Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development

International Journal of Developmental Biology

Volumn 46, Issue 4 SPEC., 2002, Pages 441-448

  Richman, Joy M ^a   Fu, Katherine K ^a   Cox, Liza L ^b   Sibbons, Jane P ^b   Cox, Timothy C ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Mesoderm; MF 20; Mid1; Opitz GBBB syndrome; Sox10

Indexed keywords

BIOLOGICAL MARKER; COMPLEMENTARY DNA; MICROTUBULE ASSOCIATED PROTEIN; PROTEIN MID1; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; HIGH MOBILITY GROUP PROTEIN; LIGASE; MICROTUBULE PROTEIN; MID1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SOX-10 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX10;

ANIMAL TISSUE; ARTICLE; CELL MIGRATION; CELL PROLIFERATION; CHICKEN; CONTROLLED STUDY; CORRELATION ANALYSIS; DEVELOPMENTAL BIOLOGY; DEVELOPMENTAL STAGE; DIENCEPHALON; EMBRYO; EMBRYO DEVELOPMENT; EPITHELIUM; ESOPHAGUS; FACE; FOREBRAIN; GENE EXPRESSION; GENE FUNCTION; GENE ISOLATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HEAD; HUMAN VERSUS ANIMAL COMPARISON; LEG MUSCLE; MESENCHYME; MESODERM; MIDGUT; MOLECULAR CLONING; MOLECULAR EVOLUTION; MOLECULAR INTERACTION; MORPHOGENESIS; MYOTOME; NEURAL CREST; NEURAL CREST CELL; NEUROMERE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPITZ SYNDROME; ORTHOLOGY; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; SOMITE; TISSUE DISTRIBUTION; TRACHEA; VERTEBRATE; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHICK EMBRYO; CYTOLOGY; GENE EXPRESSION REGULATION; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; METABOLISM; MOLECULAR GENETICS; MOUSE; PHENOTYPE; PHYSIOLOGY; RAT; SEQUENCE HOMOLOGY; TIME;

ANIMALIA; GALLUS GALLUS; VERTEBRATA;

AMINO ACID SEQUENCE; ANIMALS; CHICK EMBRYO; CLONING, MOLECULAR; CONSERVED SEQUENCE; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HIGH MOBILITY GROUP PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIGASES; MESODERM; MICE; MICROTUBULE PROTEINS; MOLECULAR SEQUENCE DATA; NEURAL CREST; NUCLEAR PROTEINS; PHENOTYPE; PROSENCEPHALON; RATS; SEQUENCE HOMOLOGY, AMINO ACID; TIME FACTORS; TRANSCRIPTION FACTORS;

EID: 0036371117     PISSN: 02146282     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. BADER, D., MASAKI, T. and FISCHMAN, D.A. (1982). Immunochemical analysis of myosin heavy chain during avian myogenesis in vivo and in vitro. J. Cell. Biol. 95: 763-770.
2. CAINARCA, S., MESSALI, S., BALLABIO, A. and MERONI, G. (1999). Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum. Mol. Genet. 8: 1387-1896.
3. CHENG, Y., CHEUNG, M., ABU-ELMAGD, M.M., ORME, A. and SCOTTING, P.J. (2000). Chick sox10, a transcription factor expressed in both early neural crest cells and central nervous system. Dev. Brain Res. 121: 233-241.
4. COX, T.C., ALLEN, L.R., COX, L.L., HOPWOOD, B., GOODWIN, B., HAAN, E. and SUTHERS, G.K. (2000). New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum. Mol. Genet. 9: 2553-2562.
5. DAL ZOTTO, L., QUADERI, N.A., ELLIOTT, R., LINGERFELTER, P.A., CARREL, L., VALSECCHI, V., MONTINI, E., YEN, C.H., CHAPMAN, V., KALCHEVA, I., ARRIGO, G., ZUFFARDI, O., THOMAS, S., WILLARD, H.F., BALLABIO, A., DISTECHE, C.M. and RUGARLI, E.I. (1998). The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum. Mol. Genet. 7: 489-499.
6. FRYBURG, J.S., LIN, K.Y. and GOLDEN, W.L. (1996). Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am. J. Med. Genet. 62: 274-275.
7. GAUDENZ, K., ROESSLER, E., QUADERI, N., FRANCO, B., FELDMAN, G., GASSER, D.L., WITTWER, B., HORST, J., MONTINI, E., OPITZ, J.M., BALLABIO, A. and MUENKE, M. (1998). Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am. J. Hum. Genet. 63: 703-710.
8. GLOVER, T.W. (1995). CATCHing a break on 22. Nat. Genet. 10: 257-258.
9. GOLDBERG, Y. (1999). Protein phosphatase 2A: who shall regulate the regulator? Biochem. Pharmacol. 57: 321-328.
10. HELMS, J.A., KIM, C.H., HU, D., MINKOFF, R., THALLER, C. and EICHELE, G. (1997). Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev. Biol. 187: 25-35.
11. HU, D. and HELMS, J.A. (1999). The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126: 4873-4884.
12. LIU, J., PRICKETT, T.D., ELLIOTT, E., MERONI, G. and BRAUTIGAN, D.L. (2001). Phosphorylation and microtubule association of the Opitz syndrome protein mid1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc. Natl. Acad. Sci. USA 98: 6650-6655.
13. McDONALD-McGINN, D.M., DRISCOLL, D.A., BASON, L., CHRISTENSEN, K., LYNCH, D., SULLIVAN, K., CANNING, D., ZAVOD, W., QUINN, N. and ROME, J. (1995). Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am. J. Med. Genet. 59: 103-113.
14. McGONNELL, I.M., CLARKE, J.D. and TICKLE, C. (1998). Fate map of the developing chick face: analysis of expansion of facial primordia and establishment of the primary palate. Dev. Dyn. 212: 102-118.
15. OPITZ, J.M. (1987). G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome) - perspective in 1987 and bibliography. Am. J. Med. Genet. 28: 275-285.
16. PETERKA, M. and JELINEK, R. (1983). Origin of hydrocortisone induced orofacial clefts in the chick embryo. Cleft Palate J. 20: 35-46.
17. QUADERI, N.A., SCHWEIGER, S., GAUDENZ, K., FRANCO, B., RUGARLI, E.I., BERGER, W., FELDMAN, G.J., VOLTA, M., ANDOLFI, G., GILGENKRANTZ, S., MARION, R.W., HENNEKAM, R.C., OPITZ, J.M., MUENKE, M., ROPERS, H.H. and BALLABIO, A. (1997). Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat. Genet. 17: 285-291.
18. RICHMAN, J.M. and TICKLE, C. (1989). Epithelia are interchangeable between facial primordia of chick embryos and morphogenesis is controlled by the mesenchyme. Dev. Biol. 136: 201-210.
19. ROBIN, N.H., FELDMAN, G.J., ARONSON, A.L., MITCHELL, H.F., WEKSBERG, R., LEONARD, C.O., BURTON, B.K., JOSEPHSON, K.D., LAXOVA, R. and ALECK, K.A. (1995). Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat. Genet. 11: 459-461.
20. ROBIN, N.H., OPITZ, J.M. and MUENKE, M. (1996). Opitz G/BBB syndrome. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am. J. Med. Genet. 62: 305-317.
21. ROWE, A., RICHMAN, J.M. and BRICKELL, P.M. (1991). Retinoic acid treatment alters the distribution of retinoic acid receptor-beta transcripts in the embryonic chick face. Development 111: 1007-1016.
22. SCAMBLER, P.J. (2000). The 22q11 deletion syndromes. Hum. Mol. Genet. 9: 2421-2426.
23. SCHMELZLE, T. and HALL, M.N. (2000). TOR, a central controller of cell growth. Cell 103: 253-262.
24. SCHWEIGER, S., FOERSTER, J., LEHMANN, T., SUCKOW, V., MULLER, Y.A., WALTER, G., DAVIES, T., PORTER, H., VAN BOKHOVEN, H., LUNT, P.W., TRAUB, P. and ROPERS, H.H. (1999). The Opitz syndrome gene product, MID1, associates with microtubules. Proc. Natl. Acad. Sci. USA 96: 2794-2799.
25. SHEN, H., WILKE, T., ASHIQUE, A.M., NARVEY, M., ZERUCHA, T., SAVINO, E., WILLIAMS, T. and RICHMAN, J.M. (1997). Chicken transcription factor AP-2: cloning, expression and its role in outgrowth of facial prominences and limb buds. Dev. Biol. 188: 248-266.
26. SHORT, K.M., HOPWOOD, B. and COX, T.C. (in preparation). Further subdivision of the RBCC family of proteins defined by the presence of a Fibronectin type III motif.
27. SHORT, K.M., HOPWOOD, B., ZOU, Y. and COX, T.C. (2002). MID1 and MID2 homo- and hetero-dimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. BMC Cell Biol. 3: 1.
28. SUN, D., BAUR, S. and HAY, E.D. (2000). Epithelial-mesenchymal transformation is the mechanism for fusion of the craniofacial primordia involved in morphogenesis of the chicken lip. Dev. Biol. 228: 337-349.
29. WEDDEN, S.E. (1987). Epithelial-mesenchymal interactions in the development of chick facial primordia and the target of retinoid action. Development 99: 341-351.
30. WILL, L.A. and MELLER, S.M. (1981). Primary palatal development in the chick. J. Morphol. 169: 185-190.
31. WILLIAMS, C.A. and FRIAS, J.L. (1987). Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. Am. J. Med. Genet. 28: 297-302.