Gene Symbol: Pax1
Description: paired box 1
Alias: Pax-1, hbs, hunchback, undulated, paired box protein Pax-1, paired box gene 1, wavy tail
Species: mouse
Products:     Pax1

Top Publications

  1. Goh K, Yang J, Hynes R. Mesodermal defects and cranial neural crest apoptosis in alpha5 integrin-null embryos. Development. 1997;124:4309-19 pubmed
  2. Washington Smoak I, Byrd N, Abu Issa R, Goddeeris M, Anderson R, Morris J, et al. Sonic hedgehog is required for cardiac outflow tract and neural crest cell development. Dev Biol. 2005;283:357-72 pubmed
    ..Our data suggest that SHH signaling does not act directly on NCCs as a survival factor, but rather acts to restrict the domains that NCCs can populate during early stages (e8.5-10.5) of cardiovascular and craniofacial development. ..
  3. Hrabe de Angelis M, McIntyre J, Gossler A. Maintenance of somite borders in mice requires the Delta homologue DII1. Nature. 1997;386:717-21 pubmed
  4. Brent A, Schweitzer R, Tabin C. A somitic compartment of tendon progenitors. Cell. 2003;113:235-48 pubmed
    ..The tendon progenitors are induced at the sclerotome's edge, at the expense of skeletogenic Pax1 positive cells and in response to FGF signaling in the adjacent myotome...
  5. Saga Y, Hata N, Koseki H, Taketo M. Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation. Genes Dev. 1997;11:1827-39 pubmed
  6. Shim M, Foley J, Anna C, Mishina Y, Eling T. Embryonic expression of cyclooxygenase-2 causes malformations in axial skeleton. J Biol Chem. 2010;285:16206-17 pubmed publisher
    ..Our results demonstrate that the aberrant COX-2 signaling during embryonic development is teratogenic and suggest a possible association of COX-2 with fetal malformations of unknown etiology. ..
  7. Bussen M, Petry M, Schuster Gossler K, Leitges M, Gossler A, Kispert A. The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments. Genes Dev. 2004;18:1209-21 pubmed
    ..In summary, Tbx18 appears to act downstream of Mesp2 and Delta/Notch signaling to maintain the separation of anterior and posterior somite compartments. ..
  8. Neubüser A, Koseki H, Balling R. Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1. Dev Biol. 1995;170:701-16 pubmed
    ..We analyzed the expression of Pax9 during embryogenesis of wildtype, Undulated short-tail (Uns), and Danforth's short tail (Sd) mice...
  9. Kusumi K, Sun E, Kerrebrock A, Bronson R, Chi D, Bulotsky M, et al. The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat Genet. 1998;19:274-8 pubmed
    ..Viability analysis also indicates an important role in early development. The results point to a key role for a Notch-signalling pathway in the initiation of patterning of vertebrate paraxial mesoderm. ..

More Information


  1. Wilm B, Dahl E, Peters H, Balling R, Imai K. Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency. Proc Natl Acad Sci U S A. 1998;95:8692-7 pubmed
    ..Previous studies have shown that three natural Pax1 mouse mutants, the undulated alleles, exhibit phenotypes of different severity in these skeletal elements...
  2. Galceran J, Sustmann C, Hsu S, Folberth S, Grosschedl R. LEF1-mediated regulation of Delta-like1 links Wnt and Notch signaling in somitogenesis. Genes Dev. 2004;18:2718-23 pubmed
    ..Finally, the induced expression of LEF1-beta-catenin activates the expression of endogenous Dll1 in fibroblastic cells. Thus, Wnt signaling can affect the Notch pathway by a LEF1-mediated regulation of Dll1. ..
  3. Evrard Y, Lun Y, Aulehla A, Gan L, Johnson R. lunatic fringe is an essential mediator of somite segmentation and patterning. Nature. 1998;394:377-81 pubmed
  4. Barrantes I, Elia A, Wunsch K, Hrabe de Angelis M, Mak T, Rossant J, et al. Interaction between Notch signalling and Lunatic fringe during somite boundary formation in the mouse. Curr Biol. 1999;9:470-80 pubmed
    ..In this region, Notch function activates a set of genes that are involved in boundary formation and anterior-posterior somite identity. ..
  5. Mansouri A, Voss A, Thomas T, Yokota Y, Gruss P. Uncx4.1 is required for the formation of the pedicles and proximal ribs and acts upstream of Pax9. Development. 2000;127:2251-8 pubmed
    ..The loss of proximal ribs in Pax1/Pax9 double mutants and the data presented here argue for a role of Uncx4...
  6. Zhang X, Ramalho Santos M, McMahon A. Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node. Cell. 2001;106:781-92 pubmed
    ..Further, we demonstrate an absolute requirement for Hedgehog signaling in sclerotomal development and a role in cardiac morphogenesis. ..
  7. Galceran J, Farinas I, Depew M, Clevers H, Grosschedl R. Wnt3a-/--like phenotype and limb deficiency in Lef1(-/-)Tcf1(-/-) mice. Genes Dev. 1999;13:709-17 pubmed
    ..Together, these data provide evidence for a redundant role of LEF-1 and TCF-1 in Wnt signaling during mouse development. ..
  8. Wong P, Zheng H, Chen H, Becher M, Sirinathsinghji D, Trumbauer M, et al. Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm. Nature. 1997;387:288-92 pubmed
    ..Hence, PS1 is required for the spatiotemporal expression of Notch1 and Dll1, which are essential for somite segmentation and maintenance of somite borders. ..
  9. Su D, Ellis S, Napier A, Lee K, Manley N. Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis. Dev Biol. 2001;236:316-29 pubmed
    ..this unique process in which two distinct organs form from a single primordium, using mice mutant for Hoxa3 and Pax1. Thymic ectopia in Hoxa3(+/-)Pax1(-/-) compound mutants is due to delayed separation of the thymus/parathyroid ..
  10. Chiang C, Litingtung Y, Lee E, Young K, Corden J, Westphal H, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 1996;383:407-13 pubmed
    ..Defects in all tissues extend beyond the normal sites of Shh transcription, confirming the proposed role of Shh proteins as an extracellular signal required for the tissue-organizing properties of several vertebrate patterning centres. ..
  11. Choi K, Harfe B. Hedgehog signaling is required for formation of the notochord sheath and patterning of nuclei pulposi within the intervertebral discs. Proc Natl Acad Sci U S A. 2011;108:9484-9 pubmed publisher
    ..As notochord cells form nuclei pulposi, we propose that the notochord sheath functions as a "wrapper" around the notochord to constrain these cells along the vertebral column. ..
  12. Storm E, Huynh T, Copeland N, Jenkins N, Kingsley D, Lee S. Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily. Nature. 1994;368:639-43 pubmed
    ..The highly specific skeletal alterations in bp and short ear mice suggest that different members of the BMP family control the formation of different morphological features in the mammalian skeleton. ..
  13. Deutsch U, Dressler G, Gruss P. Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development. Cell. 1988;53:617-25 pubmed
    ..The hybridizing sequences are highly homologous to the conserved Drosophila paired box sequences. A single 3.1 kb Pax 1 (paired box gene) transcript was detected during embryonic development, whereas no transcripts were detected in ..
  14. Blanar M, Crossley P, Peters K, Steingr msson E, Copeland N, Jenkins N, et al. Meso1, a basic-helix-loop-helix protein involved in mammalian presomitic mesoderm development. Proc Natl Acad Sci U S A. 1995;92:5870-4 pubmed
    ..Our findings suggest that Meso1 may be a key regulatory gene involved in the early events of vertebrate mesoderm differentiation...
  15. Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R. The role of Pax-1 in axial skeleton development. Development. 1994;120:1109-21 pubmed
    ..single amino-acid substitution in the transcriptional regulator Pax-1 as the cause of the mouse skeletal mutant undulated (un)...
  16. Burgess R, Rawls A, Brown D, Bradley A, Olson E. Requirement of the paraxis gene for somite formation and musculoskeletal patterning. Nature. 1996;384:570-3 pubmed
    ..These results demonstrate that paraxis regulates somite morphogenesis, and that the function of somites is to pattern the axial skeleton and skeletal muscles. ..
  17. Sonnesen L, Nolting D, Kjaer K, Kjaer I. Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodies. Spine (Phila Pa 1976). 2008;33:1622-6 pubmed publisher
    ..the cranial base, and the craniofacial area were studied by immunohistochemical analyses using Collagen II, Pax9, Pax1, and Noggin antibodies...
  18. Leitges M, Neidhardt L, Haenig B, Herrmann B, Kispert A. The paired homeobox gene Uncx4.1 specifies pedicles, transverse processes and proximal ribs of the vertebral column. Development. 2000;127:2259-67 pubmed
    ..The mesenchymal anlagen for these elements are formed initially, but condensation and chondrogenesis do not occur. Hence, Uncx4.1 is required for the maintenance and differentiation of particular elements of the axial skeleton. ..
  19. Mansouri A, Yokota Y, Wehr R, Copeland N, Jenkins N, Gruss P. Paired-related murine homeobox gene expressed in the developing sclerotome, kidney, and nervous system. Dev Dyn. 1997;210:53-65 pubmed
    ..The temporal and spatial expression pattern suggests that Uncx4.1 may play an important role in kidney development and in the differentiation of the sclerotome and the nervous system. ..
  20. Peters H, Wilm B, Sakai N, Imai K, Maas R, Balling R. Pax1 and Pax9 synergistically regulate vertebral column development. Development. 1999;126:5399-408 pubmed
    The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family...
  21. Wallin J, Eibel H, Neubüser A, Wilting J, Koseki H, Balling R. Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation. Development. 1996;122:23-30 pubmed
    ..Mutations in the Pax-1 gene in undulated mice affect not only the total size of the thymus but also the maturation of thymocytes...
  22. Bommireddy R, Ormsby I, Yin M, Boivin G, Babcock G, Doetschman T. TGF beta 1 inhibits Ca2+-calcineurin-mediated activation in thymocytes. J Immunol. 2003;170:3645-52 pubmed
    ..Consequently, TGFbeta1 prevents autoimmune disease through a Ca(2+) regulatory pathway that maintains the activation threshold above that inducible by self-MHC-TCR interactions. ..
  23. Moore Scott B, Manley N. Differential expression of Sonic hedgehog along the anterior-posterior axis regulates patterning of pharyngeal pouch endoderm and pharyngeal endoderm-derived organs. Dev Biol. 2005;278:323-35 pubmed
    ..Although small, the second, third, and fourth arches and pouches were present. The expression patterns of Fgf8, Pax1, and Bmp4 suggested that pouch identity was abnormal at E10...
  24. Miura S, Davis S, Klingensmith J, Mishina Y. BMP signaling in the epiblast is required for proper recruitment of the prospective paraxial mesoderm and development of the somites. Development. 2006;133:3767-75 pubmed
    ..This suggests that BMP and FGF signaling function antagonistically during paraxial mesoderm development. ..
  25. Hoffmann A, Yang X, Burnicka Turek O, Bosman J, Ren X, Steimle J, et al. Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation. PLoS Genet. 2014;10:e1004604 pubmed publisher
  26. Henderson D, Ybot Gonzalez P, Copp A. Over-expression of the chondroitin sulphate proteoglycan versican is associated with defective neural crest migration in the Pax3 mutant mouse (splotch). Mech Dev. 1997;69:39-51 pubmed
    ..Pax3 may serve to negatively regulate versican expression during normal development, thereby guiding neural crest cells into their pathways of migration. ..
  27. Dietrich S, Schubert F, Gruss P. Altered Pax gene expression in murine notochord mutants: the notochord is required to initiate and maintain ventral identity in the somite. Mech Dev. 1993;44:189-207 pubmed
  28. Grass S, Arnold H, Braun T. Alterations in somite patterning of Myf-5-deficient mice: a possible role for FGF-4 and FGF-6. Development. 1996;122:141-50 pubmed
  29. Greene N, Gerrelli D, van Straaten H, Copp A. Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. Mech Dev. 1998;73:59-72 pubmed
    ..The paraxial mesoderm shows evidence of ventralisation, with increased expression of the sclerotomal marker Pax1, and diminished expression of the dermomyotomal marker Pax3...
  30. Kitazawa T, Takechi M, Hirasawa T, Adachi N, Narboux Nême N, Kume H, et al. Developmental genetic bases behind the independent origin of the tympanic membrane in mammals and diapsids. Nat Commun. 2015;6:6853 pubmed publisher
    ..We propose that differences in connection and release by various pharyngeal skeletal elements resulted in structural diversity, leading to the acquisition of the tympanic membrane in two distinct manners during amniote evolution. ..
  31. Moore B, Gonzalez Aviles G, Larkins C, Hillman M, Caspary T. Mitochondrial retention of Opa1 is required for mouse embryogenesis. Mamm Genome. 2010;21:350-60 pubmed publisher
    ..Our results define, for the first time, a function of the middle domain of the Opa1 protein and demonstrate that mitochondrial retention of Opa1 protein is essential for normal embryogenesis. ..
  32. Mulder G, Manley N, Maggio Price L. Retinoic acid-induced thymic abnormalities in the mouse are associated with altered pharyngeal morphology, thymocyte maturation defects, and altered expression of Hoxa3 and Pax1. Teratology. 1998;58:263-75 pubmed
    ..RNA in situ hybridization for the transcription factors Hoxa3 and Pax1 was used to investigate the basis of this defect...
  33. Stafford D, Monica S, Harland R. Follistatin interacts with Noggin in the development of the axial skeleton. Mech Dev. 2014;131:78-85 pubmed
    ..Consistent with these observations, expression of the early sclerotome markers Pax1 and Uncx is diminished in Noggin;Follistatin compound mutants...
  34. Dahl E, Koseki H, Balling R. Pax genes and organogenesis. Bioessays. 1997;19:755-65 pubmed
    ..PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulated (Pax1), Splotch (Pax3), Small eye (Pax6), Pax2(1)Neu), which all show defects in development...
  35. Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K, et al. Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched. Cell. 2002;111:63-75 pubmed
    ..This activity is disrupted by alteration of residues functionally conserved in Patched and in a related family of bacterial transmembrane transporters, thus suggesting similar mechanisms of action for all of these proteins. ..
  36. Rizzoti K, Lovell Badge R. SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis. Development. 2007;134:3437-48 pubmed
    ..They also give insight into the formation of pharyngeal pouches, of which little is known in vertebrates. Finally, this work introduces two new players in craniofacial development - SOX3 and SOX2. ..
  37. Zou D, Silvius D, Davenport J, Grifone R, Maire P, Xu P. Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1. Dev Biol. 2006;293:499-512 pubmed
    ..Our data clearly show that Eya1 and Six1 expression in the pouches does not require Pax1/Pax9 function, suggesting that they may function independently from Pax1/Pax9...
  38. Johnson D. The interfrontal bone and mutant genes in the mouse. J Anat. 1976;121:507-13 pubmed
    ..All genes reviewed which increase the incidence of the interfrontal bone and affect the neural tube also change the proportions of the adult skull. ..
  39. Takagi T, Moribe H, Kondoh H, Higashi Y. DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages. Development. 1998;125:21-31 pubmed
    ..Since the skeletal defects were not observed in deltaEF1deltaC727 mice, deltaEF1 bears distinct regulatory activities which are dependent on different domains of the molecule. ..
  40. Soriano P. The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development. 1997;124:2691-700 pubmed
    ..These results indicate that PDGFs may exert their functions during early embryogenesis by affecting cell survival and patterning. ..
  41. Siracusa L, Alvord W, Bickmore W, Jenkins N, Copeland N. Interspecific backcross mice show sex-specific differences in allelic inheritance. Genetics. 1991;128:813-21 pubmed
    ..These studies provide evidence for sex-specific differences in allelic inheritance for chromosome 2 and suggest biological explanations for this form of transmission distortion. ..
  42. Graff R, Kurtz M, Paul R, Martin D, Roopenian D. Additional mapping of mouse chromosome 2 genes. Immunogenetics. 1991;33:96-100 pubmed
    ..Hd-1 typing indicated that Hd-1 maps distal to [H-42, H-44] and proximal to un. The gene order [pa, B2m, H-3], we, [H-42, H-45], Hd-1, un, H-13, at, with H-44 mapping centromeric to Hd-1, is indicated by the data. ..
  43. Wallin J, Mizutani Y, Imai K, Miyashita N, Moriwaki K, Taniguchi M, et al. A new Pax gene, Pax-9, maps to mouse chromosome 12. Mamm Genome. 1993;4:354-8 pubmed
    ..This comparison classifies Pax-9 as a member of the same subgroup as Pax-1/undulated. By analysis of the segregation of a Pax-9 restriction fragment length polymorphism and a large number of simple ..
  44. Cserjesi P, Brown D, Ligon K, Lyons G, Copeland N, Gilbert D, et al. Scleraxis: a basic helix-loop-helix protein that prefigures skeletal formation during mouse embryogenesis. Development. 1995;121:1099-110 pubmed
    ..The expression pattern, DNA-binding properties and transcriptional activity of scleraxis suggest that it is a regulator of gene expression within mesenchymal cell lineages that give rise to cartilage and connective tissue. ..
  45. Okubo T, Kawamura A, Takahashi J, Yagi H, Morishima M, Matsuoka R, et al. Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. Development. 2011;138:339-48 pubmed publisher
    ..Together, our results show that Ripply3 plays a role in pharyngeal development, probably by regulating Tbx1 activity. ..
  46. Vinagre T, Moncaut N, Carapuco M, Novoa A, Bom J, Mallo M. Evidence for a myotomal Hox/Myf cascade governing nonautonomous control of rib specification within global vertebral domains. Dev Cell. 2010;18:655-61 pubmed publisher
    ..Our findings offer a new perspective of how Hox genes produce global patterns in the axial skeleton and support a redundant nonmyogenic role of Myf5 and Myf6 in rib formation. ..
  47. Tanaka M, Komuro I, Inagaki H, Jenkins N, Copeland N, Izumo S. Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glands. Dev Dyn. 2000;219:248-60 pubmed
    ..However, we did not observe prostate cancer in homozygous mutant mice up to 2 years of age. Therefore, involvement of NKX3.1 in carcinogenesis in men needs to be carefully determined by further investigation. ..
  48. Warden C, Stone S, Chiu S, Diament A, Corva P, Shattuck D, et al. Identification of a congenic mouse line with obesity and body length phenotypes. Mamm Genome. 2004;15:460-71 pubmed
    ..We used the B10.UW- H3(b) we Pax1(un) a(t)/Sn (B10...
  49. Carlson G, Ebeling C, Torchia M, Westaway D, Prusiner S. Delimiting the location of the scrapie prion incubation time gene on chromosome 2 of the mouse. Genetics. 1993;133:979-88 pubmed
    ..Thus, Prn-pb transgenes and Prn-i may modulate scrapie pathogenesis by different mechanisms. ..
  50. Byrd N, Meyers E. Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo. Dev Biol. 2005;284:233-45 pubmed
    ..Here, we demonstrate that Fgf8 and Gbx2 expression overlaps in regions of the developing pharyngeal arches and that they interact genetically during pharyngeal arch and cardiovascular development. ..
  51. Baffi M, Moran M, Serra R. Tgfbr2 regulates the maintenance of boundaries in the axial skeleton. Dev Biol. 2006;296:363-74 pubmed
    ..Next, we show that the expression domains of Pax1 and Pax9, which are preferentially expressed in the caudal sclerotome, are expanded over the entire rostral to ..
  52. Chalepakis G, Fritsch R, Fickenscher H, Deutsch U, Goulding M, Gruss P. The molecular basis of the undulated/Pax-1 mutation. Cell. 1991;66:873-84 pubmed
    The murine paired box gene Pax-1 has been associated with the mouse developmental mutant undulated (un), which exhibits malformations in the vertebral column...
  53. Kokubu C, Horie K, Abe K, Ikeda R, Mizuno S, Uno Y, et al. A transposon-based chromosomal engineering method to survey a large cis-regulatory landscape in mice. Nat Genet. 2009;41:946-52 pubmed publisher
    ..vector, carrying an enhancer-detecting lacZ reporter and loxP cassette, into the developmentally critical Pax1 gene locus, followed by efficient local transpositions, nested deletion formation and derivation of embryos by ..
  54. Mankoo B, Skuntz S, Harrigan I, Grigorieva E, Candia A, Wright C, et al. The concerted action of Meox homeobox genes is required upstream of genetic pathways essential for the formation, patterning and differentiation of somites. Development. 2003;130:4655-64 pubmed
    ..In particular, our studies place Meox gene function upstream of Pax genes in the regulation of chondrogenic and myogenic differentiation of paraxial mesoderm. ..
  55. Capellini T, Handschuh K, Quintana L, Ferretti E, Di Giacomo G, Fantini S, et al. Control of pelvic girdle development by genes of the Pbx family and Emx2. Dev Dyn. 2011;240:1173-89 pubmed publisher
    ..We establish that expression of Tbx15, Prrx1, and Pax1, among other genes involved in the specification and development of select pelvic structures, is altered in our ..
  56. McMahon J, Takada S, Zimmerman L, Fan C, Harland R, McMahon A. Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite. Genes Dev. 1998;12:1438-52 pubmed
    ..Together these data demonstrate that inhibition of BMP signaling by axially secreted Noggin is an important requirement for normal patterning of the vertebrate neural tube and somite. ..
  57. Valenzuela D, Griffiths J, Rojas J, Aldrich T, Jones P, Zhou H, et al. Angiopoietins 3 and 4: diverging gene counterparts in mice and humans. Proc Natl Acad Sci U S A. 1999;96:1904-9 pubmed
    ..Angiopoietin-3 and angiopoietin-4 have very different distributions in their respective species, and angiopoietin-3 appears to act as an antagonist, whereas angiopoietin-4 appears to function as an agonist. ..
  58. Takahashi Y, Takagi A, Hiraoka S, Koseki H, Kanno J, Rawls A, et al. Transcription factors Mesp2 and Paraxis have critical roles in axial musculoskeletal formation. Dev Dyn. 2007;236:1484-94 pubmed
    ..By focusing on vertebral column formation, we found that expressions of Pax1, Nkx3...
  59. Dupé V, Pellerin I. Retinoic acid receptors exhibit cell-autonomous functions in cranial neural crest cells. Dev Dyn. 2009;238:2701-11 pubmed publisher
    ..Therefore, RARs exert a function in the NCC as well as in a separated cell population. This work demonstrates that RARs use distinct mechanisms to pattern cranial NCC. ..
  60. Kuta A, Mao Y, Martin T, Ferreira de Sousa C, Whiting D, Zakaria S, et al. Fat4-Dchs1 signalling controls cell proliferation in developing vertebrae. Development. 2016;143:2367-75 pubmed publisher
    ..Thus, we have identified a new pathway crucial for the development of the vertebrae and our data indicate that novel mechanisms of Fat4-Dchs1 signalling have evolved to control cell proliferation within the developing vertebrae. ..
  61. O Rourke M, Soo K, Behringer R, Hui C, Tam P. Twist plays an essential role in FGF and SHH signal transduction during mouse limb development. Dev Biol. 2002;248:143-56 pubmed the limb bud mesenchyme, the down-regulation of Bmp4 in the apical ectoderm, the absence of Alx3, Alx4, Pax1, and Pax3 activity in the mesenchyme, and a reduced potency of the limb bud tissues to differentiate into ..
  62. Hill R, Hanson I. Molecular genetics of the Pax gene family. Curr Opin Cell Biol. 1992;4:967-72 pubmed are now known to be responsible for the established mouse developmental phenotypes Splotch, Small eye and undulated; two of these genes are implicated in the human congenital diseases Waardenburg's syndrome and aniridia...
  63. Jenkins N, Mattei M, Gilbert D, Linard C, Mbikay M, Chretien M, et al. Assignment of secretogranin I locus to mouse chromosome 2 by in situ hybridization and interspecific backcross analysis. Genomics. 1991;11:479-80 pubmed
  64. Juriloff D, Harris M. Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2. J Hered. 1991;82:402-5 pubmed
    ..It may therefore be significant that, in mapping near Ulnaless, Far also maps in the vicinity of the Hox-4 gene cluster. ..
  65. Koseki H, Wallin J, Wilting J, Mizutani Y, Kispert A, Ebensperger C, et al. A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae. Development. 1993;119:649-60 pubmed
    ..The Sd gene is known to interact with undulated (un), a sclerotome mutant...
  66. Xu X, Li C, Takahashi K, Slavkin H, Shum L, Deng C. Murine fibroblast growth factor receptor 1alpha isoforms mediate node regression and are essential for posterior mesoderm development. Dev Biol. 1999;208:293-306 pubmed
    ..These data demonstrate that FGF/FGFR1alpha signals are posteriorizing factors that control node regression and posterior embryonic development. ..
  67. Schubert F, Tremblay P, Mansouri A, Faisst A, Kammandel B, Lumsden A, et al. Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites. Dev Dyn. 2001;222:506-21 pubmed
    ..This finding suggests an early function of Pax3 during the formation of epithelial somites. ..
  68. Rodrigo I, Bovolenta P, Mankoo B, Imai K. Meox homeodomain proteins are required for Bapx1 expression in the sclerotome and activate its transcription by direct binding to its promoter. Mol Cell Biol. 2004;24:2757-66 pubmed
    ..Genetic analysis has demonstrated that the transcription factors Pax1, Pax9, Meox1, Meox2, and Bapx1 are all required for sclerotomal differentiation...
  69. Cole F, Zhang W, Geyra A, Kang J, Krauss R. Positive regulation of myogenic bHLH factors and skeletal muscle development by the cell surface receptor CDO. Dev Cell. 2004;7:843-54 pubmed
    ..The promyogenic effect of cell-cell contact is therefore linked to the activity of myogenic bHLH factors. Furthermore, the myogenic positive feedback network extends from the cell surface to the nucleus. ..
  70. McDermott A, Gustafsson M, Elsam T, Hui C, Emerson C, Borycki A. Gli2 and Gli3 have redundant and context-dependent function in skeletal muscle formation. Development. 2005;132:345-57 pubmed
    ..Together, our data demonstrate both positive and negative regulatory functions for Gli2 and Gli3 in the control of Myf5 activation in the epaxial muscle progenitor cells and in dorsoventral and mediolateral patterning of the somite. ..
  71. Kuijper S, Beverdam A, Kroon C, Brouwer A, Candille S, Barsh G, et al. Genetics of shoulder girdle formation: roles of Tbx15 and aristaless-like genes. Development. 2005;132:1601-10 pubmed
    ..Especially in Alx4/Cart1 mutants, the expression of markers such as Pax1, Pax3 and Scleraxis is altered prior to stages when anatomical aberrations are visible in the shoulder region...
  72. Kokubu C, Wilm B, Kokubu T, Wahl M, Rodrigo I, Sakai N, et al. Undulated short-tail deletion mutation in the mouse ablates Pax1 and leads to ectopic activation of neighboring Nkx2-2 in domains that normally express Pax1. Genetics. 2003;165:299-307 pubmed
    Previous studies have indicated that the Undulated short-tail deletion mutation in mouse Pax1 (Pax1(Un-s)) not only ablates Pax1, but also disturbs a gene or genes nearby Pax1...
  73. Niederreither K, Vermot J, Le Roux I, Schuhbaur B, Chambon P, Dolle P. The regional pattern of retinoic acid synthesis by RALDH2 is essential for the development of posterior pharyngeal arches and the enteric nervous system. Development. 2003;130:2525-34 pubmed
    ..Thus, RALDH2 plays a crucial role in producing RA required for pharyngeal development, and RA is one of the diffusible mesodermal signals that pattern the pharyngeal endoderm. ..
  74. Seo K, Wang Y, Kokubo H, Kettlewell J, Zarkower D, Johnson R. Targeted disruption of the DM domain containing transcription factor Dmrt2 reveals an essential role in somite patterning. Dev Biol. 2006;290:200-10 pubmed
  75. Bulgakov O, Eggenschwiler J, Hong D, Anderson K, Li T. FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues. Development. 2004;131:2149-59 pubmed
    ..Although it is expressed broadly, FKBP8 is required to antagonize SHH signaling primarily in neural tissues, suggesting that hedgehog signal transduction is subject to cell-type specific modulation during mammalian development. ..
  76. Revest J, Suniara R, Kerr K, Owen J, Dickson C. Development of the thymus requires signaling through the fibroblast growth factor receptor R2-IIIb. J Immunol. 2001;167:1954-61 pubmed
    ..Nevertheless, sufficient epithelial cell differentiation occurs in the severely hypoplastic thymus to allow the development of CD4/CD8-double-positive thymocytes and a very small number of single-positive thymocytes expressing TCRs. ..
  77. Spörle R, Schughart K. System to identify individual somites and their derivatives in the developing mouse embryo. Dev Dyn. 1997;210:216-26 pubmed
    ..the somites independently from the SG, was based on the observation that after in situ hybridization to Myf5, Pax3, Pax1, and Mox1 riboprobes, a distinct and characteristic morphology of the last occipital somite (SO-O5) and the first ..
  78. Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, et al. Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Biochem Biophys Res Commun. 2007;357:126-32 pubmed
    ..These observations suggest diverse cellular role(s) of GDD1 in the development of musculoskeletal system. ..
  79. Yao R, Natsume Y, Noda T. TACC3 is required for the proper mitosis of sclerotome mesenchymal cells during formation of the axial skeleton. Cancer Sci. 2007;98:555-62 pubmed
    ..Thus, in addition to spindle assembly, Tacc3 has critical roles in chromosome separation and cytokinesis, and is essential for the mitosis of sclerotome mesenchymal cells during axial formation in mammals. ..
  80. Bastian H, Gruss P, Duboule D, Izpisua Belmonte J. The murine even-skipped-like gene Evx-2 is closely linked to the Hox-4 complex, but is transcribed in the opposite direction. Mamm Genome. 1992;3:241-3 pubmed