Genetic regulation of embryological limb development with relation to congenital limb deformity in humans

Journal of Children's Orthopaedics

Volumn 2, Issue 1, 2008, Pages 1-9

  Barham, Guy ^a   Clarke, Nicholas M P ^a  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

Genetic regulation; Hoxgenes; Limb development; Limb patterning; Retinoic acid

Indexed keywords

EID: 38849097223     PISSN: 18632521     EISSN: 18632548     Source Type: Journal    
DOI: 10.1007/s11832-008-0076-2     Document Type: Review

References (34)

1. Rodriguez-Esteban C, Tsukui T, Yonei S, Magallon J, Tamura K, Izpisua Belmonte JC (1999) The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity. Nature 398:814-818
2. Takeuchi JK, Koshiba-Takeuchi K, Matsumoto K, Vogel-Hopker A, Naitoh-Matsuo M, Ogura K, Takahashi N, Yasuda K, Ogura T (1999) Tbx5 and Tbx4 genes determine the wing/leg identity of limb buds. Nature 398:810-814
3. Agarwal P, Wylie JN, Galceran J, Arkhitko O, Li C, Deng C, Grosschedl R, Bruneau BG (2003) Tbx5 is essential for forelimb bud initiation following patterning of the limb filed in the mouse embryo. Development 130:623-633
4. Rallis C, Bruneau BG, Del Buono J, Seidman CE, Seidman JG, Nissim S, Tabin CJ, Logan MP (2003) Tbx5 is required for forelimb bud formation and continued outgrowth. Development 130:2741-2751
5. Min H, Danilenko DM, Scully SA, Bolon B, Ring BD, Tarpley JE, DeRose M, Simonet WS (1998) Fgf-10 is required for both limb and lung development and exhibits striking functional similarity to Drosophila branchless. Genes Dev 12:3156-3161
6. Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD (1997) Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 15:21-29
7. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J et al (1997) Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15:30-35
8. Lanctot C, Moreau A, Chamberland M, Tremblay ML, Drouin J (1999) Hindlimb patterning and mandible development require the Ptx1 gene. Development 126:1805-1810
9. Summerbell D (1974) A quantitative ananlysis of effect of excision of the AER from the chick limb bud. J Embryol Exp Morphol 32:651-660
10. Tickle C (2003) Patterning systems - from one end of the limb to the other. Dev Cell 4:449-458
11. Vogel A, Rodriguez C, Izpisua-Belmonte JC (1996) Involvement of FGF-8 in initiation, outgrowth and patterning of the vertebrate limb. Development 122(6):1737-1750
12. Laufer E, Dahn R, Orozco OE, Yeo CY, Pisenti J, Henrique D, Abbott UK, Fallon JF, Tabin C (1997) Expression of Radical fringe in limb bud ectoderm regulates apical ectodermal ridge formation. Nature 386:366-373
13. Sadler T (1998) Embryology, gene regulation of limb development. In: Herring JA, Birch JG (1998) The child with a limb deficiency, The American Academy of Orthopaedic Surgeons
14. Goodman FR (2002) Limb malformations and the human HOX genes. Am J Med Genet 112:256-265
15. Charite J, de Graaff W, Shen S, Deschamps J (1994) Ectopic expression of Hoxb-8 causes duplication of the ZPA in the forelimb and homeotic transformation of axial structures. Cell 78:589-601
16. Scadding SR (1999) Citral, an inhibitor of retinoic acid synthesis, modifies pattern formation during limb regeneration in the axolotl Ambystoma mexicanum. Can J Zool 77:1835-1837
17. Riddle RD, Johnson RL, Laufer E, Tabin C (1993) Sonic hedgehog mediates the polarizing activity of the ZPA. Cell 75(7):1401-16
18. Summerbell D (1979) The zone of polarizing activity: Evidence for a role in normal chick limb morphogenesis. J Embryol Exp Morphol 50:217-233
19. Tickle C, Summerbell D, Wolpert L (1975) Positional signalling and specification of digits in chick limb morphogenesis. Nature 254:199-202
20. Zuniga A, Haramis AP, McMahon AP, Zeller R (1999) Signal relay by BMP antagonism controls the SHH/FGF4 feedback loop in vertebrate limb buds. Nature 401:598-602
21. Dealy CN, Roth A, Ferrari D, Brown AM, Kosher RA (1993) Wnt-5a and Wnt-7a are expressed in the developing chick limb bud in a manner suggesting roles in pattern formation along the proximodistal and dorsoventral axes. Mech Dev 43:175-186
22. Tickle C (2003) Patterning systems - from one end of the limb to the other. Dev Cell 4:449-458
23. Jena N, Martin-Seisdedos C, McCue P, Croce CM (1997) BMP7 null mutation in mice: Developmental defects in skeleton, kidney, and eye. Exp Cell Res 230:28-37
24. Zou H, Niswander L (1996) Requirement for BMP signaling in interdigital apoptosis and scale formation. Science 272:738-741
25. Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee SJ (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily. Nature 368:639-643
26. Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC (2002) Frameshift mutation in the cartilagederived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet 111:31-37
27. Weston AD, Hoffman LM, Underhill TM (2003) Revisiting the role of retinoid signaling in skeletal development. Birth Defects Res C Embryo Today Rev 69:156-173
28. Foster JW (1996) Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia. Acta Paediatr Japn 38(4):405-411
29. Akiyama H, Chaboissier MC, Martin JF, Schedl A, de Crombrugghe B (2002) The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev 16(21):2813-2828
30. Mundlos S (1999) Cleidocranial dysplasia: Clinical and molecular genetics. J Med Genet 36(3):177-182
31. Kochhar DM (1973) Limb development in mouse embryos. I. Analysis of teratogenic effects of retinoic acid. Teratology 7(3):289-298
32. Rizzo R, Lammer EJ, Parano E, Pavone L, Argyle JC (1991) Limb reduction defects in humans associated with prenatal isotretinoin exposure. Teratology 44(6):599-604
33. Mohanty-Hejmadi P, Dutta SK, Mahapatra P (1992) Limbs generated at site of tail amputation in marbled balloon frog after vitamin A treatment. Nature 355(6358):352-353
34. Logan M (2003) Finger or toe: The molecular basis of limb identity. Development 130(26):6401-6410