Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum

Molecular and Cellular Biology

Volumn 25, Issue 12, 2005, Pages 5073-5083

  Pizard, Anne ^a,b   Burgon, Patrick G ^a,b   Paul, David L ^c   Bruneau, Benoit G ^d,e   Seidman, Christine E ^a,b   Seidman, J G ^a,c  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 40; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX9; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE GROWTH; CHONDROGENESIS; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EMBRYO PATTERN FORMATION; FINGER; GAP JUNCTION; GENE CONTROL; HOLT ORAM SYNDROME; LIMB DEVELOPMENT; MOUSE; NONHUMAN; NULL ALLELE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN TARGETING; SKELETON MALFORMATION; SPINE; STERNUM; WRIST;

ANIMALS; ANIMALS, NEWBORN; BODY PATTERNING; CARPAL BONES; CONNEXINS; FORELIMB; HUMANS; IN SITU HYBRIDIZATION; MICE; MICE, KNOCKOUT; MORPHOGENESIS; MUSCULOSKELETAL ABNORMALITIES; PHENOTYPE; STERNUM; T-BOX DOMAIN PROTEINS;

EID: 20344377885     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.25.12.5073-5083.2005     Document Type: Article

References (49)

1. Agarwal, P., J. N, Wylie, J. Galceran, O. Arkhitko, C. Li, C. Deng, R. Grosschedl, and B. G. Bruneau. 2003. Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo. Development 130:623-633.
2. Akiyama, H., M. C. Chaboissier, J. F. Martin, A. Schedl, and B. de Crombrugghe. 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. 16:2813-2828.
3. Ausubel, F., R. Brent, R. E. Kingston, D. D. Moore, J. G. Seidman, J. A. Smith, and K. Struhl. (ed.). 2004. Current protocols in molecular biology. John Wiley & Sons, Inc., New York, N.Y.
4. Baitner, A. C., S. G. Maurer, M. B. Gruen, and P. E. Di Cesare. 2000. The genetic basis of the osteochondrodysplasias. J. Pediatr. Orthop. 20:594-605.
5. Bamshad, M., R. C. Lin, D. J. Law, W. C. Watkins, P. A. Krakowiak, M. E. Moore, P. Franceschini, R. Lala, L. B. Holmes, T. C. Gebuhr, B. G. Bruneau, A. Schinzel, J. G. Seidman, C. E. Seidman, and L. B. Jorde. 1997. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat. Genet. 16:311-315. [Erratum, 19(1):102, 1998.]
6. Basson, C. T., D. R. Bachinsky, R. C. Lin, T. Levi, J. A. Elkins, J. Soults, D. Grayzel, E. Kroumpouzou, T. A. Traill, J. Leblanc-Straceski, B. Renault, R. Kucherlapati, J. G. Seidman, and C. E. Seidman. 1997. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15:30-35.
7. Basson, C. T., G. S. Cowley, S. D. Solomon, B. Weissman, A. K. Poznanski, T. A. Traill, J. G. Seidman, and C. E. Seidman. 1994. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N. Engl. J. Med. 330:885-891.
8. Basson, C. T., T. Huang, R. C. Lin, D. R. Bachinsky, S. Weremowicz, A. Vaglio, R. Bruzzone, R. Quadrelli, M. Lerone, G. Romeo, M. Silengo, A. Pereira, J. Krieger, S. F. Mesquita, M. Kamisago, C. C. Morton, M. E. Pierpont, C. W. Muller, J. G. Seidman, and C. E. Seidman. 1999. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc. Natl. Acad. Sci. USA 96:2919-2924.
9. Bongers, E. M., P. H. Duijf, S. E. van Beersum, J. Schoots, A. Van Kampen, A. Burckhardt, B. C. Hamel, F. Losan, L. H. Hoefsloot, H. G. Yntema, N. V. Knoers, and H. van Bokhoven. 2004. Mutations in the human TBX4 gene cause small patella syndrome. Am. J. Hum. Genet. 74:1239-1248.
10. Borke, J. L., J. R. Chen, J. C. Yu, R. J. Bollag, M. F. Orellana, and C. M. Isales. 2003. Negative transcriptional regulation of connexin 43 by Tbx2 in rat immature coronal sutures and ROS 17/2.8 cells in culture. Cleft Palate Craniofac. J. 40:284-290.
11. Borke, J. L., J. C. Yu, C. M. Isales, N. Wagle, N. N. Do, J. R. Chen, and R. J. Bollag. 2003. Tension-induced reduction in connexin 43 expression in cranial sutures is linked to transcriptional regulation by TBX2. Ann. Plast. Surg. 51:499-504.
12. Braybrook, C., K. Doudney, A. C. Marcano, A. Arnason, A. Bjornsson, M. A. Patton, P. J. Goodfellow, G. E. Moore, and P. Stanier. 2001. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat. Genet. 29:179-183.
13. Bruneau, B. G., G. Nemer, J. P. Schmitt, F. Charron, L. Robitaille, S. Caron, D. A. Conner, M. Gessler, M. Nemer, C. E. Seidman, and J. G. Seidman. 2001. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106:709-721.
14. Cheng, B., S. Zhao, J. Luo, E. Sprague, L. F. Bonewald, and J. X. Jiang. 2001. Expression of functional gap junctions and regulation by fluid flow in osteocyte-like MLO-Y4 cells. J. Bone Miner. Res. 16:249-259.
15. Davenport, T. G., L. A. Jerome-Majewska, and V. E. Papaioannou. 2003. Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. Development 130:2263-2273.
16. Elek, C., M. Vitez, and E. Czeizel. 1991. Holt-Oram syndrome. Orv. Hetil. 132:73-74, 77-78.
17. Engstrand, T. 2003. Molecular biologic aspects of cartilage and bone: potential clinical applications. Uppsala J. Med. Sci. 108:25-35.
18. Evans, W. H., and P. E. Martin. 2002. Gap junctions: structure and function. Mol. Membr. Biol. 19:121-136.
19. Ferrari, D., and R. A. Kosher. 2002. Dlx5 is a positive regulator of chondrocyte differentiation during endochondral ossification. Dev. Biol. 252:257-270.
20. Figueroa, X. F., D. L. Paul, A. M. Simon, D. A Goodenough, K. H. Day, D. N. Damon, and B. R. Duling. 2003. Central role of connexin40 in the propagation of electrically activated vasodilation in mouse cremasteric arterioles in vivo. Circ. Res. 92:793-800.
21. Gibson-Brown, J. J., S. I. Agulnik, L. M. Silver, L. Niswander, and V. E. Papaioannou. 1998. Involvement of T-box genes Tbx2-Tbx5 in vertebrate limb specification and development. Development 125:2499-2509.
22. Hoffmann, A., and G. Gross. 2001. BMP signaling pathways in cartilage and bone formation. Crit. Rev. Eukaryot. Gene Expr. 11:23-45.
23. Holt, M., and S. Oram. 1960. Familial heart disease with skeletal malformations. Br. Heart J. 22:236-242.
24. Katagiri, T., S. Boorla, J. L. Frendo, B. L. Hogan, and G. Karsenty. 1998. Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. Dev. Genet. 22:340-348.
25. Kaufman, M. H., and J. B. L. Bard. 1999. The anatomical basis of mouse development. Academic Press, San Diego, Calif.
26. Kist, R., H. Schrewe, R. Balling, and G. Scherer. 2002. Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. Genesis 32:121-123.
27. Kumai, M., K. Nlshii, K. Nakamura, N. Takeda, M. Suzuki, and Y. Shibata. 2000. Loss of connexin45 causes a cushion defect in early cardiogenesis. Development 127:3501-3512.
28. Lecanda, F., P. M. Warlow, S. Sheikh, F. Furlan, T. H. Steinberg, and R. Civitelli. 2000. Connexin43 deficiency causes delayed ossification, craniofacial abnormalities, and osteoblast dysfunction. J. Cell Biol. 151:931-944.
29. Li, Q. Y., R. A. Newbury-Ecob, J. A. Terrett, D. I. Wilson, A. R. Curtis, C. H. Yi, T. Gebuhr, P. J. Bullen, S. C. Robson, T. Strachan, D. Bonnet, S. Lyonnet, I. D. Young, J. A. Raeburn, A. J. Buckler, D. J. Law, and J. D. Brook. 1997. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet. 15:21-29.
30. Liao, J., L. Kochilas, S. Nowotschin, J. S. Arnold, V. S. Aggarwal, J. A. Epstein, M. C. Brown, J. Adams, and B. E. Morrow. 2004. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum. Mol. Genet. 13:1577-1585.
31. Logan, M., H. G. Simon, and C. Tabin. 1998. Differential regulation of T-box and homeobox transcription factors suggests roles in controlling chick limb-type identity. Development 125:2825-2835.
32. Makarenkova, H., and K. Patel. 1999. Gap junction signalling mediated through connexin-43 is required for chick limb development. Dev. Biol. 207:380-392.
33. McGonnell, I. M., C. R. Green, C. Tickle, and D. L. Becker. 2001. Connexin43 gap junction protein plays an essential role in morphogenesis of the embryonic chick face. Dev. Dyn. 222:420-438.
34. Minkoff, R., V. K. Rundus, S. B. Parker, E. L. Hertzberg, J. G. Laing, and E. C. Beyer. 1994. Gap junction proteins exhibit early and specific expression during intramerabranous bone formation in the developing chick mandible. Anat. Embryol. 190:231-241.
35. Packham, E. A., and J. D. Brook. 2003. T-box genes in human disorders. Hum. Mol. Genet. 12(Spec. No. 1):R37-R44.
36. Paznekas, W. A., S. A. Boyadjiev, R. E. Shapiro, O. Daniels, B. Wollnik, C. E. Keegan, J. W. Innis, M. B. Dinulos, C. Christian, M. C. Hannibal, and E. W. Jabs. 2003. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am. J. Hum. Genet. 72:408-418.
37. Poznanski, A. K., J. C. Gall, Jr., and A. M. Stern. 1970. Skeletal manifestations of the Holt-Oram syndrome. Radiology 94:45-53.
38. Rallis, C., B. G. Bruneau, J. Del Buono, C. E. Seidman, J. G. Seidman, S. Nissim, C. J. Tabin, and M. P. Logan. 2003. Tbx5 is required for forelimb bud formation and continued outgrowth. Development 130:2741-2751.
39. Rodriguez-Esteban, C., T. Tsukui, S. Yonei, J. Magallon, K. Tamura, and J. C. Izpisua Belmonte. 1999. The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity. Nature 398:814-818.
40. Shum, L., C. M. Coleman, Y. Hatakeyama, and R. S. Tuan. 2003. Morphogenesis and dysmorphogenesis of the appendicular skeleton. Birth Defects Res. C Embryo Today 69:102-122.
41. Sibony, M., F. Commo, P. Callard, and J. M. Gasc. 1995. Enhancement of mRNA in situ hybridization signal by microwave heating. Lab. Investig. 73:586-591.
42. Simon, A. M., D. A. Goodenough, and D. L. Paul. 1998. Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block. Curr. Biol. 8:295-298.
43. Simons, E. V., and J. R. van Horn. 1971. A new procedure for whole-mount alcian blue staining of the cartilaginous skeleton of chicken embryos, adapted to the clearing procedure in potassium hydroxide. Acta Morphol. Neerl.-Scand. 8:281-292.
44. Storm, E. E., and D. M. Kingsley. 1999. GDF5 coordinates bone and joint formation during digit development. Dev. Biol. 209:11-27.
45. Willecke, K., J. Eiberger, J. Degen, D. Eckardt, A. Romualdi, M. Guldenagel, U. Deutsch, and G. Sohl. 2002. Structural and functional diversity of connexin genes in the mouse and human genome. Biol. Chem. 383:725-737.
46. Wollnik, B., H. Kayserili, O. Uyguner, T. Tukel, and M. Yuksel-Apak. 2002. Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. Arm. Genet. 45:213-217.
47. Wright, E., M. R. Hargrave, J. Christiansen, L. Cooper, J. Run, T. Evans, U. Gangadharan, A. Greenfield, and P. Koopman. 1995. The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Nat. Genet. 9:15-20.
48. Zelzer, E., D. J. Glotzer, C. Hartmann, D. Thomas, N. Fukai, S. Soker, and B. R. Olsen. 2001. Tissue specific regulation of VEGF expression during bone development requires Cbfa1/Runx2. Mech. Dev. 106:97-106.
49. Zhao, G. Q. 2003. Consequences of knocking out BMP signaling in the mouse. Genesis 35:43-56.