Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules

BMC Cell Biology

Volumn 5, Issue , 2004, Pages

  Berti, Caterina ^a,b   Fontanella, Bianca ^a   Ferrentino, Rosa ^a   Meroni, Germana ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b DIBIT HSR Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MICROTUBULE ASSOCIATED PROTEIN; PHOSPHATASE; PROTEIN MIG12; TUBULIN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

ACETYLATION; ANIMAL CELL; ARTICLE; CELL ACTIVITY; CELL DIVISION; CELL MIGRATION; CELL NUCLEUS; CLEFT PALATE; CLINICAL FEATURE; COOPERATION; CYTOPLASM; CYTOSKELETON; DEPOLYMERIZATION; EMBRYO DEVELOPMENT; EMBRYONIC STRUCTURES; ENZYME DEGRADATION; ENZYME SUBUNIT; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPERTELORISM; HYPOSPADIAS; IMMUNOPRECIPITATION; IN VIVO STUDY; MICROTUBULE; MICROTUBULE ASSEMBLY; MICROTUBULE ORGANIZING CENTER; NEUROEPITHELIUM; NONHUMAN; NUCLEOTIDE SEQUENCE; OPITZ SYNDROME; PATHOPHYSIOLOGY; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN INTERACTION; PROTEIN PHOSPHORYLATION; PROTEIN POLYMERIZATION; PROTEIN STRUCTURE; SEQUENCE HOMOLOGY; TWO HYBRID SYSTEM; UROGENITAL SYSTEM; WESTERN BLOTTING; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CENTRAL NERVOUS SYSTEM; EMBRYO, MAMMALIAN; GENE EXPRESSION; HUMANS; MICE; MICROTUBULE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MICROTUBULES; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PROTEINS; SMITH-LEMLI-OPITZ SYNDROME; TRANSCRIPTION FACTORS; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 2342556426     PISSN: 14712121     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2121-5-9     Document Type: Article

References (43)

1. Opitz JM, Frías JL, Gutenberger JE, Pellet JR: The G syndrome of multiple congenital anomalies. Birth defects: Original Article Series 1969, (V)2:95-102.
2. Opitz JM, Summitt RL, Smith DW: The BBB syndrome familial telecanthus with associated congenital anomalies. Birth Defects: Original Article Series 1969, (V)2:86-94.
3. Cappa M, Borrelli P, Marini R, Neri G: The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes. Am J Med Genet 1987, 28:303-309.
4. Cordero JF, Holmes LB: Phenotypic overlap of the BBB and G syndromes. Am J Med Genet 1978, 2:145-152.
5. Robin NH, Opitz JM, Muenke M: Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet 1996, 62:305-317.
6. Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM, Muenke M: Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 1995, 11:459-461.
7. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RCM, Opitz JM, Muenke M, Ropers HH, Ballabio A: Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics 1997, 17:285-291.
8. Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M: Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet 1998, 63:703-710.
9. Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK: New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet 2000, 9:2553-2562.
10. Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S: Duplication of the MID1 first exon in a patient with Opitz G/ BBB syndrome. Hum Genet 2003, 112:249-254.
11. De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G: Xlinked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet 2003, 120A:222-228.
12. Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, Disteche CM, Rugarli EI: The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet 1998, 7:489-499.
13. Richman JM, Fu KK, Cox LL, Sibbons JP, Cox TC: Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development. Int J Dev Biol 2002, 46:441-448.
14. Granata A, Quaderi NA: The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node. Dev Biol 2003, 258:397-405.
15. Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY: Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics 1998, 51:251-261.
16. Palmer S, Perry J, Kipling D, Ashworth A: A gene spans the pseudoautosomal boundary in mice. Proc Natl Acad Sci U S A 1997, 94:12030-12035.
17. Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A: The tripartite motif family identifies cell compartments. Embo J 2001, 20:2140-2151.
18. Cainarca S, Messali S, Ballabio A, Meroni G: Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet 1999, 8:1387-1396.
19. Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH: The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci U S A 1999, 96:2794-2799.
20. Inui S, Kuwahara K, Mizutani J, Maeda K, Kawai T, Nakayasu H, Sakaguchi N: Molecular cloning of a cDNA clone encoding a phosphoprotein component related to the Ig receptor-mediated signal transduction. J Immunol 1995, 154:2714-2723.
21. Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL: Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc Natl Acad Sci U S A 2001, 98:6650-6655.
22. Short KM, Hopwood B, Yi Z, Cox TC: MID1 and MID2 homo- and heterodimerise 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 2002, 3:1.
23. Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S: MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet 2001, 29:287-294.
24. Schweiger S, Schneider R: The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome. Bioessays 2003, 25:356-366.
25. Conway G: A novel gene expressed during zebrafish gastrulation identified by differential RNA display. Mech Dev 1995, 52:383-391.
26. Kinlaw WB, Church JL, Harmon J, Mariash CN: Direct evidence for a role of the "spot 14" protein in the regulation of lipid synthesis. J Biol Chem 1995, 270:16615-16618.
27. Cunningham BA, Moncur JT, Huntington JT, Kinlaw WB: "Spot 14" protein: a metabolic integrator in normal and neoplastic cells. Thyroid 1998, 8:815-825.
28. Errico A, Ballabio A, Rugarli EI: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 2002, 11:153-163.
29. Webster DR, Borisy GG: Microtubules are acetylated in domains that turn over slowly. J Cell Sci 1989, 92 ( Pt 1):57-65
30. Wilkie AO, Morriss-Kay GM: Genetics of craniofacial development and malformation. Nat Rev Genet 2001, 2:458-468.
31. Chow RL, Lang RA: Early eye development in vertebrates. Annu Rev Cell Dev Biol 2001, 17:255-296.
32. Quarmby L: Cellular Samurai: katanin and the severing of microtubules. J Cell Sci 2000, 113 ( Pt 16):2821-2827.
33. Mandelkow E, Mandelkow EM: Microtubules and microtubuleassociated proteins. Curr Opin Cell Biol 1995, 7:72-81.
34. Mollinari C, Kleman JP, Jiang W, Schoehn G, Hunter T, Margolis RL: PRC1 is a microtubule binding and bundling protein essential to maintain the mitotic spindle midzone. J Cell Biol 2002, 157:1175-1186.
35. Haren L, Merdes A: Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules. J Cell Sci 2002, 115:1815-1824.
36. Akhmanova A, Hoogenraad CC, Drabek K, Stepanova T, Dortland B, Verkerk T, Vermeulen W, Burgering BM, De Zeeuw CI, Grosveld F, Galjart N: Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts. Cell 2001, 104:923-935.
37. Stein PA, Toret CP, Salic AN, Rolls MM, Rapoport TA: A novel centrosome-associated protein with affinity for microtubules. J Cell Sci 2002, 115:3389-3402.
38. Manabe R, Whitmore L, Weiss JM, Horwitz AR: Identification of a Novel Microtubule-Associated Protein that Regulates Microtubule Organization and Cytokinesis by Using a GFP-Screening Strategy. Curr Biol 2002, 12:1946-1951.
39. Gundersen GG: Evolutionary conservation of microtubule-capture mechanisms. Nat Rev Mol Cell Biol 2002, 3:296-304.
40. Finley R. L., Jr., Brent R: Interaction mating reveals binary and ternary connections between Drosophila cell cycle regulators. Proc Natl Acad Sci U S A 1994, 91:12980-12984.
41. Graham FL, van der Eb AJ: A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology 1973, 52:456-467.
42. Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G: Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet 1993, 4:19-26.
43. Surace EM, Angeletti B, Ballabio A, Marigo V: Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. Invest Ophthalmol Vis Sci 2000, 41:4333-4337.