants8

  1. Molecular Analysis of the Segmentation Clock
    Olivier Pourquie; Fiscal Year: 2006
    ..since in humans mutations in the genes associated with the function of this oscillator such as delta-like 3 (dll3) result in abnormal segmentation of the vertebral column similar to that seen in the spondylocostal dysostosis ..
  2. GENETIC ANALYSIS OF THE NOTCH SIGNALING PATHWAY
    Thomas Gridley; Fiscal Year: 2007
    ..receptors interact with membrane-bound ligands that are encoded by the Jagged (Jag1 and Jag2) and Delta-like (Dlll, Dll3, and Dll4) gene families...