Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Nature Genetics

Volumn 19, Issue 2, 1998, Pages 134-139

  D'Adamo, Patrizia ^a   Menegon, Andrea ^b   Nigro, Cristiana Lo ^c   Grasso, Marina ^c   Gulisano, Massimo ^b   Tamanini, Filippo ^a   Bienvenu, Thierry ^d   Gedeon, Agi K ^e   Oostra, Ben ^f   Wu, Shih Kwang ^g   Tandon, Anurag ^g   Valtorta, Flavia ^b,h   Balch, William E ^g   Chelly, Jamel ^d   Toniolo, Daniela ^a  

^a CNR   (Italy)

^b San Raffaele Scientific Institute   (Italy)

^c GALLIERA HOSPITAL   (Italy)

^d INSTITUT COCHIN   (France)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^g SCRIPPS RESEARCH INSTITUTE   (United States)

^h UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENETIC SUSCEPTIBILITY; GROWTH REGULATION; HUMAN; LANGUAGE DEVELOPMENT; LEARNING; MENTAL DEFICIENCY; MISSENSE MUTATION; NERVE CELL DIFFERENTIATION; PATHOGENESIS; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 17344369362     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/487     Document Type: Article

References (42)

1. Lubs, H.A. et al. XLMR genes: update 1996. Am. J. Med. Genet. 64, 147-157 (1996).
2. Verkerk, A.J. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914 (1991).
3. Turner, G., Webb, T., Wake, S. & Robinson, H. Prevalence of fragile X syndrome. Am. J. Med. Genet. 64, 196-197 (1996).
4. Gedeon, A.K., Donnelly, A.J., Mulley, J.C., Kerr, B. & Turner, G. How many X-linked genes for non-specific mental retardation (MRX) are there? Am. J. Med. Genet. 64, 158-162 (1996).
5. Gecz, J., Gedeon, A.K., Sutherland, G.R. & Mulley, J.C. Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genet. 13, 105-108 (1996).
6. Bione, S. et al. Transcriptional organization of a 450-Kb region of the human X chromosome, in Xq28. Proc. Natl. Acad. Sci. USA 90, 10977-10981 (1993).
7. Wu, S.K., Zeng, K., Wilson, I.A. & Balch, W.E. Structural insights into the function of Rab GD1 superfamily. Trends Biochem. Sci. 21, 472-476 (1996).
8. Pfeffer, S.R., Dirac-Svejstrup, A.B. & Soldati, T. Rab GDP dissociation inhibitor: putting rab GTPases in the right place. J. Biol. Chem. 270, 17057-17059 (1995).
9. Sasaki, T. et al. Purification and characterization from bovine brain cytosol of a protein that inhibits the dissociation of GDP from and the subsequent binding of GTP to smg p25A, a ras p21-like GTP-binding protein. J. Biol. Chem. 265, 2333-2337 (1990).
10. Fisher von Mollard, G., Stahl, B., Khokhlatchev, A., Suedhof, T.C. & Jahn, R. Rab3C is a synaptic vesicle protein that dissociates from synaptic vesicle after stimulation of exocytosis. J. Biol. Chem. 269, 10971-10974 (1994).
11. Fischer von Mollard, G., Stahl, B., Li, C., Suedhof, T.C. & Jahn, R. Rab proteins in regulated exocytosis. Trends Biochem. Sci. 19, 164-168 (1994).
12. Wang, Y., Okamoto, M., Schmitz, F., Hofmann, K. & Suedhof, T.C. Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion. Nature 388, 593-598 (1997).
13. Geppert, M. et al. The role of Rab3A in neurotrasmitter release. Nature 369, 493-497 (1994).
14. +)-dependent exocytosis. Genes Cells 1, 615-632 (1996).
15. Bean, A.J. & Scheller, R.H. Better late than never: a role for rabs late in exocytosis. Neuron 19, 751-754 (1997).
16. Suedhof, T.C. Function of Rab3 GDP-GTP exchange. Neuron 18, 519-522 (1997).
17. Sedlacek, Z., Koneki, B., Korn, B., Klauck, S.M. & Poustka, A. Evolutionary conservation and genomic organization of XA P-4, an Xq28 gene coding for a human rab GDP-dissociation inhibitor (GDI). Mamm. Genome 5, 633-639 (1994).
18. Chen, E.Y. et al. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum. Mol. Genet. 5, 659-668 (1996).
19. des Portes, V. et al. A gene for dominant nonspecific X-linked mental retardation is located in Xq28. Am. J. Hum. Genet 60, 903-909 (1997).
20. Hamel, B.C.J. et al. A gene for non specific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. Am. J. Med. Genet 64, 131-133 (1996).
21. Ullrich, O. et al. Rab GDP dissociation inhibitor as a general regulator for the membrane association of rab proteins. J. Biol. Chem. 268, 18143-18150 (1993).
22. Claes, S. et al. X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. Clin. Genet. 52, 155-161 (1997).
23. Schalk, I. et al. Structure and mutatiorial analysis of Rab GDP-dissociation inhibitor. Nature 381, 42-43 (1996).
24. Casey, P.J. & Seabra, M.C. Protein prenyltransferases. J. Biol. Chem. 271, 5289-5292 (1996).
25. Garrett, M.G., Zahner, J.E., Cheney, C.M. & Novick, P.J. Gdi1p encodes a GDP dissociation inhibitor that plays an essential role in the yeast secretory pathway. EMBO J. 13, 1718-1728 (1994).
26. Novick, P. & Zerial, M. The diversity of Rab proteins in vesicle transport. Curr. Opin. Cell Biol. 9, 496-504 (1997).
27. Bachner, D., Sedlacek, Z., Korn, B., Hameister, H. & Poustka, A. Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. Hum. Mol. Genet. 4, 701-708 (1995).
28. Banker, G.A. & Cowan, W.M. Rat hippocampal neurons in dispersed cell culture. Brain Res. 126, 397-352 (1977).
29. Bartlett, W.P. & Banker, G.A. An electron microscopic study of the development of axons and dendrites by hippocampal neurons in culture. II. Synaptic relationships. J. Neurosci. 4, 1954-1965 (1984).
30. Geppert. M., Goda, Y., Stevens, C.F. & Suedhof, T.C. The small GTP-binding protein Rab3A regulates a late step in synaptic vescicles fusion. Nature 387, 810-814 (1997).
31. Castillo, P.E. et al. Rab3A is essential for mossy fibre long-term potentiation in the hippocampus. Nature 388, 590-593 (1997).
32. Cremers, F.P.M., van de Pol, T.J.R., van Kerkhoff, L.P.M., Wieringa, B. & Ropers, H.H. Cloning of a gene that is rearranged in patients with choroideremia. Nature 357, 674-677 (1990).
33. Seabra, M.C., Brown, M.S. & Goldstein, J.L. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science 259, 377-381 (1993).
34. Bione, S. et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet. 8, 323-327 (1994).
35. Spinardi, L. Mazars, R. & Theillet, C. Protocols for an improved detection of point mutations by SSCP. Nucleic Acids Res. 19, 4009 (1991)
36. Gulisano, M., Broccoli, V., Pardini, C. & Boncinelli, E. Emx1 and Emx2 show different patterns of expression during proliferation and differentiation of the developing cerebral cortex in the mouse. Eur. J. Neurosci. 8, 1037-1050 (1996).
37. Burgaya, F., Menegon, A., Menegoz, M., Valtorta, F. & Girault, J.A. Focal adhesion kinase in rat central nervous system. Eur. J. Neurosci. 7, 1810-1821 (1995).
38. Dascher, C. & Balch, W.E. Dominant inhibitory mutants of ARF1 block endoplasmic reticulum to Golgi transport and trigger disassembly of the Golgi apparatus. J. Biol. Chem. 269, 1437-1448 (1994).
39. Nuoffer, C., Peter, F. & Balch, W.E. Purification of His6-tagged Rab1 proteins using bacterial and insect cell expression systems. Methods Enzymol. 257, 3-8 (1995).
40. Fisher von Mollard, G., Suedhof, T.C. & Jahn R. Nature 349, 79-81 (1991)
41. Dekker, L.V., De Graan, P.N.E., Pijnappel, P., Oestreicher, A.B. & Gispen, W.H. Noradrenaline release from streptolysin O-permeated rat cortical synaptosomes: effects of calcium, phorbol esters, protein kinase inhibitors, and antibodies to the neuron-specific protein kinase C substrate B-50 (GAP-43). J. Neurochem. 56, 1146-1153 (1991)
42. Billuart. P. et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392, 923-926 (1998).