UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

Human Molecular Genetics

Volumn 6, Issue 2, 1997, Pages 259-265

  Pizzuti, Antonio ^a,b   Novelli, Giuseppe ^c   Ratti, Antonia ^a   Amati, Francesca ^b,c   Mari, Aldo ^b,c   Calabrese, Giuseppe ^d   Nicolis, Silvia ^a   Silani, Vincenzo ^e   Marino, Bruno ^f   Scarlato, Guglielmo ^a   Ottolenghi, Sergio ^a   Dallapiccola, Bruno ^b,c,g  

^a UNIVERSITY OF MILAN   (Italy)

^b Ospedale CSS San Giovanni Rotondo   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g Cattedra di Genetica Medica e Umana   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HYBRID PROTEIN; UBIQUITIN;

ANIMAL TISSUE; ARTICLE; CATCH 22 SYNDROME; CHROMOSOME 22Q; CLEFT PALATE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIGEORGE SYNDROME; EMBRYO; EMBRYO DEVELOPMENT; EYE; FACE MALFORMATION; GENE DELETION; GENE LOCUS; GENETIC CONSERVATION; HEMIZYGOSITY; HUMAN; HUMAN CELL; HYPOCALCEMIA; INNER EAR; MOLECULAR CLONING; MOUSE; MULTIPLE MALFORMATION SYNDROME; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; THYMUS DISEASE; YEAST;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; DNA, COMPLEMENTARY; GENE DELETION; GENE EXPRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; MOLECULAR SEQUENCE DATA; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; UBIQUITINS;

ANIMALIA; MURINAE; VERTEBRATA;

EID: 8044247810     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.259     Document Type: Article

References (44)

1. Wilson, D.I., Bum, J., Scambler, P.J. and Goodship, J. (1993) DiGeorge syndrome: part of CATCH 22. J. Med. Genet., 30, 852-856.
2. Goldberg, R., Motzkin, B., Marion, R., Scambler, P.J. and Shprintzen, R.J. (1993) Velo-cardio-facial syndrome: a review of 120 patients. Am. J. Med. Genet., 45, 313-319.
3. Greenberg, F.(1993) DiGeorge syndrome: an historical review of clinical and cytogenetic features. J. Med. Genet., 30, 803-806.
4. Mitnick, R.J., Bello, A.J. and Shprintzen, R.J. (1994) Brain anomalies in velo-cardio-facial syndrome. Am. J. Med. Genet., 54, 100-106.
5. Karayiorgou, M., Morris, M.A., Morrow, B.,Shprintzen, R.J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P.S., Lasseter, V.K., Eisen, H., Childs, B., Kazazian, H.H., Kucherlapati, R., Antonarakis, S.E., Pulver, A.E. and Housman, D.E. (1995) Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc. Natl Acad. Sci. USA, 92, 7612-7616.
6. Devriendt, K., Swillen, A., Fryns, J.P.,Proesmans, W. and Gewilling, M. (1996) Renal and urological tract malformations caused by a 22q 11 deletion. J. Med. Genet., 33, 349-352.
7. Mansour, A.M., Goldberg, R.B., Wang, F.M. and Shprintzen, R.J. (1987) Ocular findings in the velo-cardio-facial syndrome. J. Ped. Ophthalmol. Strab., 24, 263-266.
8. Scambler, P.J. (1993) Deletions of chromosome 22 and associated birth defects. Curr. Opin. Genet. Dev., 3, 432-437.
9. Olson, E.N. and Srivastava, D. (1996) Molecular pathways controlling heart development. Science, 272, 671-676.
10. Scambler, P.J., Carey, A.H., Wyse, R.K.H., Roach, S., Dumanski, J.P., Nordenskjold, M. and Williamson, R. (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics, 10, 201-206.
11. Dallapiccola, B., Pizzuti, A. and Novelli, G. (1996) How many breaks do we need to CATCH on 22q11? Am. J. Hum. Genet., 59, 7-11.
12. Sirotkin, H., Morrow, B., DasGupta, R., Goldberg, R., Patanjali, S.R., Shi, G., Cannizzaro, L., Shprintzen, R., Weissman, S.M. and Kucherlapati, R. (1996) Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. Hum. Mol. Genet., 5, 617-624.
13. Johnson, E.S., Bartel, B., Seufert, W. and Varshavsky, A. (1992) Ubiquitin as a degradation signal. EMBO J., 11, 497-505.
14. Johnson, E.S., Ma, P.C.M., Ota, I.M. and Varshavsky, A. (1995) A proteolytic pathway that recognizes ubiquitin as a degradation pathway. J. Biol. Chem., 270, 17442-17456.
15. Halford, S., Wadey, R., Roberts, C., Daw, S.C.M., Whiting, J.A., O'Donnell, H., Dunham, I., Bentley, D., Lindsay, E., Baldini, A., Francis, F., Lehrach, H., Williamson, R., Wilson, D.I., Goodship, J., Cross, I., Burn, J. and Scambler, P.J. (1993) Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum. Mol. Genet., 2, 2099-2107.
16. Morrow, B., Goldberg, R., Carlson, C., Das Gupta, R., Sirotkin, H., Collins, J., Dunham, I., O'Donnell, H., Scambler, P.J., Shprintzen, R. and Kucherlapati, R. (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am. J. Hum. Genet., 56, 1391-1403.
17. Ciechanover, A. and Schwartz, A.L. (1994) The ubiquitin-mediated proteolytic pathway: mechanisms of recognition of the proteolytic substrate and involvement in the degradation of native cellular proteins. FASEB J., 8, 182-191.
18. Schwart, L., Myer, A., Kosz, L., Engelstein, M. and Maier, C. (1990) Activation of polyubiquitin gene expression during developmentally programmed cell death. Neuron, 5, 411-419.
19. Glotzer, M., Murray, A. and Kirschner, M. (1991) Cyclin is degraded by the ubiquitin pathway. Nature, 349, 132-138.
20. Scotting, P.,McDermott, H. and Majer, R. (1991) Ubiquitin protein conjugates and B crystallin are selectively present in cells undergoing major cytomorphological reorganization in early chicken embryos. FEBS Lett., 285, 75-79.
21. Murhalidar, M.G. and Thomas, J.B. (1993) The Drosophila bendless gene encodes a neural protein related to ubiquitin-conjugated enzymes. Neuron, 11, 253-266.
22. Smith-Thomas, L.C., Kent, C., Mayer, R.J. and Scotting, P.J. (1994) Protein ubiquitination and neuronal differentiation in chick embryos. Dev. Brain. Res., 81, 171-177.
23. Haas, A., Baboshina, O., Williams, B. and Schwartz, L. (1995) Coordinated induction of the ubiquitin conjugation pathway accompanies the developmentally programmed death of insect skeletal muscle. J. Biol. Chem., 270, 9407-9412.
24. Hashimoto, M.K., Mykles, D.L., Schwartz, C.M. and Fahrbach, S.E. (1996) Imaginai cell specific accumulation of the multicatalytic proteinase complex (proteasome) during post embryonic development in the tobacco homworm, Manduca sexta. J. Comp. Neural., 365, 329-341.
25. Wunsch, A.M. and Haas, A.L. (1995) Ubiquitin protein conjugates selectively distribute during early chicken embryogenesis. Dev. Dynam., 204, 118-132.
26. Hutson, M.R., Rhodes, M.R. and Kirby, M.L. (1994) Differential expression of a 28 kd proteasomal subunit homologue in chick embryos with and without cardiac neural crest. Mol. Biol. Cell, 5 (Suppl), 103a.
27. Baxter, R., Bannister, L.H., Dodson, H.C. and Gathercole, D.V. (1993) Protein gene product 9.5 in the developing cochlea of the rat: cellular distribution and relation to the cochlear cytoskeleton. J. Neurocytol., 22, 14-25.
28. Adkins, W.Y. and Gussen, R. (1974) Temporal bone findings in the third and fourth pharyngeal pouch (DiGeorge) syndrome. Arch. Otolaryngol., 100, 206-208.
29. Black, F.O., Spanier, S.S. and Kohut, R.I. (1975) Aural abnormalities in partial DiGeorge syndrome. Arch. Otolaryngol., 101, 129-134.
30. Ohtani, I. and Schuknecht, H.F. (1984) Temporal bone pathology in DiGeorge's syndrome. Ann. Otol. Rhinol. Laryngol., 93, 220-224.
31. Schmidt, J.M. (1985) Cochlear neuronal populations in developmental defects of the inner ear. Implication for cochlear implantation. Acta Otolaryngol. Stockh., 99, 14-20
32. Gong, W., Emanuel, B.S., Collins, J., Kim, D.H., Wang, Z., Chen, F., Zhang, G., Roe, B. and Budarf, M.L. (1996) A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum. Mol. Genet., 5, 789-800.
33. Sutherland, H.F., Wadey, R., McKie, J.M., Taylor, C., Atif, U., Johnstone, K.A., Halford, S., Kim, U., Goodship, J., Baldini, A. and Scambler, P.J. (1996) Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am. J. Hum. Genet., 59, 23-31.
34. Crackower, M., Scherer, S.W., Rommens, J.M., Hui, C., Poorkaj, P., Soder, S., Cobben, J.M., Hudgins, L., Evans, J.P. and Tsui, L. (1996) Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum. Mol. Genet., 5, 571-579.
35. Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M. and Keating, M.T. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet., 5,
36. Frangiskakis, J.M., Ewart, A.K., Morris, C.A., Mervis, C.B., Bertrand, J., Robinson, B.F., Klein, B.P., Ensing, G.J., Everett, L.A., Green, E.D., Proschel, C., Gutowski, N.J., Noble, M., Atkinson, D.A., Odelberg, S.J. and Keating, M.T. (1996) LIM-kinasel hemizigosity implicated in impaired visuospatial constructive cognition. Cell, 86, 59-69.
37. Ahn, J., Ludecke, H.-J., Lindow, S., Horton, W.A., Lee, B., Wagner, M.J., Horsthemke, B. and Wells, D.E. (1995) Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT 1). Nature Genet., 11, 137-143.
38. Bartsch, O., Wuyts, W., Van Hul, W., Hecht, J.T., Meinecke, P., Hogue, D., Werner, W., Zabel, B., Hinkel, G.K., Powell, C.M., Shaffer, L.G. and Willems, P.J. (1996) Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. Am. J. Hum. Genet., 58, 734-742.
39. Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frezal, J., Cohen, D., Weissenbach, J., Munnich, A. and Melki, J. (1995) Identification and characterization of a spinal muscolar atrophy-determining gene. Cell, 80, 155-165.
40. Roy, N., Mahadevan, M.S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T.O., de Jong, P.J., Surh, L., Ikeda, J.-E., Korneluk, R.G. and MacKenzie, A. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscolar atrophy. Cell, 80, 167-178.
41. Calabrese, G., Sallese, M., Stomaiuolo, A., Stuppia, L., Palka, G. and De Blasi, A. (1994) Chromosome mapping of the human arrestin (SAG), β-arrestin 2 (ARRB2), and β-adrenergic receptor kinase 2 (ADRBK2) genes. Genomics, 23, 286-288.
42. Baldini, A. and Ward, D.C. (1991) In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics, 9, 770-774.
43. Fidlerova, H., Senger, G., Kost, M., Sanseau, P. and Sheer, D. (1994) Two simple procedures for releasing chromatin from routinely fixed cells for fluorescence in situ hybridization. Cytogenet. Cell. Genet., 65, 203-205.
44. Pizzuti, A., Novelli, G., Mari, A., Ratti, A., Colosimo, A., Amati, F., Penso, D., Sangiuolo, F., Calabrese, G., Palka, G., Silani, V., Gennarelli, M., Mingarelli, R., Scarlato, G., Scambler, P.J. and Dallapiccola, B. (1996) Human homologue sequences to the Drosophila dishevelled segment polarity gene are deleted in the DiGeorge syndrome. Am. J. Hum. Genet., 58, 722-729.