Hoxd13

Summary

Gene Symbol: Hoxd13
Description: homeobox D13
Alias: Hox-4.8, spdh, homeobox protein Hox-D13, homeo box D13, homeobox protein Hox-4.8
Species: mouse

Top Publications

  1. pmc Mechanisms of Hox gene colinearity: transposition of the anterior Hoxb1 gene into the posterior HoxD complex
    M Kmita
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, 1211 Geneva 4, Switzerland
    Genes Dev 14:198-211. 2000
  2. ncbi Evolutionary conserved sequences are required for the insulation of the vertebrate Hoxd complex in neural cells
    Marie Kmita
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, Switzerland
    Development 129:5521-8. 2002
  3. ncbi Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs
    Marie Kmita
    Department of Zoology and Animal Biology, NCCR Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Nature 420:145-50. 2002
  4. ncbi A global control region defines a chromosomal regulatory landscape containing the HoxD cluster
    Francois Spitz
    Department of Zoology and Animal Biology, NCCR Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Cell 113:405-17. 2003
  5. doi Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb
    Natalie C Butterfield
    The University of Queensland, Institute for Molecular Bioscience, Queensland, Australia
    Development 136:3515-24. 2009
  6. ncbi BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning
    G Luo
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Genes Dev 9:2808-20. 1995
  7. ncbi Essential roles of retinoic acid signaling in interdigital apoptosis and control of BMP-7 expression in mouse autopods
    V Dupé
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, CNRS INSERM ULP College de France, Illkirch Cedex, C U de Strasbourg, 67404, France
    Dev Biol 208:30-43. 1999
  8. ncbi Wnt-3a is required for somite specification along the anteroposterior axis of the mouse embryo and for regulation of cdx-1 expression
    M Ikeya
    Center for Molecular and Developmental Biology, Graduate School of Science, Kyoto University, Kitashirakawa, Sakyo ku, 606 8502, Kyoto, Japan
    Mech Dev 103:27-33. 2001
  9. ncbi HOX-4 genes and the morphogenesis of mammalian genitalia
    P Dolle
    European Molecular Biology Laboratory, Heidelberg, Germany
    Genes Dev 5:1767-7. 1991
  10. ncbi Gene transpositions in the HoxD complex reveal a hierarchy of regulatory controls
    F van der Hoeven
    Department of Zoology and Animal Biology, University of Geneva, Switzerland
    Cell 85:1025-35. 1996

Research Grants

  1. ROLES OF SOX C GENES IN SKELETOGENESIS
    VERONIQUE M LEFEBVRE; Fiscal Year: 2010
  2. GENETIC ANALYSIS OF EARLY LIMB DEVELOPMENT
    Arend Sidow; Fiscal Year: 2004
  3. The ProPhylER Database and Web Resource
    Arend Sidow; Fiscal Year: 2006
  4. The Ciona savignyi Genetic Map
    Arend Sidow; Fiscal Year: 2008

Scientific Experts

  • VERONIQUE M LEFEBVRE
  • Alexander R Moise
  • David A F Loebel
  • S M Bell
  • Ottheinz Krebs
  • K R Johnson
  • Arend Sidow
  • Udayan Guha
  • D Bueno
  • Lia Panman
  • Aimee Zuniga
  • C Chiang
  • Haruhiko Akiyama
  • Pengfei Lu
  • Antonella Galli
  • Denis Duboule
  • D Duboule
  • Marie Kmita
  • Thomas M Williams
  • Thomas Montavon
  • Valentina Salsi
  • T Kondo
  • Melissa E Williams
  • J Zakany
  • Francois Spitz
  • Jozsef Zakany
  • Jeffrey W Innis
  • Christopher Slape
  • Vincenzo Zappavigna
  • Rushikesh Sheth
  • Yann Herault
  • Ma Carmen González-Martín
  • Federico Gonzalez
  • Abdul Gafoor Puthiyaveetil
  • Basile Tarchini
  • Xuming Zhu
  • Moises Mallo
  • Laurie Thevenet
  • Xin Sun
  • R Haraguchi
  • Chi Kuang Leo Wang
  • Sanne Kuijper
  • Ben Xu
  • Hyuk Wan Ko
  • M Kmita
  • Congxing Lin
  • Dai Suzuki
  • Chul Won Choi
  • Yasuhiko Kawakami
  • Teddy Young
  • Natalie C Butterfield
  • Ashley W Seifert
  • Danielle M Maatouk
  • Zhen Zhang
  • Setsu Endoh-Yamagami
  • Don A Cameron
  • Jean Denis Bénazet
  • Christian Babbs
  • Peter D Aplan
  • Irene Delgado
  • Regina Raz
  • A P McMahon
  • Y Herault
  • Keiiti Anan
  • Chengbing Wang
  • Terence D Capellini
  • Carla Tribioli
  • Maria Immacolata Ferrante
  • Baolin Wang
  • Rolf Zeller
  • Martin J Cohn
  • Aimin Liu
  • Stefan Mundlos
  • Sigmar Stricker
  • John Cobb
  • Yuting Chen
  • Kenta Yashiro
  • H Moribe
  • X Warot
  • Frits Meijlink
  • Ignacio Monge
  • T Takagi
  • C L Peichel
  • C Fromental-Ramain
  • J Heymer
  • Claire L Perriton
  • Ying Litingtung
  • Anne M Boulet
  • Andrea N Albrecht
  • Ying Liu

Detail Information

Publications115 found, 100 shown here

  1. pmc Mechanisms of Hox gene colinearity: transposition of the anterior Hoxb1 gene into the posterior HoxD complex
    M Kmita
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, 1211 Geneva 4, Switzerland
    Genes Dev 14:198-211. 2000
    ..Furthermore, the transgene induced a transient ectopic activation of the neighboring Hoxd13 gene, without affecting other genes of the complex...
  2. ncbi Evolutionary conserved sequences are required for the insulation of the vertebrate Hoxd complex in neural cells
    Marie Kmita
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, Switzerland
    Development 129:5521-8. 2002
    ..These results suggest that insulation of this important gene cluster relies, at least in part, upon a sequence-specific mechanism that displays some redundancy...
  3. ncbi Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs
    Marie Kmita
    Department of Zoology and Animal Biology, NCCR Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Nature 420:145-50. 2002
    ....
  4. ncbi A global control region defines a chromosomal regulatory landscape containing the HoxD cluster
    Francois Spitz
    Department of Zoology and Animal Biology, NCCR Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Cell 113:405-17. 2003
    ..These domains were interrupted in the Ulnaless mutation, a balanced inversion that modified the topography of the locus. We discuss the heuristic value of these results in term of locus specific versus gene-specific regulation...
  5. doi Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb
    Natalie C Butterfield
    The University of Queensland, Institute for Molecular Bioscience, Queensland, Australia
    Development 136:3515-24. 2009
    ..These results establish the importance of the downstream consequences of Hh pathway repression, and identify Ptc1 as a key player in limb patterning even prior to the onset of Shh expression...
  6. ncbi BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning
    G Luo
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Genes Dev 9:2808-20. 1995
    ..In addition, BMP-7-deficient mice have eye defects that appear to originate during lens induction. Finally, BMP-7-deficient mice also have skeletal patterning defects restricted to the rib cage, the skull, and the hindlimbs...
  7. ncbi Essential roles of retinoic acid signaling in interdigital apoptosis and control of BMP-7 expression in mouse autopods
    V Dupé
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, CNRS INSERM ULP College de France, Illkirch Cedex, C U de Strasbourg, 67404, France
    Dev Biol 208:30-43. 1999
    ..Therefore, RA may exert some of its effects on anteroposterior autopod patterning through controlling BMP-7 expression...
  8. ncbi Wnt-3a is required for somite specification along the anteroposterior axis of the mouse embryo and for regulation of cdx-1 expression
    M Ikeya
    Center for Molecular and Developmental Biology, Graduate School of Science, Kyoto University, Kitashirakawa, Sakyo ku, 606 8502, Kyoto, Japan
    Mech Dev 103:27-33. 2001
    ..These results indicate that Wnt-3a is necessary for correct anteroposterior patterning of vertebra, and that cdx-1 may be one of the mediator genes of Wnt-3a signaling in this process...
  9. ncbi HOX-4 genes and the morphogenesis of mammalian genitalia
    P Dolle
    European Molecular Biology Laboratory, Heidelberg, Germany
    Genes Dev 5:1767-7. 1991
    ..We also show that genital tubercle mesenchyme can respecify pattern in the chicken wing bud. This finding reinforces the concept of the uniformity in the patterning mechanisms along the various axes of the body...
  10. ncbi Gene transpositions in the HoxD complex reveal a hierarchy of regulatory controls
    F van der Hoeven
    Department of Zoology and Animal Biology, University of Geneva, Switzerland
    Cell 85:1025-35. 1996
    ..These results suggest that high order regulation controls the activation of Hox genes and highlight three important constraints responsible for the conservation of Hox gene clustering...
  11. ncbi Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod
    C Fromental-Ramain
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
    Development 122:2997-3011. 1996
    ....
  12. ncbi Synpolydactyly in mice with a targeted deficiency in the HoxD complex
    J Zakany
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Switzerland
    Nature 384:69-71. 1996
    ..seen in a human synpolydactyly, suggesting that this syndrome, which is associated with a subtle mutation in HOXD13 (ref. 8), may involve the loss of function of several Hoxd genes...
  13. ncbi Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development
    D Buscher
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, Germany
    Mech Dev 62:175-82. 1997
    ..This data suggest that Gli3 is a regulator of Shh expression in mouse limb development...
  14. ncbi Of fingers, toes and penises
    T Kondo
    Nature 390:29. 1997
  15. pmc Regulation of number and size of digits by posterior Hox genes: a dose-dependent mechanism with potential evolutionary implications
    J Zakany
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Proc Natl Acad Sci U S A 94:13695-700. 1997
    ..Thus, transition through a polydactylous limb before reaching and stabilizing the pentadactyl pattern may have relied, at least in part, on asynchronous and independent changes in the regulation of HoxA and HoxD gene complexes...
  16. ncbi Sonic hedgehog is not required for polarising activity in the Doublefoot mutant mouse limb bud
    C Hayes
    Department of Human Anatomy, University of Oxford, UK
    Development 125:351-7. 1998
    ..of the direct Shh target genes Ptc and Gli, and induction of the downstream target genes Bmp2, Fgf4 and Hoxd13. The expression domains of all these genes extend from their normal posterior domains into the anterior part of ..
  17. ncbi Genetic analysis of a Hoxd-12 regulatory element reveals global versus local modes of controls in the HoxD complex
    Y Herault
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Geneva, Switzerland
    Development 125:1669-77. 1998
    ..These results support a model whereby global as well as local regulatory influences are necessary to build up the complex expression patterns of Hoxd genes during limb development...
  18. ncbi Control of colinearity in AbdB genes of the mouse HoxD complex
    T Kondo
    Department of Zoology and Animal Biology, University of Geneva, Switzerland
    Mol Cell 1:289-300. 1998
    ....
  19. ncbi Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling
    Y Yang
    Department of Molecular and Cellular Biology, The Biolabs, Harvard University, Cambridge, MA 02138, USA
    Development 125:3123-32. 1998
    ..the ectopic activation of several genes associated with anterior-posterior and proximal-distal patterning (Fgf4, Hoxd13, Bmp2)...
  20. ncbi A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo
    T P Yamaguchi
    Department of Molecular and Cellular Biology, Biological Laboratories, Harvard University, Cambridge, MA 02138, USA
    Development 126:1211-23. 1999
    ..The reduced number of proliferating cells in both the progress zone and the primitive streak mesoderm suggests that one function of Wnt5a is to regulate the proliferation of progenitor cells...
  21. ncbi Hox gene expression in limbs: colinearity by opposite regulatory controls
    Y Herault
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, Geneva 4, 1211, Switzerland
    Dev Biol 208:157-65. 1999
    ..development, their functional domains are colinear with their genomic positions within the HoxD cluster such that Hoxd13 and Hoxd12 are necessary for digit development, whereas Hoxd11 and Hoxd10 are involved in making forearms...
  22. ncbi Hoxa-13 gene mutation results in abnormal seminal vesicle and prostate development
    C A Podlasek
    Department of Urology, Northwestern University Medical School, Chicago, IL, USA
    J Urol 161:1655-61. 1999
    ..The similarity in expression and overlap in phenotype resulting from mutation is consistent with additive function and partial functional redundancy of Hoxa-13 and Hoxd-13 in male accessory sex organ development...
  23. ncbi Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation
    R Haraguchi
    Center for Animal Resources and Development CARD, Kumamoto University, Honjo 2 2 1, Kumamoto 860 0811, Japan
    Development 127:2471-9. 2000
    ..distal urethral plate epithelium of the genital tubercle (GT) together with other markers such as the Msx1, Fgf10, Hoxd13 and Bmp4 expressed in the mesenchyme...
  24. ncbi Targeted inversion of a polar silencer within the HoxD complex re-allocates domains of enhancer sharing
    M Kmita
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Geneva, Switzerland
    Nat Genet 26:451-4. 2000
    ..This polar silencer appears to limit the number of genes that respond to one type of regulation and thus indicates how separate regulatory domains may be implemented within intricate gene clusters...
  25. ncbi Fgf8 signalling from the AER is essential for normal limb development
    M Lewandoski
    Department of Anatomy and Program in Developmental Biology, School of Medicine, San Francisco, California, USA
    Nat Genet 26:460-3. 2000
    ..Our data identify Fgf8 as the only known AER-Fgf individually necessary for normal limb development, and provide insight into the function of Fgf signalling from the AER in the normal outgrowth and patterning of the limb...
  26. ncbi Some distal limb structures develop in mice lacking Sonic hedgehog signaling
    P Kraus
    Ronald O Perelman Department of Dermatology, New York University School of Medicine, NY, New York, USA
    Mech Dev 100:45-58. 2001
    ..The presence of distal autopod elements is consistent with weak expression of Hoxd13 in Shh(-/-) hindlimbs...
  27. ncbi Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function
    C Chiang
    Department of Cell Biology, Vanderbilt University Medical Center, 1161 21st Avenue South, Nashville, Tennessee 37232, USA
    Dev Biol 236:421-35. 2001
    ..According to this model, the limb bud signaling centers, including the zone of polarizing activity (ZPA) acting through Shh, are required to elaborate upon the axial information provided by the native limb field prepattern...
  28. pmc Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations
    F Spitz
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, 1211 Geneva 4, Switzerland
    Genes Dev 15:2209-14. 2001
    ..Accordingly, deletion of the entire cluster abolished axial expression, whereas recently acquired regulatory controls were preserved...
  29. ncbi Unique functions of Sonic hedgehog signaling during external genitalia development
    R Haraguchi
    Center for Animal Resources and Development CARD and Graduate School of Molecular and Genomic Pharmacy, Kumamoto University, Honjo 2 2 1, Kumamoto 860 0811, Japan
    Development 128:4241-50. 2001
    ..that Shh could regulate mesenchymally expressed genes, patched 1 (Ptch1), bone morphogenetic protein 4 (Bmp4), Hoxd13 and fibroblast growth factor 10 (Fgf10), in the anlage: the genital tubercle (GT)...
  30. ncbi Sonic hedgehog signaling from the urethral epithelium controls external genital development
    Claire L Perriton
    Division of Zoology, University of Reading, Whiteknights, United Kingdom
    Dev Biol 247:26-46. 2002
    ....
  31. ncbi Functions of FGF signalling from the apical ectodermal ridge in limb development
    Xin Sun
    Department of Anatomy and Program in Developmental Biology, School of Medicine, University of California at San Francisco, 94143 0452, USA
    Nature 418:501-8. 2002
    ..In the complete absence of both FGF4 and FGF8 activities, limb development fails. We present a model to explain how the mutant phenotypes arise from FGF-mediated effects on limb bud size and cell survival...
  32. ncbi Mouse Twist is required for fibroblast growth factor-mediated epithelial-mesenchymal signalling and cell survival during limb morphogenesis
    Aimee Zuniga
    Department of Developmental Biology, Faculty of Biology, Utrecht University, Padualaan 8, 3584 CH Utrecht, The Netherlands
    Mech Dev 114:51-9. 2002
    ..Finally, Twist function, most likely by regulating FGF signalling, is required for cell survival as apoptotic cells are detected in posterior and distal limb bud mesenchyme...
  33. ncbi In vivo evidence that BMP signaling is necessary for apoptosis in the mouse limb
    Udayan Guha
    Department of Nueroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Dev Biol 249:108-20. 2002
    ..These abnormalities were rescued by coexpressing BMP4 under the same promoter in double transgenic mice, suggesting that the limb abnormalities are a direct effect of inhibiting BMP signaling...
  34. ncbi An enhancer-titration effect induces digit-specific regulatory alleles of the HoxD cluster
    Ignacio Monge
    Department of Zoology and Animal Biology and NCCR Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 11, Switzerland
    Dev Biol 256:212-20. 2003
    ..We report here that these targeted relocations behaved as hypomorphic alleles of the distantly located gene Hoxd13 and showed that posterior Hoxd genes located in cis with the integration site were down-regulated...
  35. ncbi Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh
    Yuting Chen
    Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD 20892, USA
    Development 131:2339-47. 2004
    ..The resulting altered balance between 'effective' Gli3 activating and repressing functions may also serve to extend the Shh activity gradient spatially or temporally...
  36. ncbi Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction
    Thomas M Williams
    Department of Human Genetics, University of Michigan, Med Sci II 4811, Ann Arbor, MI 48109 0618, USA
    Dev Biol 277:457-71. 2005
    ..We show that Hoxa13 and Hoxd13 expression does not overlap with that of Meis1-3 in the developing limb; however, coexpression occurs in the ..
  37. ncbi Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability
    Thomas M Williams
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Dev Biol 279:462-80. 2005
    ..b>HOXD13 similarly activated/repressed 6 tested candidates, demonstrating that multiple downstream genetic pathways may be ..
  38. ncbi Comparative analysis of genes downstream of the Hoxd cluster in developing digits and external genitalia
    John Cobb
    National Research Center NCCR Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Development 132:3055-67. 2005
    ..e. the digits and the penis/clitoris...
  39. ncbi Genetic interaction of Gli3 and Alx4 during limb development
    Lia Panman
    Department of Developmental Biology, Utrecht University, Utrecht, The Netherlands
    Int J Dev Biol 49:443-8. 2005
    ..Most interestingly, the loss of the severe preaxial polydactyly characteristic of Gli3-/- limbs in double mutant embryos establishes that this type of polydactyly requires Alx4 function...
  40. pmc Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability
    Thomas M Williams
    Department of Human Genetics, University of Michigan Ann Arbor, MI, USA
    Nucleic Acids Res 33:4475-84. 2005
    ..Among the interactors, we isolated the BMP-signaling effector Smad5, which interacted with the paralogous HOXD13 but not with HOXA11 or HOXA9, revealing unique interaction capabilities of the AbdB-like HOX proteins...
  41. ncbi Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
    Maria Immacolata Ferrante
    Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
    Nat Genet 38:112-7. 2006
    ....
  42. ncbi Control of Hoxd genes' collinearity during early limb development
    Basile Tarchini
    Department of Zoology and Animal Biology and National Research Centre Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Dev Cell 10:93-103. 2006
    ....
  43. ncbi Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression
    Terence D Capellini
    Department of Cell and Developmental Biology, Cornell University Weill Medical School, New York, NY 10021, USA
    Development 133:2263-73. 2006
    ....
  44. ncbi Differential regulation of gene expression in the digit forming area of the mouse limb bud by SHH and gremlin 1/FGF-mediated epithelial-mesenchymal signalling
    Lia Panman
    Developmental Genetics, DKBW Centre for Biomedicine, University of Basel Medical School, Mattenstrasse 28, CH 4058 Basel, Switzerland
    Development 133:3419-28. 2006
    ..In particular, the expression of Hoxd13 depends on SHH signal transduction significantly longer than does Hoxd11 expression, revealing that the reverse co-..
  45. pmc The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning
    Chengbing Wang
    Department of Genetic Medicine, Weill Medical College of Cornell University, 1300 York Avenue, W404, New York, NY 10021, USA
    Dev Biol 305:460-9. 2007
    ....
  46. ncbi Transgenic analysis of Hoxd gene regulation during digit development
    Federico Gonzalez
    National Center for Competence in Research Frontiers in Genetics, Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Dev Biol 306:847-59. 2007
    ..Based on DNA sequence conservation and transgenic assays, we discuss the functions of these regulatory regions as well as a potential evolutionary scheme accounting for their emergence along with the evolution of tetrapod limbs...
  47. ncbi Hoxd and Gli3 interactions modulate digit number in the amniote limb
    Rushikesh Sheth
    Departamento de Anatomia y Biologia Celular, Universidad de Cantabria, 39011, Santander, Spain
    Dev Biol 310:430-41. 2007
    ..Our results also support the notion that an adequate balance between positive and negative effects of different Hoxd genes is required for pentadactyly...
  48. doi A self-regulatory system of interlinked signaling feedback loops controls mouse limb patterning
    Jean Denis Bénazet
    Developmental Genetics, Department of Biomedicine, University of Basel, Mattenstrasse 28, CH 4058 Basel, Switzerland
    Science 323:1050-3. 2009
    ..This self-regulatory signaling network results in robust regulation of distal limb development that is able to compensate for variations by interconnectivity among the three signaling pathways...
  49. pmc Functional and phylogenetic analysis shows that Fgf8 is a marker of genital induction in mammals but is not required for external genital development
    Ashley W Seifert
    Department of Zoology, UF Genetics Institute, University of Florida, Gainesville, FL 32611, USA
    Development 136:2643-51. 2009
    ..We propose that induction of external genitalia involves an epithelial-epithelial interaction at the cloacal membrane, and suggest that the cloacal ectoderm may be the source of the genital initiation signal...
  50. pmc Temporal and spatial dissection of Shh signaling in genital tubercle development
    Congxing Lin
    Division of Dermatology, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Development 136:3959-67. 2009
    ..endoderm genetically, we revealed that Shh relays its signal partly through the dUE, but regulates Hoxa13 and Hoxd13 expression independently of dUE signaling...
  51. pmc Axial Hox9 activity establishes the posterior field in the developing forelimb
    Ben Xu
    Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan, Ann Arbor, MI 48109 2200, USA
    Proc Natl Acad Sci U S A 108:4888-91. 2011
    ..This Hox9 mutant phenotype is restricted to the forelimbs; mutant hindlimbs are normal, revealing fundamental differences in the patterning mechanisms governing the establishment of forelimb and hindlimb fields...
  52. doi Wls-mediated Wnts differentially regulate distal limb patterning and tissue morphogenesis
    Xuming Zhu
    Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Graduate School of the Chinese Academy of Sciences, China
    Dev Biol 365:328-38. 2012
    ..These findings provide a comprehensive view of the role of Wnts in limb patterning and tissue morphogenesis...
  53. ncbi Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts
    X Warot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP College de France, Illkirch, CU de Strasbourg
    Development 124:4781-91. 1997
    ....
  54. ncbi Gli3 (Xt) and formin (ld) participate in the positioning of the polarising region and control of posterior limb-bud identity
    A Zuniga
    EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Development 126:13-21. 1999
    ..Concurrently, Gli3 functions independently of formin during initial posterior nesting of 5'HoxD domains, whereas their subsequent distal restriction and anterior expansion depends on genetic interaction of Gli3 and formin...
  55. ncbi Breaking colinearity in the mouse HoxD complex
    T Kondo
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Switzerland
    Cell 97:407-17. 1999
    ..These data suggest that a regulatory element located upstream of the complex is necessary for setting up the early pattern of Hox gene colinear activation...
  56. ncbi Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity
    Ying Litingtung
    Vanderbilt University Medical Center, Department of Cell and Developmental Biology, Nashville, Tennessee 37232, USA
    Nature 418:979-83. 2002
    ....
  57. ncbi A dual role for Hox genes in limb anterior-posterior asymmetry
    Jozsef Zakany
    Department of Zoology and Animal Biology and National Program Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Science 304:1669-72. 2004
    ..in the mouse HoxD cluster, we found that a perturbation in the early collinear expression of Hoxd11, Hoxd12, and Hoxd13 in limb buds led to a loss of asymmetry...
  58. ncbi Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors
    Aimin Liu
    Department of Pediatrics, University of Colorado at Denver and Health Sciences Center, Mailstop 8322, Box 6511, Aurora, CO 80045, USA
    Development 132:3103-11. 2005
    ..In summary, our results indicate that IFT function is crucial in the control of both the positive and negative transcriptional activities of Gli proteins, and essential for Hh ligand-induced signaling cascade...
  59. ncbi Interactions between HOXD and Gli3 genes control the limb apical ectodermal ridge via Fgf10
    Jozsef Zakany
    Department of Zoology and Animal Biology and National Research Centre Frontiers in Genetics, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Dev Biol 306:883-93. 2007
    ..The nature of these potential interactions is discussed in the context of proximal-distal growth and patterning...
  60. ncbi Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice
    L C Post
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Int J Dev Biol 43:287-94. 1999
    ..Expression of Hoxd13 was unaffected in Hoxa13-/- mice, but its domain was reduced at the anterior and posterior margins of the autopod ..
  61. ncbi Progression of vertebrate limb development through SHH-mediated counteraction of GLI3
    Pascal te Welscher
    Department of Developmental Biology, Faculty of Biology, Utrecht University, Padualaan 8, NL 3584 CH Utrecht, Netherlands
    Science 298:827-30. 2002
    ..Our genetic analysis indicates that SHH signaling counteracts GLI3-mediated repression of key regulator genes, cell survival, and distal progression of limb bud development...
  62. ncbi Double labeling for whole-mount in situ hybridization in mouse
    J Hecksher-Sørensen
    Department of Developmental Genetics, MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
    Biotechniques 24:914-6, 918. 1998
  63. doi The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome
    Regina Raz
    Regeneron Pharmaceuticals, Inc, Tarrytown, NY, USA
    Development 135:1713-23. 2008
    ..Therefore, Ror2(W749FLAG/W749FLAG) mice represent a postnatal model for RRS, provide insight into the mechanism of joint specification, and uncover novel roles of Ror2 in the mouse...
  64. pmc Non-homologous end joining mediated DNA repair is impaired in the NUP98-HOXD13 mouse model for myelodysplastic syndrome
    Abdul Gafoor Puthiyaveetil
    Laboratory of Molecular Pathology, Center for Molecular Medicine and Infectious Diseases, Virginia Tech, Blacksburg, VA 24061, USA
    Leuk Res 37:112-6. 2013
    ..To delineate the role of leukemic translocation NUP98-HOXD13 (NHD13) in secondary mutagenesis, DNA break and repair mechanisms in stimulated mouse B lymphocytes expressing ..
  65. pmc Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus
    Thomas Montavon
    National Research Centre Frontiers in Genetics, School of Life Sciences, Ecole Polytechnique Federale, 1015 Lausanne, Switzerland
    Proc Natl Acad Sci U S A 109:20204-11. 2012
    ..These results illustrate the detrimental consequences of interrupting highly conserved regulatory landscapes and reveal a mechanism where genomic duplications lead to partial loss of function of nearby located genes...
  66. doi Long bone development requires a threshold of Hox function
    Ma Carmen González-Martín
    Instituto de Biomedicina y Biotecnología de Cantabria IBBTEC, CSIC Universidad de Cantabria SODERCAN, 39011 Santander, Spain
    Dev Biol 392:454-65. 2014
    ..Our results support Hox genes being required in a dose-dependent manner for long bone cartilage maturation and suggest that and excess of Gli3R mediates a significant part of the Hoxd(Del(11-13)) chondrogenic phenotype. ..
  67. doi A regulatory archipelago controls Hox genes transcription in digits
    Thomas Montavon
    National Research Centre, Frontiers in Genetics, School of Life Sciences, Ecole Polytechnique Federale, Lausanne, Switzerland
    Cell 147:1132-45. 2011
    ....
  68. doi Regionalized Twist1 activity in the forelimb bud drives the morphogenesis of the proximal and preaxial skeleton
    David A F Loebel
    Embryology Unit, Children s Medical Research Institute, Sydney, Australia
    Dev Biol 362:132-40. 2012
    ....
  69. ncbi Targeted disruption of Hoxd-10 affects mouse hindlimb development
    E M Carpenter
    Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, CA 90024, USA
    Development 124:4505-14. 1997
    ....
  70. pmc Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos
    J Partanen
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto M5G 1X5, Canada
    Genes Dev 12:2332-44. 1998
    ....
  71. ncbi Expression of murine HOXD9 during embryonic joint patterning and in human T lymphotropic virus type I tax transgenic mice with arthropathy resembling rheumatoid arthritis
    N D Khoa
    St Marianna University School of Medicine, Kawasaki, Japan
    Arthritis Rheum 42:686-96. 1999
    ..To characterize the expression of murine HOXD9 during normal joint development and in arthritic joints of human T lymphotropic virus type I (HTLV-I) tax transgenic mice and the role of HTLV-I tax in HOXD9 expression...
  72. ncbi Targeted misexpression of constitutively active BMP receptor-IB causes bifurcation, duplication, and posterior transformation of digit in mouse limb
    Z Zhang
    Department of Oral Biology, University of Oslo, Oslo, 0316, Norway
    Dev Biol 220:154-67. 2000
    ..In addition, BMPR-IB may represent a critical component in the Shh/FGF4 feedback loop by regulating Gremlin expression...
  73. ncbi Plzf regulates limb and axial skeletal patterning
    M Barna
    Department of Human Genetics and Molecular Biology Program, Memorial Sloan Kettering Cancer Center, Sloan Kettering Division, Graduate School of Medical Sciences, Cornell University, New York, New York, USA
    Nat Genet 25:166-72. 2000
    ..Plzf is therefore a mediator of anterior-to-posterior (AP) patterning in both the axial and appendicular skeleton and acts as a regulator of Hox gene expression...
  74. ncbi Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb
    Kenta Yashiro
    Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Suita, Japan
    Dev Cell 6:411-22. 2004
    ..These observations suggest that RA acts as a morphogen to determine proximodistal identity, and that CYP26B1 prevents apoptosis and promotes chondrocyte maturation, in the developing limb...
  75. ncbi Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs
    Valentina Salsi
    Department of Animal Biology, University of Modena and Reggio Emilia, Via G Campi 213 d, Modena 41100, Italy
    J Biol Chem 281:1992-9. 2006
    ..The expression of the EphA7 gene in developing limbs was shown to correlate with the expression of Hoxa13 and Hoxd13; however, its direct regulation by these genes has never been assessed...
  76. ncbi Bapx1 homeobox gene gain-of-function mice show preaxial polydactyly and activated Shh signaling in the developing limb
    Carla Tribioli
    Institute of Molecular Genetics, CNR, Pavia, Italy
    Dev Dyn 235:2483-92. 2006
    ..We conclude that it is reasonable to expect overexpression of Bapx1 in certain forms of polydactyly...
  77. pmc The apical ectodermal ridge is a timer for generating distal limb progenitors
    Pengfei Lu
    Department of Anatomy and Program in Developmental Biology, University of California at San Francisco, San Francisco, CA 94143 0452, USA
    Development 135:1395-405. 2008
    ..Taken together, we have uncovered a novel mechanism, whereby the AER regulates the number of autopod progenitors by determining the onset of their generation...
  78. doi In the limb AER Bmp2 and Bmp4 are required for dorsal-ventral patterning and interdigital cell death but not limb outgrowth
    Danielle M Maatouk
    Department of Molecular Genetics and Microbiology and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32611, USA
    Dev Biol 327:516-23. 2009
    ..Our data suggests that AER expression of Bmp2 and Bmp4 is required for digit and dorsal-ventral patterning but surprisingly not for limb outgrowth...
  79. doi Tulp3 is a critical repressor of mouse hedgehog signaling
    Don A Cameron
    Department of Biochemistry, Cancer Research Institute, Queen s University, Kingston, Ontario, Canada
    Dev Dyn 238:1140-9. 2009
    ..This work uncovers a novel role for Tulp3 as a negative regulatory factor in the Hh pathway...
  80. doi Essential mesenchymal role of small GTPase Rac1 in interdigital programmed cell death during limb development
    Dai Suzuki
    Department of Biochemistry, Showa University, Hatanodai, Shinagawa, Tokyo, Japan
    Dev Biol 335:396-406. 2009
    ..Our findings from Rac1 conditional mutants indicate crucial roles for Rac1 in limb bud morphogenesis, especially interdigital programmed cell death...
  81. pmc A NUP98-HOXD13 fusion gene impairs differentiation of B and T lymphocytes and leads to expansion of thymocytes with partial TCRB gene rearrangement
    Chul Won Choi
    Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20889 5105, USA
    J Immunol 183:6227-35. 2009
    Expression of a NUP98-HOXD13 (NHD13) fusion gene leads to myelodysplastic syndrome in mice...
  82. pmc Pleiotropic patterning response to activation of Shh signaling in the limb apical ectodermal ridge
    Chi Kuang Leo Wang
    Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, Connecticut, USA
    Dev Dyn 240:1289-302. 2011
    ..Our studies emphasize the importance of control of the timing, level and location of Shh pathway signaling for limb anterior-posterior, proximal-distal, and dorsal-ventral patterning...
  83. pmc jun-D: a third member of the jun gene family
    K Ryder
    Howard Hughes Medical Institute Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Proc Natl Acad Sci U S A 86:1500-3. 1989
    ..In resting 3T3 cells, jun-D is expressed at a higher level compared to c-jun and jun-B, and its transcription is stimulated only slightly by serum growth factors. Thus, jun-D appears to be regulated differently than c-jun and jun-B...
  84. ncbi Differential expression of two different homeobox gene families during mouse tegument morphogenesis
    B Kanzler
    Laboratoire de Biologie de la Différenciation Epithéliale, Universite Joseph Fourier, Grenoble, France
    Int J Dev Biol 38:633-40. 1994
    ..The Hoxd9 and Hoxd11 genes are only expressed in the caudal skin from 14.5 days of gestation. The Hoxd13 transcripts are the last to appear, 2 days after birth, and are limited to the last epidermal cells to ..
  85. ncbi The limb deformity mutation disrupts the SHH/FGF-4 feedback loop and regulation of 5' HoxD genes during limb pattern formation
    A G Haramis
    EMBL, Heidelberg, Germany
    Development 121:4237-45. 1995
    ..These studies show that the AER defect in ld homozygous limb buds causes disruption of the FGF-4/SHH feedback loop and support the proposed essential role for FGF-4 in maintaining Shh expression during limb pattern formation...
  86. ncbi Function of posterior HoxD genes in the morphogenesis of the anal sphincter
    T Kondo
    Department of Zoology and Animal Biology, University of Geneva, Switzerland
    Development 122:2651-9. 1996
    ..Similarly, Hoxd-12 and Hoxd-13 functionally overlap during digit development. The function of these genes in the morphogenesis of the digestive system as well as their functional evolution are discussed...
  87. pmc Genetic and physical mapping of the mouse Ulnaless locus
    C L Peichel
    Department of Molecular Biology, Princeton University, New Jersey 08544, USA
    Genetics 144:1757-67. 1996
    ..Therefore, the region that must contain the Ulnaless locus has been defined and cloned, which will be invaluable for the identification of the molecular nature of the Ulnaless mutation...
  88. ncbi The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning
    C L Peichel
    Department of Molecular Biology, Princeton University, New Jersey 08544, USA
    Development 124:3481-92. 1997
    ..We propose that the Ulnaless mutation alters a cis-acting element that regulates HoxD expression specifically in the appendicular axes of the embryo...
  89. ncbi DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages
    T Takagi
    Institute for Molecular and Cellular Biology, Osaka University, Suita, Japan
    Development 125:21-31. 1998
    ..Since the skeletal defects were not observed in deltaEF1deltaC727 mice, deltaEF1 bears distinct regulatory activities which are dependent on different domains of the molecule...
  90. ncbi Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton
    L J Brunet
    Department of Molecular and Cell Biology, Division of Biochemistry and Molecular Biology, University of California, Berkeley, CA 94720 3204, USA
    Science 280:1455-7. 1998
    ..Excess BMP activity in the absence of Noggin antagonism may enhance the recruitment of cells into cartilage, resulting in oversized growth plates; chondrocytes are also refractory to joint-inducing positional cues...
  91. ncbi Prx1 and Prx2 in skeletogenesis: roles in the craniofacial region, inner ear and limbs
    D ten Berge
    Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, The Netherlands
    Development 125:3831-42. 1998
    ..In addition, Prx1 and Prx2 are involved in interactions between perichondrium and chondrocytes that regulate their proliferation or differentiation in the bones of the zeugopods...
  92. ncbi Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse
    M A Crackower
    Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada
    Dev Biol 201:78-89. 1998
    ..Moreover, the data suggest that the role of the AER maintenance factor is to promote cell proliferation in the ridge. Based on our findings, we propose a model for AER maintenance in the vertebrate limb...
  93. ncbi Physical and genetic interactions between Alx4 and Cart1
    S Qu
    Department of Biochemistry, Vanderbilt University, Nashville, TN 37232, USA
    Development 126:359-69. 1999
    ..Interpreted in the context of the biochemical characterization, the genetic analysis suggests that Alx4 and Cart1 are indeed functionally redundant, and reveal both unique and redundant functions for these genes in development...
  94. ncbi Syndactyly of Ft/+ mice correlates with an imbalance in bmp4 and fgf8 expression
    J Heymer
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, 30625, Hannover, Germany
    Mech Dev 88:173-81. 1999
    ..The data suggest a negative effect of Bmp4 on Fgf8 expression and a positive influence on the induction of bone elements...
  95. ncbi Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation
    H Moribe
    Institute for Molecular and Cellular Biology, Osaka University, Suita, Japan
    Dev Growth Differ 42:367-76. 2000
    ..In Gli3XtJ mutants, the Hoxd13 expression domain was expanded more dramatically in homozygotes...
  96. ncbi Cholesterol modification of sonic hedgehog is required for long-range signaling activity and effective modulation of signaling by Ptc1
    P M Lewis
    Department of Molecular and Cellular Biology, The Biolabs, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA
    Cell 105:599-612. 2001
    ..Thus, cholesterol modification is essential for the normal range of signaling. It also appears to be necessary for appropriate modulation of signaling by the Shh receptor, Ptc1...
  97. ncbi The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes
    S Bruneau
    Department of Zoology and Animal Biology, University of Geneva, Sciences III, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland
    Dev Biol 237:345-53. 2001
    Polyalanine expansion in the human HOXD13 gene induces synpolydactyly (SPD), an inherited congenital limb malformation...
  98. ncbi The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements
    Andrea N Albrecht
    Max Planck Institut fur Molekulare Genetik, Berlin, Germany
    Mech Dev 112:53-67. 2002
    ..and brachydactyly and is caused by the expansion of a polyalanine encoding repeat in the 5' region of the Hoxd13 gene...
  99. ncbi Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse
    Anne M Boulet
    Howard Hughes Medical Institute, Department of Human Genetics, University of Utah, School of Medicine, Salt Lake City, Utah 84112 5331, USA
    Dev Biol 249:96-107. 2002
    ..Interestingly, the insertion of an additional Hoxd11 locus into the HoxD complex does not appear to affect the expression patterns of the neighboring Hoxd10, -d12, or -d13 genes...
  100. ncbi Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud
    Ottheinz Krebs
    Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig Maximilian University, Munich, Germany
    Development 130:6037-47. 2003
    ..We propose that the double anterior zeugopod and symmetrical central polydactyly are due to an increased and uniform concentration of the Gli3 repressor form because of lowered Shh signaling...
  101. ncbi Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh
    Sanne Kuijper
    Hubrecht Laboratory, The Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584CT Utrecht, The Netherlands
    Dev Biol 285:533-44. 2005
    ..SHH signaling, but we now show that in early Alx4-/- limb buds the anterior ectopic expression of Fgf4 and Hoxd13, and therefore disruption of AP-patterning, occurs independently of SHH signaling...

Research Grants4

  1. ROLES OF SOX C GENES IN SKELETOGENESIS
    VERONIQUE M LEFEBVRE; Fiscal Year: 2010
    ....
  2. GENETIC ANALYSIS OF EARLY LIMB DEVELOPMENT
    Arend Sidow; Fiscal Year: 2004
    ..Because Dac is likely to be the mouse ortholog of the human Split Hand/Foot Malformation 3 gene, this project may also bear direct relevance to understanding and diagnosis of congenital limb diseases. ..
  3. The ProPhylER Database and Web Resource
    Arend Sidow; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  4. The Ciona savignyi Genetic Map
    Arend Sidow; Fiscal Year: 2008
    ..Insights into the molecular mechanisms of regulation and development using Ciona as a model are highly effective and relevant to the homologous processes in human. ..