Hoxa13

Summary

Gene Symbol: Hoxa13
Description: homeobox A13
Alias: Hox-1.10, homeobox protein Hox-A13, homeo box A13, homeobox protein Hox-1.10, hypodactyly
Species: mouse

Top Publications

  1. ncbi The establishment of murine Hox-1 expression domains during patterning of the limb
    H Haack
    Abteilung für Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
    Dev Biol 157:410-22. 1993
  2. pmc (1)H, (15)N, and (13)C chemical shift assignments of mouse HOXA13 DNA binding domain
    Yonghong Zhang
    Department of Chemistry, University of California, Davis, CA 95616, USA
    Biomol NMR Assign 3:199-201. 2009
  3. ncbi Elucidation, quantitative refinement, and in vivo utilization of the HOXA13 DNA binding site
    Wendy M Knosp
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 282:6843-53. 2007
  4. ncbi Hox proteins functionally cooperate with the GC box-binding protein system through distinct domains
    Mitsuko Suzuki
    Division of Biological Science, Graduate School of Science, Nagoya University, Furo cho, Chikusa ku, Nagoya 464 8602, Japan
    J Biol Chem 278:30148-56. 2003
  5. ncbi Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia
    Emily A Morgan
    Shriners Hospital for Children, Portland, OR 97239, USA
    Development 130:3095-109. 2003
  6. ncbi Loss of Eph-receptor expression correlates with loss of cell adhesion and chondrogenic capacity in Hoxa13 mutant limbs
    H S Stadler
    Howard Hughes Medical Institute, University of Utah School of Medicine, Salt Lake City, UT 84112 5331, USA
    Development 128:4177-88. 2001
  7. ncbi Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
    Jeffrey W Innis
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Hum Mol Genet 13:2841-51. 2004
  8. 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
  9. 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
  10. 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

Research Grants

Scientific Experts

  • Alexander R Moise
  • Hugh S Taylor
  • JEFFREY INNIS
  • S A Newman
  • Mitsuyuki Nakata
  • Bradley E Bernstein
  • Haruhiko Akiyama
  • Pengfei Lu
  • Antonella Galli
  • Marie Kmita
  • Rushikesh Sheth
  • H Scott Stadler
  • Martina Scotti
  • Melissa E Williams
  • Thomas M Williams
  • Siming Shou
  • Jessica A Lehoczky
  • Wendy M Knosp
  • Roel Neijts
  • Denis Duboule
  • Jacqueline Deschamps
  • Moises Mallo
  • Wilma D Perez
  • L C Post
  • Cesca van de Ven
  • Brian D Harfe
  • Teddy Young
  • Rolf Zeller
  • ALICE H HUANG
  • Ma Carmen González-Martín
  • Valentina Salsi
  • Marian A Ros
  • Maria Félix Bastida
  • Carina van Rooijen
  • Sara E Billings
  • Javier Lopez-Rios
  • Fanxin Long
  • Jean Denis Bénazet
  • Fernando F Migone
  • Yoshifumi Hamasaki
  • Douglas R Keene
  • Emily A Morgan
  • Chen Wang
  • Laurie A Wyngaarden
  • Fiona Bangs
  • Igor Schneider
  • Marian Ros
  • Natalia Soshnikova
  • Ana Novoa
  • Pablo Villavicencio-Lorini
  • Monika Bialecka
  • Tracie Pennimpede
  • Felix Beck
  • Jean Noel Freund
  • Maria A Ros
  • Yoshihiro Matsumoto
  • M Félix Bastida
  • Yonghong Zhang
  • Yasuhiko Kawakami
  • Olivier Cocquempot
  • Danielle M Maatouk
  • Congxing Lin
  • Masaya Ikegawa
  • Irene Delgado
  • Carley A E Shaut
  • Chie Saneyoshi
  • Carley A Shaut
  • Frits Meijlink
  • Maria Immacolata Ferrante
  • Vincenzo Zappavigna
  • Stefan Mundlos
  • Terence D Capellini
  • D P Mortlock
  • Hans Peter Bachinger
  • John Cobb
  • Jamie M Verheyden
  • D Duboule
  • Kenta Yashiro
  • X Warot
  • Virginia Scott
  • C Fromental-Ramain
  • K E Robertson
  • Qihong Zhang
  • Masakazu Yamamoto
  • Shilu Amin
  • Mitsuko Suzuki
  • Atsushi Kuroiwa
  • Yacine Kherdjemil
  • Jennifer L Weibel
  • Brian Pryce

Detail Information

Publications97

  1. ncbi The establishment of murine Hox-1 expression domains during patterning of the limb
    H Haack
    Abteilung für Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
    Dev Biol 157:410-22. 1993
    ..8 and Hox-1.9 were expressed in muscle precursor cells which migrate into the limb. The importance of these findings for the proposed models of limb pattern formation is discussed...
  2. pmc (1)H, (15)N, and (13)C chemical shift assignments of mouse HOXA13 DNA binding domain
    Yonghong Zhang
    Department of Chemistry, University of California, Davis, CA 95616, USA
    Biomol NMR Assign 3:199-201. 2009
    The homeobox gene (HOXA13) codes for a transcription factor protein that binds to AT-rich DNA sequences and controls expression of many important proteins during embryonic morphogenesis...
  3. ncbi Elucidation, quantitative refinement, and in vivo utilization of the HOXA13 DNA binding site
    Wendy M Knosp
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 282:6843-53. 2007
    Mutations in Hoxa13 cause malformations of the appendicular skeleton and genitourinary tract, including digit loss, syndactyly, and hypospadias...
  4. ncbi Hox proteins functionally cooperate with the GC box-binding protein system through distinct domains
    Mitsuko Suzuki
    Division of Biological Science, Graduate School of Science, Nagoya University, Furo cho, Chikusa ku, Nagoya 464 8602, Japan
    J Biol Chem 278:30148-56. 2003
    ..These observations indicate that HoxA-13 regulates transcription through multiple pathways. In addition, we found that a helix 3 mutation of the HoxA-13 homeodomain behaves as a dominant negative form...
  5. ncbi Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia
    Emily A Morgan
    Shriners Hospital for Children, Portland, OR 97239, USA
    Development 130:3095-109. 2003
    In humans and mice, mutations in Hoxa13 cause malformation of limb and genitourinary (GU) regions...
  6. ncbi Loss of Eph-receptor expression correlates with loss of cell adhesion and chondrogenic capacity in Hoxa13 mutant limbs
    H S Stadler
    Howard Hughes Medical Institute, University of Utah School of Medicine, Salt Lake City, UT 84112 5331, USA
    Development 128:4177-88. 2001
    ..In mice that lack the Hoxa13 gene, the mesenchymal condensations that form the autopod skeletal elements are poorly resolved, resulting in ..
  7. ncbi Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
    Jeffrey W Innis
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Hum Mol Genet 13:2841-51. 2004
    Polyalanine expansions in two of three large imperfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-genital syndrome (HFGS)...
  8. 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...
  9. 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 ..
  10. 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
    ..To identify the downstream genes regulated by posterior HOX proteins, we expressed HOXA13 in mouse embryonic fibroblasts lacking paralog group 13 expression using a bicistronic HOXA13/EGFP retroviral ..
  11. 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
    ..organs was assessed by correlating the Hoxa-13 expression domain with phenotypic abnormalities in heterozygous Hypodactyly mutants...
  12. 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...
  13. ncbi Early developmental arrest of mammalian limbs lacking HoxA/HoxD gene function
    Marie Kmita
    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
    Nature 435:1113-6. 2005
    ..Accordingly, these mutant limbs may be reminiscent of an ancestral trunk extension, related to that proposed for arthropods...
  14. 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
    ....
  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 Of fingers, toes and penises
    T Kondo
    Nature 390:29. 1997
  17. 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...
  18. 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
    ....
  19. ncbi HOXA13 directly regulates EphA6 and EphA7 expression in the genital tubercle vascular endothelia
    Carley A Shaut
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon
    Dev Dyn 236:951-60. 2007
    ..Because Hoxa13 homozygous mutant mice also exhibit hypospadias and GT vessel expansion, we examined whether genes playing a role ..
  20. 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
    ..cloacal endoderm genetically, we revealed that Shh relays its signal partly through the dUE, but regulates Hoxa13 and Hoxd13 expression independently of dUE signaling...
  21. ncbi The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation
    D P Mortlock
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
    Nat Genet 13:284-9. 1996
    b>Hypodactyly (Hd) is a semidominant mutation in mice that maps in a genetic interval overlapping the Hoxa cluster...
  22. 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
    ....
  23. 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...
  24. ncbi HOXA13 regulates the expression of bone morphogenetic proteins 2 and 7 to control distal limb morphogenesis
    Wendy M Knosp
    Shriners Hospital for Children, Research Division, Portland, Oregon 97239, USA
    Development 131:4581-92. 2004
    In humans and mice, loss of HOXA13 function causes defects in the growth and patterning of the digits and interdigital tissues...
  25. 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...
  26. 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
    b>Hypodactyly (Hoxa13Hd) mice have a small deletion within the coding sequence of Hoxa13 and a limb phenotype that is more severe than that of mice with an engineered null allele of Hoxa13...
  27. ncbi Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures
    L C Post
    Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
    Biol Reprod 61:1402-8. 1999
    b>Hypodactyly (Hoxa13(Hd)) mice have a 50-base-pair deletion in Hoxa13, and rare surviving homozygotes of both sexes are infertile...
  28. ncbi Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein
    L C Post
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 48109, USA
    Dev Biol 217:290-300. 2000
    b>Hypodactyly (Hoxa13(Hd)) mice have a 50-bp deletion in the coding region of exon 1 of the Hoxa13 gene and have more severe limb defects than mice with an engineered deletion of the entire gene (Hoxa13(-/-))...
  29. pmc Musculoskeletal integration at the wrist underlies the modular development of limb tendons
    ALICE H HUANG
    Research Division, Shriners Hospital for Children, Portland, OR 97209, USA
    Development 142:2431-41. 2015
    ..Subsequent individuation of these tendons depends on muscle activity. These results establish an integrated model for limb tendon development that provides a framework for future analyses of tendon and musculoskeletal phenotypes. ..
  30. pmc A Hoxa13:Cre mouse strain for conditional gene manipulation in developing limb, hindgut, and urogenital system
    Martina Scotti
    Laboratory of Genetics and Development, Institut de recherches cliniques de Montreal IRCM, Universite de Montreal, Montreal Quebec, Canada
    Genesis 53:366-76. 2015
    ..Here we report on the generation of the Hoxa13:Cre line, in which the Cre gene is inserted in the endogenous Hoxa13 gene...
  31. 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. ..
  32. pmc The retinaldehyde reductase DHRS3 is essential for preventing the formation of excess retinoic acid during embryonic development
    Sara E Billings
    1Department of Pharmacology and Toxicology, School of Pharmacy, 5060 Malott Hall, 1251 Wescoe Hall Dr, University of Kansas, Lawrence, KS 66045, USA
    FASEB J 27:4877-89. 2013
    ..These data demonstrate that the reduction of retinaldehyde by DHRS3 is critical for preventing formation of excess ATRA during embryonic development...
  33. pmc "Self-regulation," a new facet of Hox genes' function
    Rushikesh Sheth
    Instituto de Biomedicina y Biotecnologéa de Cantabria, CSIC SODERCAN Universidad de Cantabria, Santander, Spain Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada
    Dev Dyn 243:182-91. 2014
    ..The spatial colinearity is considered to rely both on local and long-range cis regulation...
  34. doi Decoupling the function of Hox and Shh in developing limb reveals multiple inputs of Hox genes on limb growth
    Rushikesh Sheth
    Laboratory of Genetics and Development, Institut de recherches cliniques de Montreal IRCM, Quebec, Canada
    Development 140:2130-8. 2013
    ....
  35. ncbi Genomic maps and comparative analysis of histone modifications in human and mouse
    Bradley E Bernstein
    Howard Hughes Medical Institute, Department of Chemistry and Chemical Biology, Harvard University, 12 Oxford Street, Cambridge, MA 02138, USA
    Cell 120:169-81. 2005
    ..This suggests that the DNA elements that direct the methylation represent only a small fraction of the region or lie at some distance from the site...
  36. doi 3-Hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor simvastatin ameliorates renal fibrosis through HOXA13-USAG-1 pathway
    Yoshifumi Hamasaki
    Department of Nephrology and Endocrinology, and Hemodialysis and Apheresis, University Hospital, University of Tokyo, Tokyo, Japan
    Lab Invest 92:1161-70. 2012
    ..Gene knockdown experiments using MDCK suggested that homeobox protein Hox-A13 (HOXA13) played a suppressive role in the USAG-1 gene and thus SIM reduced USAG-1 by increasing HOXA13 expression...
  37. pmc Recruitment of 5' Hoxa genes in the allantois is essential for proper extra-embryonic function in placental mammals
    Martina Scotti
    Laboratory of Genetics and Development, Institut de Recherches Cliniques de Montreal, Universite de Montreal, 110 avenue des Pins Ouest, Montreal, Quebec, Canada
    Development 139:731-9. 2012
    ..In mammals, one of these genes, Hoxa13, is crucial for embryonic survival, as its function is required for the proper expansion of the fetal vasculature ..
  38. doi Induction of Wnt5a-expressing mesenchymal cells adjacent to the cloacal plate is an essential process for its proximodistal elongation and subsequent anorectal development
    Mitsuyuki Nakata
    Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba 260 8677, Japan
    Pediatr Res 66:149-54. 2009
    ..5 dpc. Based on these results, we suggest that Wnt5a, which is downstream of Shh signaling, and Axin2 affect the development of the proximal part of the cloacal plate...
  39. doi Cdx is crucial for the timing mechanism driving colinear Hox activation and defines a trunk segment in the Hox cluster topology
    Roel Neijts
    Hubrecht Institute, Developmental Biology and Stem Cell Research, Uppsalalaan 8, 3584 CT Utrecht, and UMC Utrecht
    Dev Biol . 2016
    ..Subsequently to initial Wnt-induced activation of 3' Hox genes, Cdx transcription factors would act as crucial effectors for activating central Hox genes, until the last gene of the cluster arrests the process...
  40. ncbi Motheaten, an immunodeficient mutant of the mouse. I. Genetics and pathology
    M C Green
    J Hered 66:250-8. 1975
    ..Hematopoietic tissue in the spleen is increased and appears more active than normal. Motheaten mice appear to have an immune deficiency beginning very shortly after birth...
  41. ncbi High-resolution genetic mapping of the hypodactyly (Hd) locus on mouse chromosome 6
    J W Innis
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Mamm Genome 7:2-5. 1996
  42. pmc The expression pattern of the murine Hoxa-10 gene and the sequence recognition of its homeodomain reveal specific properties of Abdominal B-like genes
    G V Benson
    Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts
    Mol Cell Biol 15:1591-601. 1995
    ..Thus, in vertebrates, structural similarities, coordinate transcriptional regulation, sites of expression, and binding site preferences all serve to distinguish AbdB from Antp Hox genes...
  43. doi Concerted involvement of Cdx/Hox genes and Wnt signaling in morphogenesis of the caudal neural tube and cloacal derivatives from the posterior growth zone
    Cesca van de Ven
    Hubrecht Institute, Developmental Biology and Stem Cell Research, Utrecht, The Netherlands
    Development 138:3451-62. 2011
    ..They shed a new light on the etiology of the caudal dysplasia or caudal regression range of human congenital defects...
  44. doi HOXA13 regulates Aldh1a2 expression in the autopod to facilitate interdigital programmed cell death
    Siming Shou
    University of Chicago Microarray Core, Room G405, Hospital Building MC5100, Chicago, Illinois, USA
    Dev Dyn 242:687-98. 2013
    ..Because mice lacking HOXA13 exhibit similar defects in digit separation as Aldh1a2 mutants, we hypothesized that HOXA13 regulates Aldh1a2 to ..
  45. pmc Hox genes regulate digit patterning by controlling the wavelength of a Turing-type mechanism
    Rushikesh Sheth
    Facultad de Medicina, Instituto de Biomedicina y Biotecnología de Cantabria, Consejo Superior de Investigaciones Científicas Sociedad para el Desarrollo Regional de Cantabria Universidad de Cantabria, 39011 Santander, Spain
    Science 338:1476-80. 2012
    ..We showed that the progressive reduction in Hoxa13 and Hoxd11-Hoxd13 genes (hereafter referred to as distal Hox genes) from the Gli3-null background results in ..
  46. doi Smad4 is required to induce digit ray primordia and to initiate the aggregation and differentiation of chondrogenic progenitors in mouse limb buds
    Jean Denis Bénazet
    Developmental Genetics, Department of Biomedicine, University of Basel, Mattenstrasse 28, Basel, Switzerland
    Development 139:4250-60. 2012
    ..In summary, our analysis reveals that SMAD4 is required to initiate: (1) formation of the Sox9-positive digit ray primordia; and (2) aggregation and chondrogenic differentiation of all limb skeletal elements...
  47. pmc GLI3 constrains digit number by controlling both progenitor proliferation and BMP-dependent exit to chondrogenesis
    Javier Lopez-Rios
    Developmental Genetics, Department of Biomedicine, University of Basel, 4058 Basel, Switzerland
    Dev Cell 22:837-48. 2012
    ..Thus, Gli3 is a negative regulator of the proliferative expansion of digit progenitors and acts as a gatekeeper for the exit to chondrogenic differentiation...
  48. pmc Six1 and Eya1 are critical regulators of peri-cloacal mesenchymal progenitors during genitourinary tract development
    Chen Wang
    Department of Urology, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, MA 02115, USA
    Dev Biol 360:186-94. 2011
    ..Thus, Six1 and Eya1 are key regulators of both upper and lower urinary tract morphogenesis. Results from this study uncover essential roles of the PCM progenitors during genitourinary tract formation...
  49. doi Dominant activation of the hedgehog signaling pathway alters development of the female reproductive tract
    Fernando F Migone
    Department of Animal Science, College of Agriculture and Life Sciences, Cornell University, Ithaca, New York
    Genesis 50:28-40. 2012
    ..b>Hoxa13, which is normally expressed primarily in the vagina and cervix, was expressed at 12-fold higher levels in the ..
  50. pmc Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects
    Yoshihiro Matsumoto
    Sanford Children s Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, California 92037, USA
    J Biol Chem 285:19227-34. 2010
    ..Together, our results show that HS is essential for patterning of limb skeletal elements and that BMP signaling is one of the major targets for the regulatory role of HS in this developmental context...
  51. pmc Appendage expression driven by the Hoxd Global Control Region is an ancient gnathostome feature
    Igor Schneider
    Department of Organismal Biology and Anatomy, University of Chicago, Chicago, IL 60637, USA
    Proc Natl Acad Sci U S A 108:12782-6. 2011
    ..Our results support the notion that some of the novelties associated with tetrapod limbs arose by modification of deeply conserved cis- and trans-acting mechanisms of Hox regulation in gnathostomes...
  52. doi Analysis of Cyp26b1/Rarg compound-null mice reveals two genetically separable effects of retinoic acid on limb outgrowth
    Tracie Pennimpede
    Department of Pathology, Queen s University, Kingston, Ontario, Canada K7L 3N6
    Dev Biol 339:179-86. 2010
    ..These data provide genetic evidence to clarify the roles of both RA and CYP26B1 in limb outgrowth and proximo-distal patterning...
  53. pmc Survival of Hoxa13 homozygous mutants reveals a novel role in digit patterning and appendicular skeletal development
    Wilma D Perez
    Shriners Hospital for Children Research Department, Portland, Oregon, USA
    Dev Dyn 239:446-57. 2010
    The loss of HOXA13 function severely disrupts embryonic limb development...
  54. ncbi Cellular analysis of limb development in the mouse mutant hypodactyly
    K E Robertson
    Department of Anatomy and Developmental Biology, University College London, United Kingdom
    Dev Genet 19:9-25. 1996
    The limb defect in the mouse Hypodactyly (Hd) affects only the distal structures...
  55. ncbi Orientation of the Hoxa complex and placement of the Hd locus distal to Hoxa2 on mouse chromosome 6
    J W Innis
    Department of Human Genetics, Med Sci II, Ann Arbor, Michigan 48109 0618, USA
    Mamm Genome 7:216-7. 1996
  56. doi Cdx and Hox genes differentially regulate posterior axial growth in mammalian embryos
    Teddy Young
    Hubrecht Institute KNAW and University Medical Center, 3584 CT Utrecht, The Netherlands
    Dev Cell 17:516-26. 2009
    ..Concomitant regulation of Cyp26a1 expression, restraining retinoic acid signaling away from the posterior growth zone, may likewise play a role in timing the trunk-tail transition...
  57. ncbi Loss of the Tg737 protein results in skeletal patterning defects
    Qihong Zhang
    The University of Alabama at Birmingham, Department of Cell Biology, Birmingham, Alabama 35294, USA
    Dev Dyn 227:78-90. 2003
    ..Collectively, the data argue for a dosage effect of Tg737 on the limb phenotypes and that the polydactyly is independent of Shh misexpression...
  58. 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...
  59. pmc Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation
    Pablo Villavicencio-Lorini
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    J Clin Invest 120:1994-2004. 2010
    ..Hoxd11-/-Hoxd12-/-Hoxd13-/- triple-knockout mice and Hoxd13-/-Hoxa13+/- mice exhibited similar but less severe defects, suggesting that these Hox genes have similar and complementary ..
  60. doi Functional analysis of CTCF during mammalian limb development
    Natalia Soshnikova
    Department of Zoology and Animal Biology, University of Geneva, Switzerland
    Dev Cell 19:819-30. 2010
    ..We conclude that, at least in this physiological context, rather than being an insulator, CTCF is required for cell survival via the direct transcriptional regulation of target genes critical for cellular homeostasis...
  61. pmc Generation of mice with functional inactivation of talpid3, a gene first identified in chicken
    Fiona Bangs
    Biology and Biochemistry Department, University of Bath, Claverton Down, Bath BA2 7AY, UK
    Development 138:3261-72. 2011
    ..This genetic mouse model will facilitate further conditional approaches, epistatic experiments and open up investigation into the function of the novel talpid3 gene using the many resources available for mice...
  62. ncbi Sticky fingers: Hox genes and cell adhesion in vertebrate limb development
    S A Newman
    Department of Cell Biology and Anatomy, New York Medical College, Valhalla 10595, USA
    Bioessays 18:171-4. 1996
    ..They misexpressed the product of the Hoxa-13 gene in chick limb buds and demonstrated both skeletal pattern perturbations and changes in cell-cell adhesivity in mesenchyme aberrantly expressing this protein...
  63. doi Ezh2 regulates anteroposterior axis specification and proximodistal axis elongation in the developing limb
    Laurie A Wyngaarden
    Developmental and Stem Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
    Development 138:3759-67. 2011
    ..Ezh2 maintains the late phase of Hox gene expression and cell transposition experiments suggest that it regulates the plasticity with which cells respond to instructive positional cues...
  64. ncbi Hypodactyly, a semidominant lethal mutation in mice
    K P Hummel
    J Hered 61:219-20. 1970
  65. pmc A mouse homeo box gene, Hox-1.5, and the morphological locus, Hd, map to within 1 cM on chromosome 6
    B A Mock
    Genetics 116:607-12. 1987
    ..5 are reported. The position of Hox-1.5 was mapped in backcross experiments to within 1 cM of the hypodactyly locus on chromosome 6...
  66. ncbi Inherited ateliotic dwarfism in mice. Characteristics of the mutation, little, on chromosome 6
    E M Eicher
    J Hered 67:87-91. 1976
    ..Because the little mouse shares a number of similarities with the human ateliotic dwarfism, isolated growth hormones deficiency type I, it may be a useful animal model for this inherited human growth disorder...
  67. pmc Ef2: a new LY-3-linked light-chain marker expressed in normal mouse serum immunoglobulin
    D M Gibson
    J Exp Med 149:1477-86. 1979
    ..The relative importance of the bands controlled by the Igk-Ef2 locus suggests that the entire normal light-chain pool could be controlled by as few as 100 such loci...
  68. 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
    ..To identify candidate protein interactors of HOXA13, we created and screened an E11.5-E12.5, distal limb bud yeast two-hybrid prey library...
  69. 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
    ..Abnormal chondrocyte differentiation and proliferation persisted after birth and correlated with the expression of the mutant Hoxd13 and other Hox-genes during late-embryonic and postnatal growth...
  70. 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...
  71. 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
    ..The mutation, however, seems to act independently from Hoxa13 and doesn't appear to affect Hox gene expression, except for a slight reduction of the HOXD13 protein itself...
  72. 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...
  73. ncbi Evolution of N-terminal sequences of the vertebrate HOXA13 protein
    D P Mortlock
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48104 0618, USA
    Mamm Genome 11:151-8. 2000
    ..To investigate the evolution of the HOXA13 protein and to identify conserved residues in the N-terminal region of the protein with potential functional ..
  74. 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...
  75. 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...
  76. 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...
  77. ncbi Conditional inactivation of Fgfr1 in mouse defines its role in limb bud establishment, outgrowth and digit patterning
    Jamie M Verheyden
    Laboratory of Genetics, University of Wisconsin Madison, Madison, WI 53706, USA
    Development 132:4235-45. 2005
    ..Our study of these two Fgfr1 conditional mutants has elucidated the multiple roles of FGFR1 in limb bud establishment, growth and patterning...
  78. 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
    ....
  79. 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...
  80. pmc HOXA13 Is essential for placental vascular patterning and labyrinth endothelial specification
    Carley A E Shaut
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, United States of America
    PLoS Genet 4:e1000073. 2008
    ..In this report, we demonstrate that HOXA13 plays an essential role in labyrinth vessel formation...
  81. doi Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice
    Masaya Ikegawa
    Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan
    Dev Dyn 237:2506-17. 2008
    ..Although joint formation was not disrupted, chondrocyte maturation was preaxially disturbed. Our results suggest that the Sfrp2 deleted mice can be a useful animal model to study human syndactyly/preaxial synpolydactyly defects...
  82. 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
    ..We established Hoxa13 expression as an early marker of distal limb progenitors and discovered a dynamic morphogenetic process of distal ..
  83. ncbi Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice
    Haruhiko Akiyama
    Department of Orthopaedics, Kyoto University, Kyoto 606 8507, Japan
    Matrix Biol 26:224-33. 2007
    ..Rather, there was no expression of Sox9 in digit I of Hoxa13Hd mutant embryos, and Sox9 partially rescued hypodactyly in Hoxa13Hd mutant embryos...
  84. ncbi A conserved Hox axis in the mouse and human female reproductive system: late establishment and persistent adult expression of the Hoxa cluster genes
    H S Taylor
    Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    Biol Reprod 57:1338-45. 1997
    ..The late establishment of a Hox axis and persistent expression of Hox genes in the adult may play an important role in preserving this plasticity...
  85. ncbi A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limb
    Melissa E Williams
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Dev Biol 297:493-507. 2006
    ....
  86. 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...
  87. doi The incomplete inactivation of Fgf8 in the limb ectoderm affects the morphogenesis of the anterior autopod through BMP-mediated cell death
    Irene Delgado
    Departamento de Anatomia y Biologia Celular, Universidad de Cantabria, C Herrera Oria s n, E 39011 Santander, Spain
    Dev Dyn 237:649-58. 2008
    ..These limbs also exhibit an abnormal area of cell death at the anterior forelimb autopod, overlapping with an ectopic domain of Bmp7 expression, which can explain the abnormal morphogenesis of the anterior autopod...
  88. ncbi Developmental expression of the mouse Evx-2 gene: relationship with the evolution of the HOM/Hox complex
    P Dolle
    Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Unité 184 INSERM, Faculte de Medecine, Strasbourg, France
    Dev Suppl . 1994
    ..A scheme is proposed to account for the functional evolution of eve-related genes in the context of their linkage to the HOM/Hox complexes...
  89. ncbi Shh, Fgf4 and Hoxd gene expression in the mouse limb mutant hypodactyly
    K E Robertson
    Department of Anatomy and Developmental Biology, University College London, UK
    Int J Dev Biol 41:733-6. 1997
    The semidominant mouse mutation hypodactyly (Hd), caused by a deletion within the Hoxa13 gene, results in reduced digits; heterozygotes lack digit I in the hindlimb and homozygotes have only one digit on each limb...
  90. ncbi Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication
    Jessica A Lehoczky
    Department of Human Genetics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Evol Dev 6:423-30. 2004
    ..Our work demonstrates a similar mode of regulation for Hoxa13 and four upstream genes: Evx1, Hibadh, Tax1bp, and Jaz1. These genes all show embryonic (E11.5-E13...
  91. pmc BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    Evol Dev 10:421-32. 2008
    We previously demonstrated that a approximately 1 Mb domain of genes upstream of and including Hoxa13 is co-expressed in the developing mouse limbs and genitalia...
  92. ncbi Functional specificity of the Hoxa13 homeobox
    Y Zhao
    Division of Developmental Biology, Children s Hospital Medical Center, Cincinnati, OH 45224, USA
    Development 128:3197-207. 2001
    ..models that predict functional equivalence of all Hox genes and to initiate a search for the downstream targets of Hoxa13, we have performed a homeobox swap by replacing the homeobox of the Hoxa11 gene with that of the Hoxa13 gene...
  93. pmc Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly
    Olivier Cocquempot
    Universite d Orleans, UMR6218, Molecular Immunology and Embryology, 45071 Orleans, France
    Genetics 183:23-30. 2009
    ....
  94. ncbi Hoxa-11 and Hoxa-13 are involved in repression of MyoD during limb muscle development
    Masakazu Yamamoto
    Division of Biological Science, Graduate School of Science, Nagoya University, Furo cho, Chikusa ku, Nagoya 464 8602 Japan
    Dev Growth Differ 45:485-98. 2003
    ..These results suggest that Hoxa-11 and Hoxa-13 are involved in the negative regulation of MyoD expression in limb muscle precursors...
  95. pmc Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities
    Yasuhiko Kawakami
    Gene Expression Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
    Development 136:585-94. 2009
    ..Additionally, our data suggest an antagonism between Sall1-Sall3 and Hoxa13-Hoxd13...
  96. ncbi Location on chromosome 6 of the locus for a major liver protein (Lvp-1) of the house mouse
    F H Wilcox
    Genet Res 40:213-5. 1982
  97. ncbi Localization of CT beta and C kappa on mouse chromosome 6
    L A D'Hoostelaere
    Immunogenetics 22:277-83. 1985
    ..kappa (C kappa) chain were used to determine recombination frequencies with respect to the morphological marker hypodactyly (Hd). SJL/JL W pi mice were mated with C.B6...

Research Grants3

  1. HOX GENE EXPRESSION IN HUMAN ENDOMETRIUM
    Hugh Taylor; Fiscal Year: 2007
    ..These studies will further characterize the molecular mechanisms by which HOX expression is related to normal and pathologic endometrial development. ..
  2. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2004
    Hox genes encode transcription factors that regulate patterning of the body plan of animals. The murine Hoxa13 gene is critical for digital and reproductive tract morphogenesis...
  3. Genetic Mechanisms of Vertebrate Caudal Limb Field Specification
    JEFFREY INNIS; Fiscal Year: 2007
    ..Public Health: This work will have broad significance to our understanding of embryonic development as well as the basis for very common human birth defects involving caudal structures and limbs. [unreadable] [unreadable] [unreadable]..