The developing limb and the control of the number of digits

Clinical Genetics

Volumn 67, Issue 2, 2005, Pages 143-153

  Talamillo, A ^a   Bastida, Mf ^a   Fernandez Teran, M ^a   Ros, María A ^a  

^a UNIVERSITY OF CANTABRIA   (Spain)

Author keywords

Digit morphogenesis; Limb development; Limb malformation; Polydactyly

Indexed keywords

FIBROBLAST GROWTH FACTOR; SONIC HEDGEHOG PROTEIN;

HAND FOOT SYNDROME; HUMAN; LIMB DEVELOPMENT; MOLECULAR MECHANICS; MORPHOGENESIS; POLYDACTYLY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SYSTEMATIC REVIEW;

FOOT; HAND; HUMANS; PHENOTYPE; POLYDACTYLY;

EID: 14244261038     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00404.x     Document Type: Review

References (100)

1. Lamb DW, Wynne-Davies R, Soto L. An estimate of the population frequency of congenital malformations of the upper limb. J Hand Surg 1982: 7: 557-562.
2. Graham TJ, Ress AM. Finger polydactyty. Hand Clin 1998: 14: 49-64.
3. Temtamy S, Mckusick V. Polydactyly as an isolated malformation. In: The genetics of hand malformations. Birth defects (Temtamy S, McKusick V, eds). New York: Alan R Liss, Inc., 1978: 14: 364-392.
4. McKusick VA. Mendelian inheritance in man, 10th edn. Baltimore: John Hopkins University Press, 1992.
5. Niswander L. Pattern formation: old models out on a limb. Nat Rev Genet 2003: 4: 133-143.
6. Mariani FV, Martin GR. Deciphering skeletal patterning: clues from the limb. Nature 2003: 423: 319-325.
7. Tickle C. Patterning systems-from one end of the limb to the other. Dev Cell 2003: 4: 449-458.
8. Saunders JW. The proximo-distal sequence origin of the parts of the chick wing and the role of the ectoderm. J Exp Zool 1948: 108: 363-404.
9. Barrow JR, Thomas KR, Boussadia-Zahui O et al. Ectodermal Wnt3/b-catenin signaling is required for the establishment and maintenance of the apical ectodermal ridge. Genes Dev 2003: 17: 394-409.
10. Ros MA, Lopez-Martinez A, Simandl BK et al. The limb field mesoderm determines initial limb bud anteroposterior asymmetry and budding independent of sonic hedgehog or apical ectodermal gene expressions. Development 1996: 122: 2319-2330.
11. Soshnikova N, Zeechner JH, Mishina Y et al. Genetic interaction between Wnt/βcatenin and BMP receptor signaling during formation of the AER and the dorsal-ventral axis in the limb. Genes Dev 2003: 17: 1963-1968.
12. Summerbell D, Lewis JH, Wolpert L. Positional information in chick limb morphogenesis. Nature 1973: 224: 492-496.
13. Dudley AT, Ros MA, Tabin CJ. A re-examination of proximodistal patterning during vertebrate limb development. Nature 2002: 418: 539-544.
14. Niswander L, Tickle C, Vogel A, Booth I, Martin GR. FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb. Cell 1993: 75: 579-587.
15. Fallon J, Lopez A, Ros M, Savage M, Olwin B, Simandl B. FGF-2, apical ectodermal ridge growth signal for chick limb development. Science 1994: 264: 104-107.
16. Crossley PH, Minowada G, Macarthur CA, Martin GR. Roles for FGF-8 in the induction, initiation and maintenance of chick limb development. Cell 1996: 84: 127-136.
17. Martin GR. The roles of FGFs in the early development of vertebrate limbs. Genes Dev 1998: 12: 1571-1586.
18. Cohn M, Izpisua-Belmonte JC, Abud H, Heath JK, Tickle C. Fibroblast growth factors induce additional limb development from the flank of chick embryos. Cell 1995: 80: 739-746.
19. Ohuchi H, Nakagawa T, Yamamoto A et al. The mesenchymal factor, FGF10 initiates and maintains the outgrowth of the chick limb bud through interaction with FGF8, and apical ectodermal factor. Development 1997: 124: 2235-2244.
20. Kawakami Y, Capdevila J, Buscher D et al. WNT signals control FGF-dependent limb initiation and AER induction in the chick embryo. Cell 2001: 104: 891-900.
21. Niemann S, Zhao C, Pascu F et al. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 2004: 74: 558-563.
22. Pizette S, Abate-Shen C, Niswander L. BMP controls proximodistal outgrowth, via induction of the apical ectodermal ridge, and dorsoventral patterning in the vertebrate limb. Development 2001: 128: 4463-4474.
23. Ahn K, Mishina Y, Hanks MC, Behringer RR, Crenshaw EB III. BMPR-IA signaling is required for the formation of the apical ectodermal ridge and dorsal-ventral patterning of the limb. Development 2001: 128: 4449-4461.
24. Saunders JW, Gasseling MT. Ectodermal-mesenchymal interactions in the origin of limb asymmetry. In: Epithelial mesenchymal interactions (Fleischmeyer R, Billingham RE, eds). Baltimore: Williams & Wilkins, 1968: 78-97.
25. Tickle C, Alberts B, Wolpert L, Lee J. Local application of retinoic acid to the limb mimics the action of the polarizing region. Nature 1982: 296: 564-566.
26. Summerbell D. The effect of local application of retinoic, acid to the anterior margin of the developing chick limb. J Embryol Exp Morphol 1983: 78: 269-289.
27. Wanek N, Gardinier DM, Muneoka K, Bryant SV. Conversion by retinoic acid of anterior cells into a ZPA in the chick wing bud. Nature 1991: 350: 81-83.
28. Noji S, Nohno T, Koyama E et al. Retinoic acid induces polarizing activity but is unlikely to be a morphogen in the chick limb bud. Nature 1991: 350: 83-87.
29. Riddle RD, Johnson RL, Laufer E, Tabin C. Sonic Hedgehog mediates the polarizing activity of the ZPA. Cell 1993: 75: 1401-1416.
30. Ericson J, Muhr J, Jessell TM, Edlund T. Sonic hedgehog: a commom signal for ventral patterning along the rostrocaudal axis of the neural tube. Int J Dev Biol 1995: 39: 809-816.
31. Lopez-Martinez A, Chang DT, Chiang C et al. Limb patterning activity and restricted posterior localization of the amino-terminal product of Sonic hedgehog cleavage. Curr Biol 1995: 5: 791-796.
32. Yang Y, Drossopoulou G, Chuang PT et al. Relationship between dose, distance and time in Sonic Hedgehog-mediated regulation of anteroposterior polarity in the chick limb. Development 1997: 124: 4393-4404.
33. Pathi S, Pagan-Westphal S, Baker DP et al. Comparative biological responses to human Sonic, Indian, and Desert hedgehog. Mech Dev 2001: 106: 107-117.
34. Chiang C, Litingtung Y, Harris MP et al. Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function. Dev Biol 2001: 236: 421-435.
35. Kraus P, Fraidenraich D, Loomis CA. Some distal limb structures develop in mice lacking Sonic hedgehog signaling. Mech Dev 2001: 100: 45-58.
36. Ros MA, Dahn RD, Fernandez-Teran M et al. The chick oligozeugodactyly (ozd) mutant lacks sonic hedgehog function in the limb. Development 2003: 130: 527-537.
37. Chen H, Johnson RL. Dorsoventral patterning of the vertebrate limb: a process governed by multiple events. Cell Tissue Res 1999: 296: 67-73.
38. Logan C, Hornbruch A, Campbell I, Lumsden A. The role of Engrailed in establishing the dorsoventral axis of the chick limb. Development 1997: 124: 2317-2324.
39. Loomis CA, Kimmel RA, Tong CX, Michaud J, Joyner AL. Analysis of the genetic pathway leading to formation of ectopic apical ectodermal ridges in mouse Engrailed-1 mutant limbs. Development 1998: 125: 1137-1148.
40. Riddle RD, Ensini M, Nelson C, Tsuchida T, Jessell TM, Tabin C. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell 1995: 83: 631-640.
41. Laufer E, Nelson CE, Johnson RL, Morgan BA, Tabin C. Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud. Cell 1994: 79: 993-1003.
42. Niswander L, Jeffrey S, Martin G, Tickle C. A positive feedback loop coordinates growth and patterning in the limb. Nature 1994: 371: 609-612.
43. Zuñiga A, Haramis AP, McMahon AP, Zeller R. Signal relay by BMP antagonism controls the SHH/FGF4 feedback loop in vertebrate limb buds. Nature 1999: 401: 598-602.
44. Pizette S, Niswander L. BMPs negatively regulate structure and function of the limb apical ectodermal ridge. Development 1999: 126: 883-894.
45. Sordino P, van der Hoeven F, Duboule D. Hox gene expression in teleost fins and the origin of vertebrate digits. Nature 1995: 375: 678-681.
46. Zákány J, Duboule D. Hox genes in digit development and evolution. Cell Tissue Res 1999: 296: 19-25.
47. Macias D, Ganan Y, Rodriguez-Leon J, Merino R, Hurle JM. Regulation by members of the transforming growth factor beta superfamily of the digital and interdigital fates of the autopodial limb mesoderm. Cell Tissue Res 1999: 296: 95-102.
48. Merino R, Ganan Y, Macias D, Economides AN, Sampath KT, Hurle JM. Morphogenesis of digits in the avian limb is controlled by FGFs, TGFbetas, and noggin through BMP signaling. Dev Biol 1998: 200: 35-45.
49. Dahn RD, Fallon JF. Interdigital regulation of digit identity and homeotic transformation by modulated BMP signaling. Science 2000: 289: 438-441.
50. Suzuki T, Takeuchi J, Koshiba-Takeuchi K, Ogura T. Tbx genes specify posterior digit identity through Shh and BMP signaling. Dev Cell 2004: 6: 43-53.
51. Sanz-Ezquerro JJ, Tickle C. Fgf signaling controls the number of phalanges and tip formation in developing digits. Curr Biol 2003: 1830-1836.
52. Swanson AB. A classification for congenital limb malformations. J Hand Surg [Am] 976: 1: 8-22.
53. Buck-Gramcko D. Angeborene Fehlbildungen der Hand. In: Handchirurgie (Nigst H, Buck-Gramcko D, Milesi H, eds). Stuttgart: Thieme, 1998: 12.1-12.115.
54. Buck-Gramcko D. Congenital malformations of the hand and forearm. Chir Main 2002: 21: 70-101.
55. Kozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg 2003: 85A (8): 1564-1576.
56. Wassel HD. The results of surgery for polydactyly of the thumb. Clin Orthop 1969: 64: 175-193.
57. Wood VE. Polydactyly and the triphalangeal thumb. J Hand Surg [Am] 1978: 3: 436-444.
58. Tada K, Yonenobu K, Tsuyuguchi Y, Kawai H, Egawa T. Duplication of the thumb. A retrospective review of two hundred and thirty-seven cases. J Bone Joint Surg Am 1983: 65: 584-598.
59. Blauth W, Olason AT. Classification of polydactyly of the hands and feet. Arch Orthop Trauma Surg 1988: 107: 334-344.
60. Buck-Gramcko D, Behrens P. Klassifikation der Polydaktylie für Hand und Fuss. Handchir Mikrochir Plast Chir 1989: 21: 195-204.
61. Sun X, Mariani F, Martin G. Funtions of FGF signaling from the apical ectodermal ridge in limb development. Nature 2002: 418: 501-507.
62. Moon AM, Capecchi MR. Fgf8 is required for outgrowth and patterning of the limbs. Nat Genet 2000: 26: 455-459.
63. Lewandoski M, Sun X, Martin GR. Fgf8 signaling from the AER is essential for normal limb development. Nat Genet 2000: 26: 460-463.
64. Boulet AM, Moon AM, Arankiel BR, Capecchi MR. The roles of Fgf4 and Fgf8 in limb bud initiation and outgrowth. Dev Biol 2004: 273: 361-372.
65. Adamska M, MacDonald BT, Meisler MH. Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Dev Biol 2003: 255: 350-362.
66. Adamska M, MacDonald BT, Meisler MH. Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interaction with Lrp6. Development 2004: 131: 2543-2552.
67. Grotewold L, Ruther U. The Wnt antagonist Dickkopf-1 is regulated by Bmp signaling and c-Jun and modulates programmed cell death. EMBO J 2002: 21: 966-975.
68. Hajihosseini MK, Lalioti MD, Arthaud S et al. Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics. Development 2004: 131: 325-335.
69. Lobjois V, Benazeraf B, Bertrand N, Medevielle F, Pituello F. Specific regulation of cyclins D1 and D2 by FGF and Shh signaling coordinates cell cycle progression, patterning, and differentiation during early steps of spinal cord development. Dev Biol 2004: 273: 195-209.
70. Buscher D, Ruther U. Expression profile of Gli family members and Shh in normal and mutant mouse limb development. Dev Dyn 1998: 211: 88-96.
71. Schweitzer R, Vogan KJ, Tabin CJ. Similar expression and regulation of Gli2 and Gli3 in the chick limb bud. Mech Dev 2000: 98: 171-174.
72. J mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 1993: 3: 241-246.
73. Wang B, Fallon JF, Beachy PA. Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb. Cell 2000: 100: 423-434.
74. Takahashi M, Tamura K, Buscher D et al. The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development. Development 1998: 125: 4417-4425.
75. Qu S, Niswender KD, Ji Q et al. Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 1997: 124: 3999-4008.
76. Qu S, Tucker SC, Ehrlich JS et al. Mutations in mouse Aristaless-like 4 cause Strong's luxoid polydactyly. Development 1998: 125: 2711-2721.
77. Clark RM, Marker PC, Kingsley DM. A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limb of Hemimelic extra-toes mutant mice. Genomics 2000: 67: 19-27.
78. Sharpe J, Lettice L, Hecksher-Sorensen J, Fox M, Hill R, Krumlauf R. Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. Curr Biol 1999: 9: 97-100.
79. Lettice LA, Horikoshi T, Heaney SJ et al. Disruption of a long range cis-acting regulator for Shh causes prexial polydactyly. Proc Natl Acad Sci USA 2002: 99: 7548-7553.
80. Lettice LA, Heaney SJH, Purdie LA et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 2003: 12: 1725-1735.
81. Ianakiev P, van Baren MJ, Daly MJ et al. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet 2001: 68: 38-45.
82. Chan DC, Laufer E, Tabin C, Leder P. Polydactylous limbs in Strong's luxoid mice result from ectopic polarizing activity. Development 1995: 121: 1971-1978.
83. Masuya H, Sagai T, Wakana S, Moriwaki K, Shiroishi T. A duplicated zone of polarizing activity in polydactylous mouse mutans. Genes Dev 1995: 9: 1645-1653.
84. Lyon MF, Quinney R, Glenister PH, Kerscher S, Guillot P, Boyd Y. Doublefoot: a new mouse mutant affecting development of limbs and head. Genet Res 1996: 68: 221-231.
85. Yang Y, Guillot P, Boyd Y, Lyon MF, McMahon AP. Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling. Development 1998: 125: 3123-3132.
86. Litingtung Y, Dahn RD, Li Y, Fallon JF, Chiang C. Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. Nature 2002: 418: 979-983.
87. te Welscher P, Zuniga A, Kuijper S et al. Progression of vertebrate limb development through SH-mediated counteraction of GLI3. Science 2002: 298: 827-830.
88. Drossopoulou G, Lewis KE, Sanz-Ezquerro JJ et al. A model for anteroposterior patterning of vertebrate limb based on sequential long- and short-range Shh signaling and Bmp signaling. Development 2000: 127: 1337-1348.
89. Caruccio NC, Martinez-Lopez A, Harris M et al. Constitutive activation of Sonic hedgehog signaling in the chicken mutant talpid2: Shh-independent outgrowth and polarizing activity. Dev Biol 1999: 212: 137-149.
90. Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996: 272: 548-551.
91. Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 1996: 5: 945-952.
92. Goodman FR, Mundlos S, Muragaki Y et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci USA 1997: 94: 7458-7463.
93. Fernandez-Teran M, Piedra ME, Kathiriya IS, Srivastava D, Rodriguez-Rey JC, Ros MA. Role of dHand in the anterior-posterior polarization of the limb bud. implications for the Sonic hedgehog expression and establishment of the zone of polarizing activity during limb development. Development 2000: 127: 2133-2142.
94. Charite J, McFadden DG, Olson EN. The bHLH transcription factor dHand controls Sonic hedgehog expression and establishment of the zone of polarizing activity during limb development. Development 2000: 127: 2461-2470.
95. te Welscher P, Fernandez-Teran M, Ros MA, Zeller R. Mutual genetic antagonism involving GLI3 and dHand prepatterns the vertebrate limb bud mesenchyme prior to SHH signaling. Genes Dev 2002: 16: 421-426.
96. Knezevic V, De Santo R, Schughart K et al. Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in positive feedback loop. Development 1997: 124: 4523-4536.
97. Zákány J, Kmita M, Duboule D. A dual role for Hox genes in limb anterior-posterior asymmetry. Science 2004: 304: 1669-1672.
98. Kmita M, Fraudeau N, Hérault Y, Duboule D. Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs. Nature 2002: 420: 145-150.
99. Chen Y, Kenezevic V, Ervin V, Hutson R, Ward Y, Mackem S. Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh. Development 2004: 131: 2339-2347.
100. Biesecker LG. Polydactyly: how many disorders and how many genes? Am J Med Genet 2002: 112: 279-283.