Two rights make a wrong: Human left-right malformations

Human Molecular Genetics

Volumn 7, Issue 10, 1998, Pages 1565-1571

  Casey, Brett ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CHICKEN; CONGENITAL MALFORMATION; EMBRYO PATTERN FORMATION; FROG; GENE ISOLATION; GENE MAPPING; HUMAN; IMMOTILE CILIA SYNDROME; KARTAGENER SYNDROME; MOLECULAR CLONING; PATHOLOGICAL ANATOMY; PRIORITY JOURNAL; REVIEW; SITUS INVERSUS; X CHROMATIN; X CHROMOSOME LINKAGE;

ABNORMALITIES; ANIMALS; BODY PATTERNING; CILIARY MOTILITY DISORDERS; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; KARTAGENER SYNDROME; MALE; MICE; MOLECULAR BIOLOGY; PEDIGREE; PHENOTYPE; SITUS INVERSUS; TERMINOLOGY; X CHROMOSOME;

ANURA; GALLUS GALLUS; VERTEBRATA;

EID: 0031689323     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.10.1565     Document Type: Review

References (83)

1. Afzelius, B. and Mossberg, B. (1995) The metabolic and molecular basis of inherited disease. In Scriver, C., Beaudet, A., Sly, W. and Valle, D. (eds), Immotile-Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome. McGraw-Hill, New York, NY, Vol. 3, pp. 3943-3954.
2. Schidlow, D., Katz, S., Tut, Z.M., Donner, R. and Capasso, S. (1982) Polysplenia and Kartagener syndrome in 2 sibships: association with abnormal respiratory cilia. J. Pediat., 100, 401-403.
3. Teichberg, S., Markowitz, J., Silverberg, M., Aiges, H., Schneider, K., Kahn, E. and Daum, F. (1982) Abnormal cilia in a child with the polysplenia syndrome and extrahepatic biliary atresia. J. Pediat., 100, 399-401.
4. Gershoni-Baruch, R., Gottfried, E., Pery, M., Sahin, A. and Etzioni, A. (1989) Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia. Am. J. Med. Genet., 33, 390-393.
5. Engesaeth, V.G., Warner, J.O. and Bush, A. (1993) New associations of primary ciliary dyskinesia syndrome. Pediat. Pulmonol., 16, 9-12.
6. Ferencz, C., Loffredo, C., Correa-Villasenor, A. and Wilson, P. (1997) Genetic and Environmental Risk Factors of Major Cardiovascular Malformations: The Baltimore-Washington Infant Study 1981-1989. Futura, Armonk, NY.
7. Chang, J., Brueckner, M. and Touloukian, R.J. (1993) Intestinal rotation and fixation abnormalities in heterotaxia: early detection and management. J. Pediat. Surg., 28, 1281-1284; discussion, 1285.
8. Bass, K.D., Rothenberg, S.S. and Chang, J.H. (1998) Laparoscopic Ladd's procedure in infants with malrotation. J. Pediat. Surg., 33, 279-281.
9. Phoon, C.K. and Neill, C.A. (1994) Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies. Am. J. Cardiol., 73, 581-587.
10. Mital, O.P., Prasad, R. and Rao, M.S. (1974) Situs inversus (totalis) among two brothers: a case report. Ind. J. Chest Dis., 16, 188-190.
11. Chib, P., Grover, D.N. and Shahi, B.N. (1977) Unusual occurrence of dextiocardia with situs inversus in succeeding generations of a family. J. Med. Genet., 14, 30-32.
12. Cockayne, E.A. (1938) The genetics of transposition of the viscera. Quart. J. Med., 7, 479-493.
13. Corcos, A.P., Tzivoni, D. and Medina, A. (1989) Long QT syndrome and complete situs inversus. Preliminary report of a family. Cardiology, 76, 228-233.
14. Niikawa, N., Kohsaka, S., Mizumoto, M., Hamada, I. and Kajii, T. (1983) Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. Am. J. Med. Genet., 16, 43-47.
15. Casey, B., Cuneo, B.F., Vitali, C., van Hecke, H., Barrish, J., Hicks, J., Ballabio, A. and Hoo, J.J. (1996) Autosomal dominant transmission of familial laterality defects. Am. J. Med. Genet., 61, 325-328.
16. Alonso, S., Pierpont, M.E., Radtke, W., Martinez, J., Chen, S.C., Grant, J.W., Dahnert, I., Taviaux, S., Romey, M.C., Demaille, J. et al. (1995) Heterotaxia syndrome and autosomal dominant inheritance. Am. J. Med. Genet., 56, 12-15.
17. Silver, W., Steier, M. and Chandra, N. (1972) Asplenia syndrome with congenital heart disease and tetralogy of Fallot in siblings. Am. J. Cardiol., 30, 91-94.
18. Katcher, A.L. (1980) Familial asplenia, other malformations, and sudden death. Pediatrics, 65, 633-635.
19. Burn, J. (1991) Disturbance of morphological laterality in humans. Ciba Foundn Symp., 162, 282-296; discussion, 296-299.
20. Devriendt, K., Casaer, A., Van Cauter, A., de Zegher, F. Dumoulin, M., Gewillig, M. and Devlieger, H. (1994) Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings. Eur. J. Pediat., 153, 712-714.
21. Levin, M. (1998) Left-right asymmetry and the chick embryo. Semin. Cell Dev. Biol., 9, 67-76.
22. Yost, H.J. (1998) Left-right development in Xenopus and zebrafish. Semin. Cell Dev. Biol., 9, 61-66.
23. Supp, D.M., Brueckner, M. and Potter, S.S. (1998) Handed asymmetry in the mouse: understanding how things go right (or left) by studying how they go wrong. Semin. Cell Dev. Biol., 9, 77-87.
24. Hyatt, B.A., Lohr, J.L. and Yost, H.J. (1996) Initiation of vertebrate left-right axis formation by maternal Vg1. Nature, 384, 62-65.
25. Hyatt, B.A. and Yost, H.J. (1998) The left-right coordinator: the role of Vg1 in organizing left-right axis formation. Cell, 93, 37-46.
26. Levin, M., Johnson, R.L., Stern, C.D., Kuehn, M. and Tabin, C. (1995) A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell, 82, 803-814.
27. Lowe, L.A., Supp, D.M., Sampath, K., Yokoyama, T., Wright, C.V., Potter, S.S., Overbeek, P. and Kuehn, M.R. (1996) Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. Nature, 381, 158-161.
28. Collignon, J., Varlet, I. and Robertson, E.J. (1996) Relationship between asymmetric nodal expression and the direction of embryonic turning. Nature, 381, 155-158.
29. Sampath, K., Cheng, A., Frisch, A. and Wright, C. (1997) Functional differences among Xenopus nodal-related genes in left-right axis determination. Development, 124, 3293-3302.
30. Levin, M., Pagan, S., Roberts, D.J., Cooke, J., Kuehn, M.R. and Tabin, C.J. (1997) Left/right patterning signals and the independent regulation of different aspects of situs in the chick embryo. Dev. Biol., 189, 57-67.
31. Ekker, S., Lai, L., Lee, J., von Kessler, D., Moon, R. and Beachy, P. (1995) Distinct expression and shared activities of members of the hedgehog gene family of Xenopus laevis. Development, 121, 2337-2347.
32. Hemmati-Brivanlou, A., Wright, D. and Melton, D. (1992) Embryonic expression and functional analysis of a Xenopus activin receptor. Dev. Dyn., 194, 1-11.
33. Kondo, M., Semba, K., Shiokawa, K. and Yamamoto, T. (1996) Molecular cloning of Xenopus activin type 1 receptor and the analysis of its expression during embryogenesis. Biochem. Biophys. Res. Commun., 218, 549-555.
34. Feijen, A., Goumans, M. and van den Eijnden-van Raaij, A. (1994) Expression of activin subunits, activin receptors and folistatin in post-implantation mouse embryos suggests specific developmental functions for different activins. Development, 120, 3621-3637.
35. Ang, S.-L. and Rossant, J. (1994) HNF-3β is essential for node and notochord formation in mouse development. Cell. 78, 561-574.
36. Meno, C., Saijoh, Y., Fujii, H., Ikeda, M., Yokoyama, T., Yokoyama, M., Toyoda, Y. and Hamada, H. (1996) Left-right asymmetric expression of the TGF β-family member lefty in mouse embryos. Nature, 381, 151-155.
37. Meno, C., Ito, Y., Matsuda, Y., Tashiro, K., Kuhara, S. and Hamada, H. (1997) Two closely-related left-right asymmetrically expressed genes, lefty-1 and lefty-2: their distinct expression domains, chromosomal linkage and direct neuralizing activity in Xenopus embryos. Genes Cells, 2, 513-524.
38. Oh, S.P. and Li, E. (1997) The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. Genes Dev., 11, 1812-1826.
39. Layton, W.M. Jr (1976) Random determination of a developmental process: reversal of normal visceral asymmetry in the mouse. J. Hered., 67, 336-338.
40. Supp, D.M., Witte, D.P., Potter, S.S. and Brueckner, M. (1997) Mutation of an axonemal dynein in the left-right asymmetry mouse mutant inversus viscerum. Nature, 389, 963-966.
41. Levin, M. and Mercola, M. (1998) The compulsion of chirality: toward an understanding of left-right asymmetry. Genes Dev., 12, 763-769.
42. Yokoyama, T., Copeland, N.G., Jenkins, N.A., Montgomery, C.A., Elder, F.F.B. and Overbeek, P.A. (1993) Reversal of left-right asymmetry: a situs inversus mutation. Science, 260, 679-682.
43. Genuardi, M., Gurrieri, F. and Neri, G. (1994) Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. Am. J. Med. Genet., 50, 101.
44. Koiffmann, C.P., Wajntal, A., de Souza, D.H., Gonzalez, C.H. and Coates, M.V. (1993) Human situs determination and chromosome constitution 46, XY, ins(7;8)(q22;q12q24). Am. J. Med. Genet., 47, 568-569.
45. Fukushima, Y., Ohashi, H., Wakui, K., Fujiwara, M., Nakamura, Y. and Ogawa, K. (1993) Polysplenia syndrome and paracentric inversion of chromosome 11 [46, XX, inv(11)(q13q25)]. Am. J. Hum. Genet., 53 (suppl.), abstract 1543.
46. Freeman, S.B., Muralidharan, K., Pettay, D., Blackston, R.D. and May, K.M. (1996) Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46, XX, t(11;20)(q13.1;q13.13)]. Am. J. Med. Genet., 61, 340-344.
47. Wilson, G.N., Stout, J.P., Schneider, N.R., Zneimer, S.M. and Gilstrap, L.C. (1991) Balanced translocation 12/13 and situs abnormalities: homology of early pattern formation in man and lower organisms? Am. J. Med. Genet., 38, 601-607.
48. Kato, R., Yamada, Y. and Niikawa, N. (1996) De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia. Am. J. Med. Genet., 66, 184-186.
49. Carmi, R., Boughman, J.A. and Rosenbaum, K.R. (1992) Human situs determination is probably controlled by several different genes. Am. J. Med. Genet., 44, 246-249.
50. Pan, Y., McCaskill, C., Hegmann, K., Hicks, J., Casey, B., Shaffe, R.L. and Craigen, W. (1998) Paternal uniparental disomy for chromosome 7 associated with complete situs inversus and immotile cilia, Am. J. Hum. Genet., 62, 1551-1555.
51. Casey, B., Devoto, M., Jones, K.L. and Ballabio, A. (1993) Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nature Genet., 5, 403-407.
52. Ferrero, G.B., Gebbia, M., Pilia, G., Witte, D., Peier, A., Hopkin, R.J., Craigen, W.J., Shaffer, L.G., Schlessinger, D., Ballabio, A. and Casey, B. (1996) A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am. J. Hum. Genet., 61, 295-401.
53. Gebbia, M., Ferrero, G.B., Pilia, G., Bassi, M.T., Alysworth, A.S., Penman-Splitt, M., Bird, L.M., Bamforth, J.S., Burn, J., Schlessinger, D., Nelson, D.L. and Casey, B. (1997) X-linked situs abnormalities result from mutations in ZIC3. Nature Genet., 17, 305-308.
54. Aruga, J., Yokota, N., Hashimoto, M., Furuichi, T., Fukuda, M. and Mikoshiba, K. (1994) A novel zinc finger protein, Zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells. J. Neurosci., 63, 1880-1890.
55. Aruga, J., Nagai, T., Toduyama, T., Hayashizaki, Y., Okazaki, Y., Chapman, M.M. and Mikoshiba, K. (1996) The mouse Zic gene family. J. Biol. Chem., 271, 1043-1047.
56. Aruga, J., Yozu, A., Hayashizaki, Y., Okazaki, Y., Chapman, M.M. and Mikoshiba, K. (1996) Identification and characterization of Zic4, a new member of the mouse Zic gene family. Gene, 172, 291-294.
57. Bilder, D., Graba, Y. and Scott, M. (1998) Wnt and TGFβ signals subdivide the AbdA Hox domain during Drosophila mesoderm patterning. Development, 125, 1781-1790.
58. Benedyk, M., Mullen, J. and DiNardo, S. (1994) odd-paired: a zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos. Genes Dev., 8, 105-117.
59. Ruiz i Altaba, A. (1997) Catching a Gli-mpse of hedgehog. Cell, 90, 193-196.
60. Nascone, N. and Mercola, M. (1997) Organizer induction determines left-right asymmetry in Xenopus. Development, 189, 68-78.
61. Haegel, H., Larue, L., Ohsugi, M., Fedorov, L., Herrenknecht, K. and Kemler, R. (1995) Lack of beta-catenin affects mouse development at gastrulation. Development, 121, 3529-3537.
62. Schmidt, C., Bladt, F., Goedecke, S., Brinkmann, V., Zxchiesche, W., Sharpe, M., Gherardi, E. and Birchmeier, C. (1995) Scatter factor/hepatocyte growth factor is essential for liver development. Nature, 373, 699-702.
63. Uehara., Y., Minowa, O., Mori, C., Shiota, K., Kuno, J., Noda, T. and Kitamura, N. (1995) Placental defect and embryonic lethality in mice lacking hepatocyte growth factor/scatter factor. Nature, 373, 702-705.
64. Levin, M., Johnson, R.L., Stern, C.D., Kuehn, M. and Tabin, C. (1995) A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell, 82, 803-814.
65. Chen, J.-N., van Eeden, F., Warren, K., Chin, A., Nusslein-Volhard, C., Haffter, P. and Fishman, M. (1997) Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish. Development, 124, 4373-4382.
66. Pagan-Westphal, S. and Tabin, C. (1998) The transfer of left-right positional information during chick embryogenesis. Cell, 93, 25-35.
67. Goodrich, L. V., Milenkovic, L., Higgins, K.M. and Scott, M.P. (1997) Altered neural cell fates and medulloblastoma in mouse patched mutants. Science, 277, 1109-1113.
68. Lohr, J., Danos, M. and Yost, H. (1997) Left-right asymmetry of a nodal-related gene is regulated by dorsoanterior midline structures during Xenopus development. Development, 124, 1465-1472.
69. Sampath, K., Cheng, A., Frisch, A. and Wright, C. (1997) Functional differences among Xenopus nodal-related genes in left-right axis determination. Development, 124, 3293-3302.
70. Isaac, A., Sargent, M. and Cooke, J. (1997) Control of vertebrate left-right asymmetry by a snail-related zinc finger gene. Science, 275, 1301-1304.
71. Biben, C. and Harvey, R.P. (1997) Homeodomain factor Nkx2.5 controls left-right asymmetric expression of bHLH gene eHand during murine heart development. Genes Dev., 11, 1357-1369.
72. Riley, P., Anson-Cartwright, L. and Cross, J.C. (1998) The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis. Nature Genet., 18, 271-275.
73. Firulli, A.B., McFadden, D.G., Lin, Q., Srivastava, D. and Olson, E.N. (1998) Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1. Nature Genet., 18, 266-270.
74. Tsuda, T., Philp, N., Zile, M.H. and Linask, K.K. (1996) Left-right asymmetric localization of flectin in the extracellular matrix during heart looping. Dev. Biol., 173, 39-50.
75. Smith, S.M., Dickman, E.D., Thompson, R.P., Sinning, A.R., Wunsch, A.M. and Markwald, R.R. (1997) Retinoic acid directs cardiac laterality and the expression of early markers of precardiac asymmetry. Dev. Biol., 182, 162-171.
76. Winnier, G., Blessing, M., Labosky, P.A. and Hogan, B.L.M. (1995) Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. Genes Dev., 9, 2105-2116.
77. Searle, A. (1964) The genetics and morphology of two 'luxoid' mutants in the house mouse. Genet. Res., 5, 171-197.
78. Green, M. (1967) A defect of the splanchnic mesoderm caused by the mutant gene dominant hemimelia in the mouse. Dev. Biol., 15, 62-89.
79. van der Hoeven, F., Schimmang, T., Volkmann, A., Mattei, M.-G., Kyewski, B. and Ruther, U. (1994) Programmed cell death is affected in the novel mouse mutant fused toes (Ft). Development, 120, 2601-2607.
80. Lesche, R., Peetz, A., van der Hoeven, F. and Ruther, U. (1997) Ftl, a novel gene related to ubiquitin-conjugating enzymes, is deleted in the Fused toes mouse mutation. Mamm. Genome, 8, 879-883.
81. Heymer, J., Kuehn, M. and Ruther, U. (1997) The expression pattern of nodal and lefty in the mouse mutant Ft suggests a function in the establishment of handedness, Mech. Dev., 66, 5-11.
82. Singh, G., Supp, D.M., Schreiner, C., McNeish, J., Merker, H.J., Copeland, N.G., Jenkins, N.A., Potter, S.S. and Scott, W. (1991) legless insertional mutation: morphological, molecular, and genetic characterization. Genes Dev., 5, 2245-2255.
83. Metzler, M., Gertz, A., Sarkar, M., Schachter, H., Schrader, J.W. and Marth, J.D. (1994) Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development. EMBO J., 13, 2056-2065.