Development and evolution of the pharyngeal apparatus

Wiley Interdisciplinary Reviews: Developmental Biology

Volumn 3, Issue 6, 2014, Pages 403-418

  Frisdal, Aude ^a,b   Trainor, Paul A ^a,c  

^a STOWERS INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOX PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR DLX; TRANSCRIPTION FACTOR DLX1; TRANSCRIPTION FACTOR DLX2; TRANSCRIPTION FACTOR DLX3; TRANSCRIPTION FACTOR DLX4; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; TRANSCRIPTION FACTOR HOX2; TRANSCRIPTION FACTOR HOX3; TRANSCRIPTION FACTOR HOX4; TRANSCRIPTION FACTOR HOXA2; TRANSCRIPTION FACTOR HOXA3; UNCLASSIFIED DRUG;

ANGIOGENESIS; ANXIETY; BIRTH DEFECT; BRAIN BLOOD VESSEL; BRANCHIAL ARCH; EMBRYO DEVELOPMENT; EMBRYO SEGMENTATION; ENCHONDRAL OSSIFICATION; ENDODERM; EVOLUTIONARY DEVELOPMENTAL BIOLOGY; FEEDING; FOREBRAIN; FRONTONASAL PROMINENCE; HOX GENE; HUMAN; INNERVATION; INVERTEBRATE CHORDATA; LARYNX CARTILAGE; MESODERM; MUSCLE CELL; MUSCULOSKELETAL SYSTEM; NEURAL CREST CELL; NEUROECTODERM; ORGANOGENESIS; PHARYNGEAL APPARATUS; PHARYNX; PRIORITY JOURNAL; RESPIRATORY FUNCTION; REVIEW; SENSE ORGAN; SENSORY NERVE; TISSUE DIFFERENTIATION; VASCULARIZATION; VERTEBRATE; ANIMAL; ANIMAL EMBRYO; EMBRYOLOGY; EVOLUTION; PHYSIOLOGY;

ANIMALS; BIOLOGICAL EVOLUTION; BRANCHIAL REGION; EMBRYO, MAMMALIAN; EMBRYONIC DEVELOPMENT; HUMANS; PHARYNX;

EID: 84911462913     PISSN: 17597684     EISSN: 17597692     Source Type: Journal    
DOI: 10.1002/wdev.147     Document Type: Review

References (69)

1. Jones NC, Trainor PA. The therapeutic potential of stem cells in the treatment of craniofacial abnormalities. Expert Opin Biol Ther 2004, 4:645-657.
2. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet 2000, 9:2421-2426.
3. Walker MB, Trainor PA. Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes. Clin Genet 2006, 69:471-479.
4. Sperber GH. Craniofacial Development. Toronto: B.C. Decker Inc; 2001.
5. Le Douarin NM. The Neural Crest. Cambridge: University Press; 1999.
6. Jiang X, Iseki S, Maxson RE, Sucov HM, Morriss-Kay GM. Tissue origins and interactions in the mammalian skull vault. Dev Biol 2002, 241:106-116.
7. Yamauchi Y, Abe K, Mantani A, Hitoshi Y, Suzuki M, Osuzu F, Kuratani S, Yamamura K. A novel transgenic technique that allows specific marking of the neural crest cell lineage in mice. Dev Biol 1999, 212:191-203.
8. Jiang X, Rowitch DH, Soriano P, McMahon AP, Sucov HM. Fate of the mammalian cardiac neural crest. Development 2000, 127:1607-1616.
9. Chai Y, Jiang X, Ito Y, Bringas P Jr, Han J, Rowitch DH, Soriano P, McMahon AP, Sucov HM. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 2000, 127:1671-1679.
10. Noden DM. The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues. Dev Biol 1983, 96:144-165.
11. Schilling TF, Kimmel CB. Segment and cell type lineage restrictions during pharyngeal arch development in the zebrafish embryo. Development 1994, 120:483-494.
12. Lee SH, Bedard O, Buchtova M, Fu K, Richman JM. A new origin for the maxillary jaw. Dev Biol 2004, 276:207-224.
13. Helms JA, Schneider RA. Cranial skeletal biology. Nature 2003, 423:326-331.
14. Hiruma T, Hirakow R. Formation of the pharyngeal arch arteries in the chick embryo. Observations of corrosion casts by scanning electron microscopy. Anat Embryol (Berl) 1995, 191:415-423.
15. Le Lievre CS, Le Douarin NM. Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos. J Embryol Exp Morphol 1975, 34:125-154.
16. Ali MM, Farooqui FA, Sohal GS. Ventrally emigrating neural tube cells contribute to the normal development of heart and great vessels. Vascul Pharmacol 2003, 40:133-140.
17. Mikawa T, Gourdie RG. Pericardial mesoderm generates a population of coronary smooth muscle cells migrating into the heart along with ingrowth of the epicardial organ. Dev Biol 1996, 174:221-232.
18. Hiruma T, Nakajima Y, Nakamura H. Development of pharyngeal arch arteries in early mouse embryo. J Anat 2002, 201:15-29.
19. Holland LZ, Kene M, Williams NA, Holland ND. Sequence and embryonic expression of the amphioxus engrailed gene (AmphiEn): the metameric pattern of transcription resembles that of its segment-polarity homolog in Drosophila. Development 1997, 124:1723-1732.
20. Rychel AL, Smith SE, Shimamoto HT, Swalla BJ. Evolution and development of the chordates: collagen and pharyngeal cartilage. Mol Biol Evol 2006, 23:541-549.
21. Yao T, Ohtani K, Kuratani S, Wada H. Development of lamprey mucocartilage and its dorsal-ventral patterning by endothelin signaling, with insight into vertebrate jaw evolution. J Exp Zool B Mol Dev Evol 2011, 316:339-346.
22. Depew MJ, Compagnucci C. Tweaking the hinge and caps: testing a model of the organization of jaws. J Exp Zool B Mol Dev Evol 2008, 310:315-335.
23. Sienknecht UJ. Developmental origin and fate of middle ear structures. Hear Res 2013, 301:19-26.
24. Gillis JA, Modrell MS, Baker CV. Developmental evidence for serial homology of the vertebrate jaw and gill arch skeleton. Nat Commun 2013, 4:1436.
25. Veitch E, Begbie J, Schilling TF, Smith MM, Graham A. Pharyngeal arch patterning in the absence of neural crest. Curr Biol 1999, 9:1481-1484.
26. Gavalas A, Trainor P, Ariza-McNaughton L, Krumlauf R. Synergy between Hoxa1 and Hoxb1: the relationship between arch patterning and the generation of cranial neural crest. Development 2001, 128:3017-3027.
27. Piotrowski T, Ahn DG, Schilling TF, Nair S, Ruvinsky I, Geisler R, Rauch GJ, Haffter P, Zon LI, Zhou Y, et al. The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans. Development 2003, 130:5043-5052.
28. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001, 27:286-291.
29. Couly G, Creuzet S, Bennaceur S, Vincent C, Le Douarin NM. Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head. Development 2002, 129:1061-1073.
30. Vermot J, Niederreither K, Garnier JM, Chambon P, Dolle P. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci USA 2003, 100:1763-1768.
31. Sandell LL, Sanderson BW, Moiseyev G, Johnson T, Mushegian A, Young K, Rey JP, Ma JX, Staehling-Hampton K, Trainor PA. RDH10 is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. Genes Dev 2007, 21:1113-1124.
32. Roberts C, Ivins SM, James CT, Scambler PJ. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn 2005, 232:928-938.
33. Kopinke D, Sasine J, Swift J, Stephens WZ, Piotrowski T. Retinoic acid is required for endodermal pouch morphogenesis and not for pharyngeal endoderm specification. Dev Dyn 2006, 235:2695-2709.
34. Crump JG, Maves L, Lawson ND, Weinstein BM, Kimmel CB. An essential role for Fgfs in endodermal pouch formation influences later craniofacial skeletal patterning. Development 2004, 131:5703-5716.
35. Trokovic N, Trokovic R, Mai P, Partanen J. Fgfr1 regulates patterning of the pharyngeal region. Genes Dev 2003, 17:141-153.
36. Jandzik D, Hawkins MB, Cattell MV, Cerny R, Square TA, Medeiros DM. Roles for FGF in lamprey pharyngeal pouch formation and skeletogenesis highlight ancestral functions in the vertebrate head. Development 2014, 141:629-638.
37. Choe CP, Collazo A, Trinh le A, Pan L, Moens CB, Crump JG. Wnt-dependent epithelial transitions drive pharyngeal pouch formation. Dev Cell 2013, 24:296-309.
38. Sumiyama K, Irvine SQ, Ruddle FH. The role of gene duplication in the evolution and function of the vertebrate Dlx/distal-less bigene clusters. J Struct Funct Genomics 2003, 3:151-159.
39. Qiu M, Bulfone A, Martinez S, Meneses JJ, Shimamura K, Pedersen RA, Rubenstein JL. Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain. Genes Dev 1995, 9:2523-2538.
40. Qiu M, Bulfone A, Ghattas I, Meneses JJ, Christensen L, Sharpe PT, Presley R, Pedersen RA, Rubenstein JL. Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. Dev Biol 1997, 185:165-184.
41. Depew MJ, Liu JK, Long JE, Presley R, Meneses JJ, Pedersen RA, Rubenstein JL. Dlx5 regulates regional development of the branchial arches and sensory capsules. Development 1999, 126:3831-3846.
42. Beverdam A, Merlo GR, Paleari L, Mantero S, Genova F, Barbieri O, Janvier P, Levi G. Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past? Genesis 2002, 34:221-227.
43. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, Oda H, Kuwaki T, Cao WH, Kamada N, et al. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 1994, 368:703-710.
44. Sato T, Kurihara Y, Asai R, Kawamura Y, Tonami K, Uchijima Y, Heude E, Ekker M, Levi G, Kurihara H. An endothelin-1 switch specifies maxillomandibular identity. Proc Natl Acad Sci USA 2008, 105:18806-18811.
45. Yanagisawa H, Clouthier DE, Richardson JA, Charite J, Olson EN. Targeted deletion of a branchial arch-specific enhancer reveals a role of dHAND in craniofacial development. Development 2003, 130:1069-1078.
46. Rijli FM, Mark M, Lakkaraju S, Dierich A, Dolle P, Chambon P. A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene. Cell 1993, 75:1333-1349.
47. Grammatopoulos GA, Bell E, Toole L, Lumsden A, Tucker AS. Homeotic transformation of branchial arch identity after Hoxa2 overexpression. Development 2000, 127:5355-5365.
48. Manley NR, Capecchi MR. Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands. Dev Biol 1998, 195:1-15.
49. Kameda Y. Hoxa3 and signaling molecules involved in aortic arch patterning and remodeling. Cell Tissue Res 2009, 336:165-178.
50. Depew MJ, Lufkin T, Rubenstein JL. Specification of jaw subdivisions by Dlx genes. Science 2002, 298:381-385.
51. Morasso MI, Grinberg A, Robinson G, Sargent TD, Mahon KA. Placental failure in mice lacking the homeobox gene Dlx3. Proc Natl Acad Sci USA 1999, 96:162-167.
52. Nataf V, Grapin-Botton A, Champeval D, Amemiya A, Yanagisawa M, Le Douarin NM. The expression patterns of endothelin-A receptor and endothelin 1 in the avian embryo. Mech Dev 1998, 75:145-149.
53. Clouthier DE, Garcia E, Schilling TF. Regulation of facial morphogenesis by endothelin signaling: insights from mice and fish. Am J Med Genet A 2010, 152A:2962-2973.
54. Ruest LB, Xiang X, Lim KC, Levi G, Clouthier DE. Endothelin-A receptor-dependent and -independent signaling pathways in establishing mandibular identity. Development 2004, 131:4413-4423.
55. Kempf H, Linares C, Corvol P, Gasc JM. Pharmacological inactivation of the endothelin type A receptor in the early chick embryo: a model of mispatterning of the branchial arch derivatives. Development 1998, 125:4931-4941.
56. Vieux-Rochas M, Mantero S, Heude E, Barbieri O, Astigiano S, Couly G, Kurihara H, Levi G, Merlo GR. Spatio-temporal dynamics of gene expression of the Edn1-Dlx5/6 pathway during development of the lower jaw. Genesis 2010, 48:262-373.
57. Barron F, Woods C, Kuhn K, Bishop J, Howard MJ, Clouthier DE. Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis. Development 2011, 138:2249-2259.
58. Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, et al. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet 2012, 90:907-914.
59. Trainor PA, Krumlauf R. Hox genes, neural crest cells and branchial arch patterning. Curr Opin Cell Biol 2001, 13:698-705.
60. Hunt P, Krumlauf R. Hox genes coming to a head. Curr Biol 1991, 1:304-306.
61. Hunt P, Krumlauf R. Deciphering the Hox code: clues to patterning branchial regions of the head. Cell 1991, 66:1075-1078.
62. Gendron-Maguire M, Mallo M, Zhang M, Gridley T. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 1993, 75:1317-1331.
63. Pasqualetti M, Ori M, Nardi I, Rijli FM. Ectopic Hoxa2 induction after neural crest migration results in homeosis of jaw elements in Xenopus. Development 2000, 127:5367-5378.
64. Minoux M, Antonarakis GS, Kmita M, Duboule D, Rijli FM. Rostral and caudal pharyngeal arches share a common neural crest ground pattern. Development 2009, 136:637-645.
65. Chisaka O, Capecchi MR. Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5. Nature 1991, 350:473-479.
66. Marshall H, Morrison A, Studer M, Popperl H, Krumlauf R. Retinoids and Hox genes. FASEB J 1996, 10:969-978.
67. Nagpal S, Friant S, Nakshatri H, Chambon P. RARs and RXRs: evidence for two autonomous transactivation functions (AF-1 and AF-2) and heterodimerization in vivo. EMBO J 1993, 12:2349-2360.
68. Lee YM, Osumi-Yamashita N, Ninomiya Y, Moon CK, Eriksson U, Eto K. Retinoic acid stage-dependently alters the migration pattern and identity of hindbrain neural crest cells. Development 1995, 121:825-837.
69. Vieux-Rochas M, Coen L, Sato T, Kurihara Y, Gitton Y, Barbieri O, Le Blay K, Merlo G, Ekker M, Kurihara H, et al. Molecular dynamics of retinoic acid-induced craniofacial malformations: implications for the origin of gnathostome jaws. PLoS One 2007, 2:e510.