Erratum: The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus (Human Molecular Genetics (2009) vol. 18 (3) (440-453) 10.1093/hmg/ddn371);The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Human Molecular Genetics

Volumn 18, Issue 3, 2009, Pages 440-453

  Dimitrov, Ariane ^d,e   Paupe, Vincent ^a   Gueudry, Charles ^d,e   Sibarita, Jean Baptiste ^d,e   Raposo, Graça ^d,e   Vielemeyer, Ole ^d,e   Gilbert, Thierry ^c   Csaba, Zsolt ^b   Attie Bitach, T Tania ^b   Cormier Daire, Valérie ^b   Gressens, Pierre ^a   Rustin, Pierre ^a   Perez, Franck ^d,e   El Ghouzzi, Vincent ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d INSTITUT CURIE   (France)

^e INSTITUT CURIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DYMECLIN; GREEN FLUORESCENT PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CELL MIGRATION; CELL ULTRASTRUCTURE; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DYGGVE MELCHIOR CLAUSEN SYNDROME; EMBRYO; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; HUMAN TISSUE; IN SITU HYBRIDIZATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

EID: 58749092690     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp062     Document Type: Erratum

References (37)

1. Cohn, D.H., Ehtesham, N., Krakow, D., Unger, S., Shanske, A., Reinker, K., Powell, B.R. and Rimoin, D.L. (2003) Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due tomutations in a novel, evolutionarily conserved gene. Am. J. Hum. Genet., 72, 419-428.
2. El Ghouzzi, V., Dagoneau, N., Kinning, E., Thauvin-Robinet, C., Chemaitilly, W., Prost-Squarcioni, C., Al-Gazali, L.I., Verloes, A., Le Merrer, M., Munnich, A. et al. (2003) Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum. Mol. Genet., 12, 357-364.
3. Paupe, V., Gilbert, T., Le Merrer, M., Munnich, A., Cormier-Daire, V. and El Ghouzzi, V. (2004) Recent advances in Dyggve-Melchior-Clausen syndrome. Mol. Genet. Metab., 83, 51-59.
4. Kinning, E., Tufarelli, C., Winship, W.S., Aldred, M.A. and Trembath, R.C. (2005) Genomic duplication in Dyggve-Melchior-Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. J. Med. Genet., 42, e70.
5. Engfeldt, B., Bui, T.H., Eklof, O., Hjerpe, A., Reinholt, F.P., Ritzen, E.M. and Wikstrom, B. (1983) Dyggve-Melchior-Clausen dysplasia. Morphological and biochemical findings in cartilage growth zones. Acta Paediatr. Scand., 72, 269-274.
6. Nakamura, K., Kurokawa, T., Nagano, A., Nakamura, S., Taniguchi, K. and Hamazaki, M. (1997) Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): Morphological findings in the growth plate of the iliac crest. Am. J. Med. Genet., 72, 11-17.
7. Kinning, E.F.J.A., El Ghouzzi, V., Cormier-Daire, V. and Trembath, R.C. Insights as to the function of Dymeclin, the protein product of the Dyggve-Melchior-Clausen syndrome (DMC) gene. European Human Genetics Conference, Birmingham, UK, 2003, Vol. 11 (suppl.), p. P556.
8. Farazi, T., Leichman, J., Harris, T., Cahoon, M. and Hedstrom, L. (1997) Isolation and characterization of mycophenolic acid-resistant mutants of inosine-5′-monophosphate dehydrogenase. J. Biol. Chem., 272 961-965.
9. Lorenz, H., Hailey, D.W., Wunder, C. and Lippincott-Schwartz, J. (2006) The fluorescence protease protection (FPP) assay to determine protein localization and membrane topology. Nat. protoc., 1, 276-279.
10. Vasudevan, C., Han, W., Tan, Y., Nie, Y., Li, D., Shome, K.,Watkins, S.C., Levitan, E.S. and Romero, G. (1998) The distribution and translocation of the G protein ADP-ribosylation factor 1 in live cells is determined by its GTPase activity. J. Cell Sci., 111, 1277-1285.
11. Presley, J.F., Ward, T.H., Pfeifer, A.C., Siggia, E.D., Phair, R.D. and Lippincott-Schwartz, J. (2002) Dissection of COPI and Arf1 dynamics in vivo and role in Golgi membrane transport. Nature, 417 187-193.
12. Nizak, C., Martin-Lluesma, S., Moutel, S., Roux, A., Kreis, T.E., Goud, B. and Perez, F. (2003) Recombinant antibodies against subcellular fractions used to track endogenous Golgi protein dynamics in vivo. Traffic, 4, 739-753.
13. Osipovich, A.B., Jennings, J.L., Lin, Q., Link, A.J. and Ruley, H.E. (2008) Dyggve-Melchior-Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic. Proc. Natl Acad. Sci. USA 105, 16171-16176.
14. Bertoni-Freddari, C., Fattoretti, P., Casoli, T., Di Stefano, G., Solazzi, M., Gracciotti, N. and Pompei, P. (2001) Mapping of mitochondrial metabolic competence by cytochrome oxidase and succinic dehydrogenase cytochemistry. J. Histochem. Cytochem., 49, 1191-1192.
15. Snyder, C.M., Mardones, G.A., Ladinsky, M.S. and Howell, K.E. (2006) GMx33 associates with the trans-Golgi matrix in a dynamic manner and sorts within tubules exiting the Golgi. Mol. Biol. Cell, 17 511-524.
16. Beck, M., Lucke, R. and Kresse, H. (1984) Dyggve-Melchior-Clausen syndrome: Normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate. Clin. Chim. Acta, 141, 7-15.
17. Naffah, J. (1976) The Dyggve-Melchior-Clausen syndrome. Am. J. Hum. Genet., 28, 607-614.
18. Ristow, M., Mulder, H., Pomplun, D., Schulz, T.J., Muller-Schmehl, K., Krause, A., Fex, M., Puccio, H., Muller, J., Isken, F. et al. (2003) Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. J. Clin. Invest., 112, 527-534.
19. Toledo, S.P., Saldanha, P.H., Lamego, C., Mourao, P.A., Dietrich, C.P. and Mattar, E. (1979) Dyggve-Melchior-Clausen syndrome: Genetic studies and report of affected sibs. Am. J. Med. Genet., 4, 255-261.
20. Sutterlin, C., Polishchuk, R., Pecot, M. and Malhotra, V. (2005) The Golgi-associated protein GRASP65 regulates spindle dynamics and is essential for cell division. Mol. Biol. Cell, 16, 3211-3222.
21. Puthenveedu, M.A., Bachert, C., Puri, S., Lanni, F. and Linstedt, A.D. (2006) GM130 and GRASP65-dependent lateral cisternal fusion allows uniform Golgi-enzyme distribution. Nat. Cell Biol., 8, 238-248.
22. Schotman, H., Karhinen, L. and Rabouille, C. (2008) dGRASP-mediated noncanonical integrin secretion is required for Drosophila epithelial remodeling. Dev. Cell, 14, 171-182.
23. Feinstein, T.N. and Linstedt, A.D. (2008) GRASP55 regulates Golgi ribbon formation. Mol. Biol. Cell, 19, 2696-2707.
24. Kirby, D.M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K.M., Kirk, E.P., Boneh, A., Taylor, R.W., Dahl, H.H. et al. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J. Clin. Invest., 114, 837-845.
25. Sato, K. (2004) COPII coat assembly and selective export from the endoplasmic reticulum. J. Biochem., 136, 755-760.
26. Boyadjiev, S.A., Fromme, J.C., Ben, J., Chong, S.S., Nauta, C., Hur, D.J., Zhang, G., Hamamoto, S., Schekman, R., Ravazzola, M. et al. (2006) Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat. Genet., 38, 1192-1197.
27. Fromme, J.C., Ravazzola, M., Hamamoto, S., Al-Balwi, M., Eyaid, W., Boyadjiev, S.A., Cosson, P., Schekman, R. and Orci, L. (2007) The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev. Cell, 13, 623-634.
28. Aridor, M. and Balch, W.E. (1999) Integration of endoplasmic reticulum signaling in health and disease. Nat. Med., 5, 745-751.
29. Kim, P.S. and Arvan, P. (1998) Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: Disorders of protein trafficking and the role of ER molecular chaperones. Endocr. Rev., 19, 173-202.
30. Shields, D. and Arvan, P. (1999) Disease models provide insights into post-Golgi protein trafficking, localization and processing. Curr. Opin. Cell Biol., 11, 489-494.
31. Gecz, J., Shaw, M.A., Bellon, J.R. and de Barros Lopes, M. (2003) Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. Gene, 320, 137-144.
32. Gedeon, A.K., Colley, A., Jamieson, R., Thompson, E.M., Rogers, J., Sillence, D., Tiller, G.E., Mulley, J.C. and Gecz, J. (1999) Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat. Genet., 22, 400-404.
33. Savarirayan, R., Thompson, E. and Gecz, J. (2003) Spondyloepiphyseal dysplasia tarda (SEDL, MIM#313400). Eur. J. Hum. Genet., 11, 639-642.
34. Wilkinson, D. (1992) In situ Hybridization: A Practical Approach. Oxford University Press, Oxford.
35. Boulanger, J., Kervrann, C. and Bouthemy, P. (2007) Space-time adaptation for patch-based image sequence restoration. IEEE Trans. Pattern Anal. Machine Intell., 29, 1096-1102.
36. Boulanger, J., Sibarita, J.-B., Kervrann, C. and Bouthemy, P. (2008) Non-parametric regression for patch-based fluoresence microscopy image sequence denoising. Proceedings of the IEEE International Symposium on Biological Imaging (ISBI'08), April 2008.
37. Raposo, G., Tenza, D., Mecheri, S., Peronet, R., Bonnerot, C. and Desaymard, C. (1997) Accumulation of major histocompatibility complex class II molecules in mast cell secretory granules and their release upon degranulation. Mol. Biol. Cell, 8, 2631-2645.