Scoliosis and segmentation defects of the vertebrae

Wiley Interdisciplinary Reviews: Developmental Biology

Volumn 1, Issue 3, 2012, Pages 401-423

  Eckalbar, Walter L ^a   Fisher, Rebecca E ^a,b   Rawls, Alan ^a   Kusumi, Kenro ^a  

^a ARIZONA STATE UNIVERSITY   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AXIN; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; CARRIER PROTEINS AND BINDING PROTEINS; DELTA LIKE 1 PROTEIN; DELTA LIKE 3 PROTEIN; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTOR RECEPTOR 1; LFNG PROTEIN; MYOCYTE ENHANCER FACTOR 2; NOTCH RECEPTOR; NOTCH1 RECEPTOR; PRESENILIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HES 1; TRANSCRIPTION FACTOR HES7; TRANSCRIPTION FACTOR MESP2; UNCLASSIFIED DRUG; WNT PROTEIN; WNT3A PROTEIN;

DEVELOPMENTAL DISORDER; EMBRYO SEGMENTATION; FUNCTIONAL ANATOMY; GENE EXPRESSION; GENE MUTATION; HUMAN; INTERVERTEBRAL DISK; JARCHO LEVIN SYNDROME; KLIPPEL FEIL SYNDROME; KYPHOSIS; LIGAMENT; LORDOSIS; MESODERM; MORPHOGENESIS; NONHUMAN; REVIEW; SCOLIOSIS; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; SOMITOGENESIS; TENDON; VERTEBRA;

ANIMALS; BODY PATTERNING; HUMANS; SCOLIOSIS; SIGNAL TRANSDUCTION; SPINE;

EID: 84872302881     PISSN: 17597684     EISSN: 17597692     Source Type: Journal    
DOI: 10.1002/wdev.34     Document Type: Review

References (221)

1. Moore KL, Dalley AF. Clinically Oriented Anatomy. Baltimore, MD: Lippincott Williams and Wilkins; 2006.
2. The Netter Collection of Medical Images. Available at: http://www.netterimages.com/. (Accessed January 16, 2012).
3. Anatomy Atlases: A Digital Library of Anatomy Information. Available at: http://www.anatomyatlases.org/. (Accessed January 16, 2012).
4. AnatQuest: Anatomy Images Online. Available at: http://anatline.nlm.nih.gov/. (Accessed January 16, 2012).
5. Buxton DF, Peck D. Neuromuscular spindles relative to joint movement complexities. Clin Anat 1989, 2:221-224.
6. Fidler MW, Jowett RL. Muscle imbalance in the aetiology of scoliosis. J Bone Joint Surg 1976, 58: 200-201.
7. Meier MP, Klein MP, Krebs D, Grob D, Muntener M. Fiber transformations in multifidus muscle of young patients with idiopathic scoliosis. Spine 1997, 22:2357-2364.
8. Mannion AF, Meier M, Grob D, Muntener M. Paraspinal muscle fibre type alterations associated with scoliosis: an old problem revisited with new evidence. Eur Spine J 1998, 7:289-293.
9. Chan YL, Cheng JC, Guo X, King AD, Griffith JF, Metreweli C. MRI evaluation of multifidus muscles in adolescent idiopathic scoliosis. Pediatr Radiol 1999, 29:360-363.
10. Zuk T. The role of spinal and abdominal muscles in the pathogenesis of scoliosis. J Bone Joint Surg 1962, 44:102-105.
11. Butterworth TR Jr, James C. Electromyographic studies in idiopathic scoliosis. South Med J 1969, 62:1008-1010.
12. Spencer GS, Zorab PA. Spinal muscle in scoliosis. Part 1. Histology and histochemistry. J Neurol Sci 1976, 30:137-142.
13. Alexander MA, Season EH. Idiopathic scoliosis: an electromyographic study. Arch Phys Med Rehabil 1978, 59:314-315.
14. Yarom R, Robin GC. Studies on spinal and peripheral muscles from patients with scoliosis. Spine 1979, 4:12-21.
15. Khosla S, Tredwell SJ, Day B, Shinn SL, Ovalle WK Jr. An ultrastructural study of multifidus muscle in progressive idiopathic scoliosis. Changes resulting from a sarcolemmal defect at the myotendinous junction. J Neurol Sci 1980, 46:13-31.
16. Reuber M, Schultz A, McNeill T, Spencer D. Trunk muscle myoelectric activities in idiopathic scoliosis. Spine 1983, 8:447-456.
17. Sahgal V, Shah A, Flanagan N, Schaffer M, Kane W, Subramani V, Singh H. Morphologic and morphometric studies of muscle in idiopathic scoliosis. Acta Orthop Scand 1983, 54:242-251.
18. Ford DM, Bagnall KM, McFadden KD, Greenhill BJ, Raso VJ. Paraspinal muscle imbalance in adolescent idiopathic scoliosis. Spine 1984, 9:373-376.
19. Bylund P, Jansson E, Dahlberg E, Eriksson E. Muscle fiber types in thoracic erector spinae muscles. Fiber types in idiopathic and other forms of scoliosis. Clin Orthop Relat Res 1987, 222-228.
20. Ciruna B, Rossant J. FGF signaling regulates mesoderm cell fate specification and morphogenetic movement at the primitive streak. Dev Cell 2001, 1:37-49.
21. Arnold SJ, Robertson EJ. Making a commitment: cell lineage allocation and axis patterning in the early mouse embryo. Nat Rev Mol Cell Biol 2009, 10:91-103.
22. Wilson V, Beddington RS. Cell fate and morphogenetic movement in the late mouse primitive streak. Mech Dev 1996, 55:79-89.
23. Tam PP, Tan SS. The somitogenetic potential of cells in the primitive streak and the tail bud of the organogenesis-stage mouse embryo. Development 1992, 115:703-715.
24. Goldman DC, Martin GR, Tam PP. Fate and function of the ventral ectodermal ridge during mouse tail development. Development 2000, 127:2113-2123.
25. Cooke J. The problem of periodic patterns in embryos. Philos Trans R Soc London B Biol Sci 1981, 295:509-524.
26. Cooke J, Zeeman EC. A clock and wavefront model for control of the number of repeated structures during animal morphogenesis. J Theor Biol 1976, 58:455-476.
27. Palmeirim I, Henrique D, Ish-Horowicz D, Pourquie O. Avian hairy gene expression identifies a molecular clock linked to vertebrate segmentation and somitogenesis. Cell 1997, 91:639-648.
28. Pourquié O, Tam PP. A nomenclature for prospective somites and phases of cyclic gene expression in the presomitic mesoderm. Dev Cell 2001, 1:619-620.
29. Sewell W, Sparrow DB, Smith AJ, Gonzalez DM, Rappaport EF, Dunwoodie SL, Kusumi K. Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis. Dev Biol 2009, 329:400-409.
30. Ozbudak EM, Pourquie O. The vertebrate segmentation clock: the tip of the iceberg. Curr Opin Genet Dev 2008, 18:317-323.
31. Jouve C, Palmeirim I, Henrique D, Beckers J, Gossler A, Ish-Horowicz D, Pourquie O. Notch signalling is required for cyclic expression of the hairy-like gene HES1 in the presomitic mesoderm. Development 2000, 127:1421-1429.
32. Dunwoodie SL, Clements M, Sparrow DB, Sa X, Conlon RA, Beddington RS. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development 2002, 129:1795-1806.
33. Bessho Y, Miyoshi G, Sakata R, Kageyama R. Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm. Genes Cells 2001, 6:175-185.
34. Leimeister C, Schumacher N, Steidl C, Gessler M. Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos. Mech Dev 2000, 98:175-178.
35. Leimeister C, Dale K, Fischer A, Klamt B, Hrabe de Angelis M, Radtke F, McGrew MJ, Pourquie O, Gessler M. Oscillating expression of c-Hey2 in the presomitic mesoderm suggests that the segmentation clock may use combinatorial signaling through multiple interacting bHLH factors. Dev Biol 2000, 227:91-103.
36. Cole SE, Levorse JM, Tilghman SM, Vogt TF. Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis. Dev Cell 2002, 3:75-84.
37. Morales AV, Yasuda Y, Ish-Horowicz D. Periodic Lunatic fringe expression is controlled during segmentation by a cyclic transcriptional enhancer responsive to notch signaling. Dev Cell 2002, 3:63-74.
38. Forsberg H, Crozet F, Brown NA. Waves of mouse Lunatic fringe expression, in four-hour cycles at two-hour intervals, precede somite boundary formation. Curr Biol 1998, 8:1027-1030.
39. McGrew MJ, Dale JK, Fraboulet S, Pourquie O. The lunatic fringe gene is a target of the molecular clock linked to somite segmentation in avian embryos. Curr Biol 1998, 8:979-982.
40. Aulehla A, Johnson RL. Dynamic expression of lunatic fringe suggests a link between notch signaling and an autonomous cellular oscillator driving somite segmentation. Dev Biol 1999, 207:49-61.
41. Moloney DJ, Panin VM, Johnston SH, Chen J, Shao L, Wilson R, Wang Y, Stanley P, Irvine KD, Haltiwanger RS, et al. Fringe is a glycosyltransferase that modifies Notch. Nature 2000, 406:369-375.
42. Dale JK, Maroto M, Dequeant ML, Malapert P, McGrew M, Pourquie O. Periodic notch inhibition by lunatic fringe underlies the chick segmentation clock. Nature 2003, 421:275-278.
43. Hicks C, Johnston SH, diSibio G, Collazo A, Vogt TF, Weinmaster G. Fringe differentially modulates Jagged1 and δ1 signalling through Notch1 and Notch2. Nat Cell Biol 2000, 2:515-520.
44. Bessho Y, Hirata H, Masamizu Y, Kageyama R. Periodic repression by the bHLH factor Hes7 is an essential mechanism for the somite segmentation clock. Genes Dev 2003, 17:1451-1456.
45. Conlon RA, Reaume AG, Rossant J. Notch1 is required for the coordinate segmentation of somites. Development 1995, 121:1533-1545.
46. Barrantes IB, Elia AJ, Wunsch K. Hrabe de Angelis MH, Mak TW, Rossant J, Conlon RA, Gossler A, de la Pompa JL. Interaction between Notch signalling and Lunatic fringe during somite boundary formation in the mouse. Curr Biol 1999, 9:470-480.
47. Oka C, Nakano T, Wakeham A, de la Pompa JL, Mori C, Sakai T, Okazaki S, Kawaichi M, Shiota K, Mak TW, et al. Disruption of the mouse RBP-J κ gene results in early embryonic death. Development 1995, 121:3291-3301.
48. Hrabe de Angelis M, McIntyre J II, Gossler A. Maintenance of somite borders in mice requires the δ homologue DII1. Nature 1997, 386:717-721.
49. Evrard YA, Lun Y, Aulehla A, Gan L, Johnson RL. Lunatic fringe is an essential mediator of somite segmentation and patterning. Nature 1998, 394: 377-381.
50. Zhang N, Gridley T. Defects in somite formation in lunatic fringe-deficient mice. Nature 1998, 394:374-377.
51. Shifley ET, Vanhorn KM, Perez-Balaguer A, Franklin JD, Weinstein M, Cole SE. Oscillatory lunatic fringe activity is crucial for segmentation of the anterior but not posterior skeleton. Development 2008, 135:899-908.
52. Kusumi K, Mimoto MS, Covello KL, Beddington RS, Krumlauf R, Dunwoodie SL. Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes. Genesis 2004, 39:115-121.
53. Kusumi K, Sun ES, Kerrebrock AW, Bronson RT, Chi DC, Bulotsky MS, Spencer JB, Birren BW, Frankel WN, Lander ES. The mouse pudgy mutation disrupts δ homologue Dll3 and initiation of early somite boundaries. Nat Genet 1998, 19:274-278.
54. Shen J, Bronson RT, Chen DF, Xia W, Selkoe DJ, Tonegawa S. Skeletal and CNS defects in Presenilin-1-deficient mice. Cell 1997, 89:629-639.
55. Bessho Y, Sakata R, Komatsu S, Shiota K, Yamada S, Kageyama R. Dynamic expression and essential functions of Hes7 in somite segmentation. Genes Dev 2001, 15:2642-2647.
56. Schuster-Gossler K, Harris B, Johnson KR, Serth J, Gossler A. Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development. BMC Dev Biol 2009, 9:6.
57. Gessler M, Knobeloch KP, Helisch A, Amann K, Schumacher N, Rohde E, Fischer A, Leimeister C. Mouse gridlock: no aortic coarctation or deficiency, but fatal cardiac defects in Hey2 -/- mice. Curr Biol 2002, 12:1601-1604.
58. Ishibashi M, Ang SL, Shiota K, Nakanishi S, Kageyama R, Guillemot F. Targeted disruption of mammalian hairy and enhancer of split homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects. Genes Dev 1995, 9:3136-3148.
59. Ohtsuka T, Ishibashi M, Gradwohl G, Nakanishi S, Guillemot F, Kageyama R. Hes1 and Hes5 as notch effectors in mammalian neuronal differentiation. EMBO J 1999, 18:2196-2207.
60. Lewis J. Autoinhibition with transcriptional delay: a simple mechanism for the zebrafish somitogenesis oscillator. Curr Biol 2003, 13:1398-1408.
61. Monk NA. Oscillatory expression of Hes1, p53, and NF-κB driven by transcriptional time delays. Curr Biol 2003, 13:1409-1413.
62. Hirata H, Bessho Y, Kokubu H, Masamizu Y, Yamada S, Lewis J, Kageyama R. Instability of Hes7 protein is crucial for the somite segmentation clock. Nat Genet 2004, 36:750-754.
63. Hirata H, Yoshiura S, Ohtsuka T, Bessho Y, Harada T, Yoshikawa K, Kageyama R. Oscillatory expression of the bHLH factor Hes1 regulated by a negative feedback loop. Science 2002, 298:840-843.
64. Aulehla A, Wehrle C, Brand-Saberi B, Kemler R, Gossler A, Kanzler B, Herrmann BG. Wnt3a plays a major role in the segmentation clock controlling somitogenesis. Dev Cell 2003, 4:395-406.
65. Dequeant ML, Glynn E, Gaudenz K, Wahl M, Chen J, Mushegian A, Pourquie O. A complex oscillating network of signaling genes underlies the mouse segmentation clock. Science 2006, 314:1595-1598.
66. William DA, Saitta B, Gibson JD, Traas J, Markov V, Gonzalez DM, Sewell W, Anderson DM, Pratt SC, Rappaport EF, et al. Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model. Dev Biol 2007, 305:172-186.
67. Glinka A, Wu W, Delius H, Monaghan AP, Blumenstock C, Niehrs C. Dickkopf-1 is a member of a new family of secreted proteins and functions in head induction. Nature 1998, 391:357-362.
68. He TC, Sparks AB, Rago C, Hermeking H, Zawel L, da Costa LT, Morin PJ, Vogelstein B, Kinzler KW. Identification of c-MYC as a target of the APC pathway. Science 1998, 281:1509-1512.
69. Weidinger G, Thorpe CJ, Wuennenberg-Stapleton K, Ngai J, Moon RT. The Sp1-related transcription factors sp5 and sp5-like act downstream of Wnt/β-catenin signaling in mesoderm and neuroectoderm patterning. Curr Biol 2005, 15:489-500.
70. Suriben R, Fisher DA, Cheyette BN. Dact1 presomitic mesoderm expression oscillates in phase with Axin2 in the somitogenesis clock of mice. Dev Dyn 2006, 235:3177-3183.
71. Dunty WC Jr, Biris KK, Chalamalasetty RB, Taketo MM, Lewandoski M, Yamaguchi TP. Wnt3a/β-catenin signaling controls posterior body development by coordinating mesoderm formation and segmentation. Development 2008, 135:85-94.
72. Aulehla A, Wiegraebe W, Baubet V, Wahl MB, Deng C, Taketo M, Lewandoski M, Pourquie O. A β-catenin gradient links the clock and wavefront systems in mouse embryo segmentation. Nat Cell Biol 2008, 10:186-193.
73. Yu HM, Jerchow B, Sheu TJ, Liu B, Costantini F, Puzas JE, Birchmeier W, Hsu W. The role of Axin2 in calvarial morphogenesis and craniosynostosis. Development 2005, 132:1995-2005.
74. Camenisch TD, Spicer AP, Brehm-Gibson T, Biesterfeldt J, Augustine ML, Calabro A Jr, Kubalak S, Klewer SE, McDonald JA. Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme. J Clin Invest 2000, 106:349-360.
75. Harrison SM, Houzelstein D, Dunwoodie SL, Beddington RS. Sp5, a new member of the Sp1 family, is dynamically expressed during development and genetically interacts with Brachyury. Dev Biol 2000, 227:358-372.
76. Trumpp A, Refaeli Y, Oskarsson T, Gasser S, Murphy M, Martin GR, Bishop JM. c-Myc regulates mammalian body size by controlling cell number but not cell size. Nature 2001, 414:768-773.
77. Dequeant ML, Pourquie O. Segmental patterning of the vertebrate embryonic axis. Nat Rev Genet 2008, 9:370-382.
78. Dale JK, Malapert P, Chal J, Vilhais-Neto G, Maroto M, Johnson T, Jayasinghe S, Trainor P, Herrmann B, Pourquie O. Oscillations of the snail genes in the presomitic mesoderm coordinate segmental patterning and morphogenesis in vertebrate somitogenesis. Dev Cell 2006, 10:355-366.
79. Niwa Y, Masamizu Y, Liu T, Nakayama R, Deng CX, Kageyama R. The initiation and propagation of Hes7 oscillation are cooperatively regulated by Fgf and notch signaling in the somite segmentation clock. Dev Cell 2007, 13:298-304.
80. Ishitani T, Matsumoto K, Chitnis AB, Itoh M. Nrarp functions to modulate neural-crest-cell differentiation by regulating LEF1 protein stability. Nat Cell Biol 2005, 7:1106-1112.
81. Hayashi S, Shimoda T, Nakajima M, Tsukada Y, Sakumura Y, Dale JK, Maroto M, Kohno K, Matsui T, Bessho Y. Sprouty4, an FGF inhibitor, displays cyclic gene expression under the control of the notch segmentation clock in the mouse PSM. PloS One 2009, 4:e5603.
82. Krebs LT, Deftos ML, Bevan MJ, Gridley T. The Nrarp gene encodes an ankyrin-repeat protein that is transcriptionally regulated by the notch signaling pathway. Dev Biol 2001, 238:110-119.
83. Lamar E, Deblandre G, Wettstein D, Gawantka V, Pollet N, Niehrs C, Kintner C. Nrarp is a novel intracellular component of the Notch signaling pathway. Genes Dev 2001, 15:1885-1899.
84. Pirot P, van Grunsven LA, Marine JC, Huylebroeck D, Bellefroid EJ. Direct regulation of the Nrarp gene promoter by the Notch signaling pathway. Biochem Biophys Res Commun 2004, 322:526-534.
85. Ishikawa A, Kitajima S, Takahashi Y, Kokubo H, Kanno J, Inoue T, Saga Y. Mouse Nkd1, a Wnt antagonist, exhibits oscillatory gene expression in the PSM under the control of Notch signaling. Mech Dev 2004, 121:1443-1453.
86. Zhang S, Cagatay T, Amanai M, Zhang M, Kline J, Castrillon DH, Ashfaq R, Oz OK, Wharton KA Jr. Viable mice with compound mutations in the Wnt/Dvl pathway antagonists nkd1 and nkd2. Mol Cell Biol 2007, 27:4454-4464.
87. Wahl MB, Deng C, Lewandoski M, Pourquie O. FGF signaling acts upstream of the NOTCH and WNT signaling pathways to control segmentation clock oscillations in mouse somitogenesis. Development 2007, 134:4033-4041.
88. Aulehla A, Herrmann BG. Segmentation in vertebrates: clock and gradient finally joined. Genes Dev 2004, 18:2060-2067.
89. Nakaya MA, Biris K, Tsukiyama T, Jaime S, Rawls JA, Yamaguchi TP. Wnt3a links left-right determination with segmentation and anteroposterior axis elongation. Development 2005, 132:5425-5436.
90. Elsdale T, Pearson M, Whitehead M. Abnormalities in somite segmentation following heat shock to Xenopus embryos. J Embryol Exp Morphol 1976, 35:625-635.
91. Dubrulle J, McGrew MJ, Pourquie O. FGF signaling controls somite boundary position and regulates segmentation clock control of spatiotemporal Hox gene activation. Cell 2001, 106:219-232.
92. Diez del Corral R, Olivera-Martinez I, Goriely A, Gale E, Maden M, Storey K. Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension. Neuron 2003, 40:65-79.
93. Moreno TA, Kintner C. Regulation of segmental patterning by retinoic acid signaling during Xenopus somitogenesis. Dev Cell 2004, 6:205-218.
94. Sirbu IO, Duester G. Retinoic-acid signalling in node ectoderm and posterior neural plate directs left-right patterning of somitic mesoderm. Nat Cell Biol 2006, 8:271-277.
95. Vermot J, Gallego Llamas J, Fraulob V, Niederreither K, Chambon P, Dolle P. Retinoic acid controls the bilateral symmetry of somite formation in the mouse embryo. Science 2005, 308:563-566.
96. Sawada A, Shinya M, Jiang YJ, Kawakami A, Kuroiwa A, Takeda H. Fgf/MAPK signalling is a crucial positional cue in somite boundary formation. Development 2001, 128:4873-4880.
97. Dubrulle J, Pourquie O. fgf8 mRNA decay establishes a gradient that couples axial elongation to patterning in the vertebrate embryo. Nature 2004, 427:419-422.
98. Delfini MC, Dubrulle J, Malapert P, Chal J, Pourquie O. Control of the segmentation process by graded MAPK/ERK activation in the chick embryo. Proc Natl Acad Sci U S A 2005, 102:11343-11348.
99. Niederreither K, Abu-Abed S, Schuhbaur B, Petkovich M, Chambon P, Dolle P. Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development. Nat Genet 2002, 31:84-88.
100. Niederreither K, Fraulob V, Garnier JM, Chambon P, Dolle P. Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse. Mech Dev 2002, 110:165-171.
101. Aoyama H, Asamoto K. Determination of somite cells: independence of cell differentiation and morphogenesis. Development 1988, 104:15-28.
102. Nomura-Kitabayashi A, Takahashi Y, Kitajima S, Inoue T, Takeda H, Saga Y. Hypomorphic Mesp allele distinguishes establishment of rostrocaudal polarity and segment border formation in somitogenesis. Development 2002, 129:2473-2481.
103. Saga Y, Hata N, Koseki H, Taketo MM. Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation. Genes Dev 1997, 11:1827-1839.
104. Takahashi Y, Koizumi K, Takagi A, Kitajima S, Inoue T, Koseki H, Saga Y. Mesp2 initiates somite segmentation through the Notch signalling pathway. Nat Genet 2000, 25:390-396.
105. Yasuhiko Y, Haraguchi S, Kitajima S, Takahashi Y, Kanno J, Saga Y. Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression. Proc Natl Acad Sci U S A 2006, 103:3651-3656.
106. Morimoto M, Sasaki N, Oginuma M, Kiso M, Igarashi K, Aizaki K, Kanno J, Saga Y. The negative regulation of Mesp2 by mouse Ripply2 is required to establish the rostro-caudal patterning within a somite. Development 2007, 134:1561-1569.
107. Koizumi K, Nakajima M, Yuasa S, Saga Y, Sakai T, Kuriyama T, Shirasawa T, Koseki H. The role of presenilin 1 during somite segmentation. Development 2001, 128:1391-1402.
108. Takahashi Y, Inoue T, Gossler A, Saga Y. Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites. Development 2003, 130:4259-4268.
109. Henry CA, Hall LA, Burr Hille M, Solnica-Krezel L, Cooper MS. Somites in zebrafish doubly mutant for knypek and trilobite form without internal mesenchymal cells or compaction. Curr Biol 2000, 10:1063-1066.
110. Jiang YJ, Aerne BL, Smithers L, Haddon C, Ish-Horowicz D, Lewis J. Notch signalling and the synchronization of the somite segmentation clock. Nature 2000, 408:475-479.
111. Wood A, Thorogood P. Patterns of cell behaviour underlying somitogenesis and notochord formation in intact vertebrate embryos. Dev Dyn 1994, 201:151-167.
112. Afonin B, Ho M, Gustin JK, Meloty-Kapella C, Domingo CR. Cell behaviors associated with somite segmentation and rotation in Xenopus laevis. Dev Dyn 2006, 235:3268-3279.
113. Kulesa PM, Fraser SE. Cell dynamics during somite boundary formation revealed by time-lapse analysis. Science 2002, 298:991-995.
114. Kulesa PM, Schnell S, Rudloff S, Baker RE, Maini PK. From segment to somite: segmentation to epithelialization analyzed within quantitative frameworks. Dev Dyn 2007, 236:1392-1402.
115. Sato Y, Yasuda K, Takahashi Y. Morphological boundary forms by a novel inductive event mediated by Lunatic fringe and Notch during somitic segmentation. Development 2002, 129:3633-3644.
116. Buchberger A, Seidl K, Klein C, Eberhardt H, Arnold HH. cMeso-1, a novel bHLH transcription factor, is involved in somite formation in chicken embryos. Dev Biol 1998, 199:201-215.
117. Takahashi Y, Sato Y. Somitogenesis as a model to study the formation of morphological boundaries and cell epithelialization. Dev Growth Differ 2008, 50(suppl 1):S149-S155.
118. Tanaka M, Tickle C. Tbx18 and boundary formation in chick somite and wing development. Dev Biol 2004, 268:470-480.
119. Sato Y, Takahashi Y. A novel signal induces a segmentation fissure by acting in a ventral-to-dorsal direction in the presomitic mesoderm. Dev Biol 2005, 282:183-191.
120. Dubrulle J, Pourquie O. Coupling segmentation to axis formation. Development 2004, 131:5783-5793.
121. Correia KM, Conlon RA. Surface ectoderm is necessary for the morphogenesis of somites. Mech Dev 2000, 91:19-30.
122. Duband JL, Dufour S, Hatta K, Takeichi M, Edelman GM, Thiery JP. Adhesion molecules during somitogenesis in the avian embryo. J Cell Biol 1987, 104:1361-1374.
123. Geetha-Loganathan P, Nimmagadda S, Huang R, Christ B, Scaal M. Regulation of ectodermal Wnt6 expression by the neural tube is transduced by dermomyotomal Wnt11: a mechanism of dermomyotomal lip sustainment. Development 2006, 133:2897-2904.
124. Linker C, Lesbros C, Gros J, Burrus LW, Rawls A, Marcelle C. β-Catenin-dependent Wnt signalling controls the epithelial organisation of somites through the activation of paraxis. Development 2005, 132:3895-3905.
125. Schmidt C, Stoeckelhuber M, McKinnell I, Putz R, Christ B, Patel K. Wnt 6 regulates the epithelialisation process of the segmental plate mesoderm leading to somite formation. Dev Biol 2004, 271:198-209.
126. Sosic D, Brand-Saberi B, Schmidt C, Christ B, Olson EN. Regulation of paraxis expression and somite formation by ectoderm- and neural tube-derived signals. Dev Biol 1997, 185:229-243.
127. Wagner J, Schmidt C, Nikowits W Jr, Christ B. Compartmentalization of the somite and myogenesis in chick embryos are influenced by wnt expression. Dev Biol 2000, 228:86-94.
128. Keynes RJ, Stern CD. Mechanisms of vertebrate segmentation. Development 1988, 103:413-429.
129. Horikawa K, Radice G, Takeichi M, Chisaka O. Adhesive subdivisions intrinsic to the epithelial somites. Dev Biol 1999, 215:182-189.
130. Linask KK, Ludwig C, Han MD, Liu X, Radice GL, Knudsen KA. N-cadherin/catenin-mediated morphoregulation of somite formation. Dev Biol 1998, 202:85-102.
131. Radice GL, Rayburn H, Matsunami H, Knudsen KA, Takeichi M, Hynes RO. Developmental defects in mouse embryos lacking N-cadherin. Dev Biol 1997, 181:64-78.
132. Tam PP, Trainor PA. Specification and segmentation of the paraxial mesoderm. Anat Embryol 1994, 189:275-305.
133. Burgess R, Cserjesi P, Ligon KL, Olson EN. Paraxis: a basic helix-loop-helix protein expressed in paraxial mesoderm and developing somites. Dev Biol 1995, 168:296-306.
134. Burgess R, Rawls A, Brown D, Bradley A, Olson EN. Requirement of the paraxis gene for somite formation and musculoskeletal patterning. Nature 1996, 384:570-573.
135. Schubert FR, Tremblay P, Mansouri A, Faisst AM, Kammandel B, Lumsden A, Gruss P, Dietrich S. Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites. Dev Dyn 2001, 222:506-521.
136. Nakaya Y, Kuroda S, Katagiri YT, Kaibuchi K, Takahashi Y. Mesenchymal-epithelial transition during somitic segmentation is regulated by differential roles of Cdc42 and Rac1. Dev Cell 2004, 7:425-438.
137. Barrallo-Gimeno A, Nieto MA. The Snail genes as inducers of cell movement and survival: implications in development and cancer. Development 2005, 132:3151-3161.
138. Batlle E, Sancho E, Franci C, Dominguez D, Monfar M, Baulida J, Garcia De Herreros A. The transcription factor snail is a repressor of E-cadherin gene expression in epithelial tumour cells. Nat Cell Biol 2000, 2:84-89.
139. Cano A, Perez-Moreno MA, Rodrigo I, Locascio A, Blanco MJ, del Barrio MG, Portillo F, Nieto MA. The transcription factor snail controls epithelial-mesenchymal transitions by repressing E-cadherin expression. Nat Cell Biol 2000, 2:76-83.
140. Denetclaw WF Jr, Christ B, Ordahl CP. Location and growth of epaxial myotome precursor cells. Development 1997, 124:1601-1610.
141. Ordahl CP, Le Douarin NM. Two myogenic lineages within the developing somite. Development 1992, 114:339-353.
142. Denetclaw WF, Ordahl CP. The growth of the dermomyotome and formation of early myotome lineages in thoracolumbar somites of chicken embryos. Development 2000, 127:893-905.
143. Kahane N, Cinnamon Y, Kalcheim C. The cellular mechanism by which the dermomyotome contributes to the second wave of myotome development. Development 1998, 125:4259-4271.
144. Ordahl CP, Berdougo E, Venters SJ, Denetclaw WF Jr. The dermomyotome dorsomedial lip drives growth and morphogenesis of both the primary myotome and dermomyotome epithelium. Development 2001, 128:1731-1744.
145. Venters SJ, Thorsteinsdottir S, Duxson MJ. Early development of the myotome in the mouse. Dev Dyn 1999, 216:219-232.
146. Molkentin JD, Olson EN. Defining the regulatory networks for muscle development. Curr Opin Genet Dev 1996, 6:445-453.
147. Borycki A, Brown AM, Emerson CP Jr. Shh and Wnt signaling pathways converge to control Gli gene activation in avian somites. Development 2000, 127:2075-2087.
148. Cossu G, Borello U. Wnt signaling and the activation of myogenesis in mammals. EMBO J 1999, 18:6867-6872.
149. Reshef R, Maroto M, Lassar AB. Regulation of dorsal somitic cell fates: BMPs and Noggin control the timing and pattern of myogenic regulator expression. Genes Dev 1998, 12:290-303.
150. Jacob HJ, Christ B. On the formation of muscular pattern in the chick limb. In: Merker H-J, Nau H, Neubert D, eds. Teratology of the Limbs. Berlin: Walter de Gruyter and Co.; 1980, 89-97.
151. Kardon G, Harfe BD, Tabin CJ. A Tcf4-positive mesodermal population provides a prepattern for vertebrate limb muscle patterning. Dev Cell 2003, 5:937-944.
152. Yang X, Arber S, William C, Li L, Tanabe Y, Jessell TM, Birchmeier C, Burden SJ. Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron 2001, 30:399-410.
153. Alvares LE, Schubert FR, Thorpe C, Mootoosamy RC, Cheng L, Parkyn G, Lumsden A, Dietrich S. Intrinsic, Hox-dependent cues determine the fate of skeletal muscle precursors. Dev Cell 2003, 5:379-390.
154. Ashby P, Chinnah T, Zakany J, Duboule D, Tickle C. Muscle and tendon pattern is altered independently of skeletal pattern in HoxD mutant limbs. J Anat 2002, 201:422.
155. Dockter JL. Sclerotome induction and differentiation. Curr Top Dev Biol 2000, 48:77-127.
156. Brand-Saberi B, Christ B. Evolution and development of distinct cell lineages derived from somites. Curr Top Dev Biol 2000, 48:1-42.
157. Pourquie O, Coltey M, Teillet MA, Ordahl C, Le Douarin NM. Control of dorsoventral patterning of somitic derivatives by notochord and floor plate. Proc Natl Acad Sci U S A 1993, 90:5242-5246.
158. Fan CM, Tessier-Lavigne M. Patterning of mammalian somites by surface ectoderm and notochord: evidence for sclerotome induction by a hedgehog homolog. Cell 1994, 79:1175-1186.
159. Furumoto TA, Miura N, Akasaka T, Mizutani-Koseki Y, Sudo H, Fukuda K, Maekawa M, Yuasa S, Fu Y, Moriya H, et al. Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development. Dev Biol 1999, 210:15-29.
160. McMahon JA, Takada S, Zimmerman LB, Fan CM, Harland RM, McMahon AP. Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite. Genes Dev 1998, 12:1438-1452.
161. Peters H, Doll U, Niessing J. Differential expression of the chicken Pax-1 and Pax-9 gene: in situ hybridization and immunohistochemical analysis. Dev Dyn 1995, 203:1-16.
162. Peters H, Wilm B, Sakai N, Imai K, Maas R, Balling R. Pax1 and Pax9 synergistically regulate vertebral column development. Development 1999, 126: 5399-5408.
163. Mankoo BS, Skuntz S, Harrigan I, Grigorieva E, Candia A, Wright CV, Arnheiter H, Pachnis V. The concerted action of Meox homeobox genes is required upstream of genetic pathways essential for the formation, patterning and differentiation of somites. Development 2003, 130:4655-4664.
164. Skuntz S, Mankoo B, Nguyen MT, Hustert E, Nakayama A, Tournier-Lasserve E, Wright CV, Pachnis V, Bharti K, Arnheiter H. Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton. Dev Biol 2009, 332:383-395.
165. Monsoro-Burq AH, Bontoux M, Teillet MA, Le Douarin NM. Heterogeneity in the development of the vertebra. Proc Natl Acad Sci U S A 1994, 91:10435-10439.
166. Monsoro-Burq AH, Duprez D, Watanabe Y, Bontoux M, Vincent C, Brickell P, Le Douarin N. The role of bone morphogenetic proteins in vertebral development. Development 1996, 122:3607-3616.
167. Watanabe Y, Duprez D, Monsoro-Burq AH, Vincent C, Le Douarin NM. Two domains in vertebral development: antagonistic regulation by SHH and BMP4 proteins. Development 1998, 125:2631-2639.
168. Goldstein RS, Kalcheim C. Determination of epithelial half-somites in skeletal morphogenesis. Development 1992, 116:441-445.
169. Brent AE, Schweitzer R, Tabin CJ. A somitic compartment of tendon progenitors. Cell 2003, 113:235-248.
170. Brent AE, Braun T, Tabin CJ. Genetic analysis of interactions between the somitic muscle, cartilage and tendon cell lineages during mouse development. Development 2005, 132:515-528.
171. Brent AE, Tabin CJ. FGF acts directly on the somitic tendon progenitors through the Ets transcription factors Pea3 and Erm to regulate scleraxis expression. Development 2004, 131:3885-3896.
172. Smith TG, Sweetman D, Patterson M, Keyse SM, Munsterberg A. Feedback interactions between MKP3 and ERK MAP kinase control scleraxis expression and the specification of rib progenitors in the developing chick somite. Development 2005, 132:1305-1314.
173. Purkiss SB, Driscoll B, Cole WG, Alman B. Idiopathic scoliosis in families of children with congenital scoliosis. Clin Orthop Relat Res 2002, 401:27-31.
174. McMaster MJ. Congenital scoliosis. In: Weinstein SL, ed. The Pediatric Spine: Principles and Practice. Philadelphia, PA: Lippincott Williams & Wilkins; 2001, 161-177.
175. Shahcheraghi GH, Hobbi MH. Patterns and progression in congenital scoliosis. J Pediatr Orthop 1999, 19:766-775.
176. Winter R, Moe J, Eilers V. Congenital scoliosis: a study of 234 patients treated and untreated. J Bone Joint Surg Am 1968, 50:15-47.
177. Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, Weber S, Devroy S, Swaney S, Dobbs M, et al. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. Am J Hum Genet 2007, 80:957-965.
178. Wynne-Davies R. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J Med Genet 1975, 12:280-288.
179. Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD. Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae. Am J Med Genet A 2010, 152A:1357-1371.
180. Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquie O, Kusumi K, Dunwoodie S. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn 2007, 236:1456-1474.
181. Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999, 65:175-182.
182. Turnpenny PD, Kusumi K. DLL3 and spondylocostal dysostosis. In: Epstein C, Erickson R, Wynshaw-Boris A, eds. Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. New York, NY: Oxford University Press; 2004, 420-481.
183. Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Mutations in the human δ homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000, 24:438-441.
184. Loomes KM, Stevens SA, O'Brien ML, Gonzalez DM, Ryan MJ, Segalov M, Dormans NJ, Mimoto MS, Gibson JD, Sewell W, et al. Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects. Dev Dyn 2007, 236:2943-2951.
185. Maisenbacher MK, Han JS, O'Brien ML, Tracy MR, Erol B, Schaffer AA, Dormans JP, Zackai EH, Kusumi K. Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet 2005, 116:416-419.
186. Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 2004, 74:1249-1254.
187. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet 2008, 82:1334-1341.
188. Cornier AS. Spondylothoracic dysostosis in Puerto Rico. In: Kusumi K, Dunwoodie SL, eds. The Genetics and Development of Scoliosis. New York, NY: Springer Science+Business Media, LLC; 2010, 109-126.
189. Haines N, Irvine KD. Glycosylation regulates Notch signalling. Nat Rev Mol Cell Biol 2003, 4:786-797.
190. Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 2006, 78:28-37.
191. Sparrow DB, Guillen-Navarro E, Fatkin D, Dunwoodie SL. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet 2008, 17:3761-3766.
192. Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, et al. A missense T (Brachyury) mutation contributes to vertebral malformations. J Bone Miner Res 2008, 23:1576-1583.
193. Ghebranious N, Burmester JK, Glurich I, McPherson E, Ivacic L, Kislow J, Rasmussen K, Kumar V, Raggio CL, Blank RD, et al. Evaluation of SLC35A3 as a candidate gene for human vertebral malformations. Am J Med Genet A 2006, 140:1346-1348.
194. Ghebranious N, Raggio CL, Blank RD, McPherson E, Burmester JK, Ivacic L, Rasmussen K, Kislow J, Glurich I, Jacobsen FS, et al. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis 2007, 2:13.
195. Giampietro PF, Raggio CL, Reynolds CE, Shukla SK, McPherson E, Ghebranious N, Jacobsen FS, Kumar V, Faciszewski T, Pauli RM, et al. An analysis of PAX1 in the development of vertebral malformations. Clin Genet 2005, 68:448-453.
196. Papapetrou C, Drummond F, Reardon W, Winter R, Spitz L, Edwards YH. A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. J Med Genet 1999, 36:208-213.
197. Klippel M, Feil A. Un cas d'absence des vertebres cervicales avec cage thoracique remontant jusqu'a la base du crane. Nous Icon Salpetriere 1912, 25:223-250.
198. Klippel M, Feil A. The classic: a case of absence of cervical vertebrae with the thoracic cage rising to the base of the cranium (cervical thoracic cage). Clin Orthop Relat Res 1975, 3-8.
199. Dietz F. Congenital abnormalities of the cervical spine. In: Weinstein SL, ed. The Pediatric Spine-Principles and Practice. Philadelphia, PA: Lippincott, Williams, and Wilkins; 2001, 239-251.
200. Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg 1974, 56:1246-1253.
201. Herman MJ, Pizzutillo PD. Cervical spine disorders in children. Orthop Clin North America 1999, 30:457-466.
202. Theiss SM, Smith MD, Winter RB. The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine 1997, 22:1219-1222.
203. Warner WC. Pediatric cervical spine. In: Canale ST, ed. Campbell's Operative Orthopaedics. St. Louis, MO: Mosby; 1998, 2815-2847.
204. Copley LA, Dormans JP. Cervical spine disorders in infants and children. J Am Acad Orthop Surg 1998, 6:204-214.
205. Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine 1997, 22:396-401.
206. Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet 2010, 19:287-298.
207. Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, et al. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet 2009, 18:1110-1121.
208. Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat 2008, 29:1017-1027.
209. Settle SH Jr, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM. Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev Biol 2003, 254:116-130.
210. Saga Y, Takeda H. The making of the somite: molecular events in vertebrate segmentation. Nat Rev Genet 2001, 2:835-845.
211. O'Rahilly R, Muller F, Meyer DB. The human vertebral column at the end of the embryonic period proper. 1. The column as a whole. J Anat 1980, 131:565-575.
212. Ingalls TH, Curley FJ. Principles governing the genesis of congenital malformations induced in mice by hypoxia. N Eng J Med 1957, 257:1121-1127.
213. Murakami U, Kameyama Y. Vertebral malformations in the mouse fetus caused by maternal hypoxia during early stages of pregnancy. J Embryol Exp Morphol 1963, 11:107-118.
214. Rivard CH, Narbaitz R, Uhthoff HK. Time of induction of congenital vertebral malformations in human and mouse embryo. Orthop Rev 1979, 8:135-139.
215. Loder RT, Hernandez MJ, Lerner AL, Winebrener DJ, Goldstein SA, Hensinger RN, Liu CY, Schork MA. The induction of congenital spinal deformities in mice by maternal carbon monoxide exposure. J Pediatr Orthop 2000, 20:662-666.
216. Murray FJ, Schwetz BA, Crawford AA, Henck JW, Quast JF, Staples RE. Embryotoxicity of inhaled sulfur dioxide and carbon monoxide in mice and rabbits. J Environ Sci Health C 1979, 13:233-250.
217. Schwetz BA, Smith FA, Leong BK, Staples RE. Teratogenic potential of inhaled carbon monoxide in mice and rabbits. Teratology 1979, 19:385-392.
218. Singh J, Aggison L Jr, Moore-Cheatum L. Teratogenicity and developmental toxicity of carbon monoxide in protein-deficient mice. Teratology 1993, 48:149-159.
219. Statistics NCfH. Health, United States, 2008, with chartbook. 2009.
220. Giampietro PF. Progress in understanding genetic contributions in syndromic and non-syndromic disorders associated with congenital, neuromuscular, and idiopathic scoliosis. In: Kusumi K, Dunwoodie SL, eds. The Genetics and Development of Scoliosis. New York, NY: Springer Science+Business Media LLC; 2010, 127-152.
221. Rawls A, Fisher RE. Development and Functional Anatomy of the Spine. In: Kusumi K, Dunwoodie SL, eds. The Genetics and Development of Scoliosis, 21. Springer Science+Business Media, LLC; 2010. doi:10. 1007/978-1-4419-1406-4_2.