The molecular basis of intellectual disability: Novel genes with naturally occurring mutations causing altered gene expression in the brain

Frontiers in Bioscience

Volumn 9, Issue , 2004, Pages 1-7

  Gécz, Jozef ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Cognitive Function; Gene Expression; Hypothesis; Mental retardation; Review; Signaling; X Linked

Indexed keywords

BRAIN FUNCTION; CELL ACTIVITY; EVOLUTION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC LINKAGE; HUMAN; INCIDENCE; INTELLECTUAL IMPAIRMENT; MENTAL DEFICIENCY; MOLECULAR DYNAMICS; NONHUMAN; REVIEW; SEX CHROMOSOME; X CHROMOSOME; BRAIN; GENE EXPRESSION REGULATION; GENETICS; MUTATION; PHYSIOLOGY; X LINKED MENTAL RETARDATION;

ANIMALIA;

BRAIN; CHROMOSOMES, HUMAN, X; GENE EXPRESSION REGULATION; HUMANS; MENTAL RETARDATION, X-LINKED; MUTATION;

EID: 2542441563     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/1199     Document Type: Review

References (63)

1. Battaglia A.: Genetics of Mental Retardation. Am J Med Genet 117C, 1-2, (2003)
2. Turner G.: Finding genes on the X chromosome by which homo may have become sapiens. Am J Hum Genet 58, 1109-1110 (1996)
3. Chelly, J. & J.L. Mandel: Monogenic causes of X-linked mental retardation. Nat Rev Genet 9, 669-680 (2001)
4. Mulley J.C., B. Kerr, R. Stevenson & H. Lubs: Nomenclature guidelines for X-linked mental retardation. Am J Med Genet 1992 43, 383-391 (1992)
5. Gécz J.: The FMR2 gene. FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. Ann Hum Genet 64(Pt 2), 95-106 (2000)
6. Gibbons R.J. & D.R. Higgs: Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97, 204-212 (2000)
7. Shahbazian M.D. & H.Y. Zoghbi: Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 71, 1259-1272 (2002)
8. Strømme P., M.E. Mangelsdorf, M.A. Shaw, K.M. Lower, S.M. Lewis, H. Bruyere, V. Lutcherath, A.K. Gedeon, R.H. Wallace, I.E. Scheffer, G. Turner, M. Partington, S.G. Prints, J.P. Fryns, G.R. Sutherland, J.C. Mulley & J. Gécz: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30, 441-445 (2002)
9. Strømme P., M.E. Mangelsdorf, I.E. Scheffer & J. Gécz: Infantile spasms. dystonia. and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene. ARX. Brain Dev 24, 266-268 (2002)
10. Kitamura K., M. Yanazawa, N. Sugiyama, H. Miura, A, Iizuka-Kogo, M. Kusaka, K. Omichi, R. Suzuki, Y. Kato-Fukui, K. Kamiirisa, M. Matsuo, S. Kamijo, M. Kasahara, H. Yoshioka, T. Ogata, T. Fukuda, I. Kondo, M. Kato, W.B. Dobyns, M. Yokoyama & K. Morohashi: Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 32, 359-369 (2002)
11. Jamain S., H. Quach, C. Betancur, M. Rastam, C. Colineaux, I.C. Gillberg, H. Soderstrom, B. Giros, M. Leboyer, C. Gillberg, T. Bourgeron & Paris Autiism Research International Sibpair Study: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34, 27-29 (2003)
12. Herbst. D.S. & J.R, Miller: Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet 7, 461-469 (1980)
13. Kerr B., G. Turner, J.C. Mulley, A.K. Gedeon & M. Partington: Non-specific X linked mental retardation. J Med Genet 28, 378-382 (1991)
14. Chiurazzi, P., B.C. Hamel & G. Neri: XLMR genes: update 2000. Eur J Hum Genet 2, 71-81 (2001)
15. Ropers H.H., M. Hoeltzenbein, V. Kalscheuer, H. Yntema., B. Hamel, J.P. Fryns, J. Chelly, G. Turner, J. Gécz & C. Moraine: Non-syndromic X-linked mental retardation: where are the missing mutations? Trends Genet 19, 316-320 (2003)
16. Molinari F., M. Rio, V. Meskenaite, F. Encha-Razavi, J. Auge, D. Bacq, S. Briault, M. Vekemans, A. Munnich, T. Attie-Bitach, P. Sonderegger & L. Colleaux: Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 298, 1779-1781 (2002)
17. Suthers G.K., G. Turner & J.C. Mulley: A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14. Am J Med Genet 30, 485-491 (1988)
18. Gécz J., A.K. Gedeon, G.R. Sutherland & J.C. Mulley: Identification of the gene FMR2. associated with FRAXE mental retardation. Nat Genet 13, 105-108 (1996)
19. Gu Y., Y. Shen, R.A. Gibbs & D.L. Nelson: Identification of FMR2. a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 13, 109-113 (1996)
20. Bienvenu T., K. Poirier, G. Friocourt, N. Bahi, D. Beaumont, F. Fauchereau, L. Ben Jeema, R. Zemni, M.C. Vinet, F. Francis, P. Couvert, M. Gomot, C. Moraine, H. van Bokhoven, V. Kalscheuer, S. Prints, J. Gécz, K. Ohzaki, H. Chaabouni, J.P. Fryns, V. Desportes, C. Beldjord & J. Chelly: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 11, 981-991 (2002)
21. Gedeon A.K., A.J. Donnelly, J.C. Mulley, B. Kerr & G. Turner: How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 64, 158-162 (1996)
22. Gécz J. & J.C. Mulley: Genes for cognitive function: developments on the X. Genome Res 10, 157-163 (2000)
23. Adams M.D., A.R. Kerlavage, R.D. Fleischmann, R.A. Fuldner, C.J. Bult, N.H. Lee, E.F. Kirkness, K.G. Weinstock, J.D. Gocayne, O. White et al.: Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Nature 377, 3-174 (1995)
24. Shaw M.A., P. Chiurazzi, D.R. Romain, G. Neri & J. Gécz: A novel gene. FAM11A. associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation. Eur J Hum Genet 10, 767-772 (2002)
25. Gedeon A.K., A. Colley, R. Jamieson, E.M. Thompson, J. Rogers, D. Sillence, G.E. Tiller, J.C. Mulley & J. Gécz: Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 22, 400-404 (1999)
26. Jaffer Z.M. & J. Chernoff: p21-activated kinases: three more join the Pak. Int J Biochem Cell Biol 34, 713-717 (2002)
27. Garrett M.D., J.E. Zahner, C.M. Cheney & P.J. Novick: GDI1 encodes a GDP dissociation inhibitor that plays an essential role in the yeast secretory pathway. EMBO J 13, 1718-1728 (1994)
28. Thomas G.: The S6 kinase signaling pathway in the control of development and growth. Biol Res 35, 305-313 (2002)
29. Wittenberg G.M. & J.Z. Tsien: An emerging molecular and cellular framework for memory processing by the hippocampus. Trends Neurosci 25, 501-505 (2002)
30. Boda B, C. Mas & D. Muller: Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation. Neuroscience 114, 13-17 (2002)
31. Gu Y., K.L. McIlwain, E.J. Weeber, T. Yamagata, B. Xu, B.A. Antalffy, C. Reyes, L. Yuva-Paylor, D. Armstrong, H. Zoghbi, J.D. Sweatt, R. Paylor & D.L. Nelson: Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci 22, 2753-2763 (2002)
32. D'Adamo, P., H. Welzl, S. Papadimitriou, M. Raffaele di Barletta, C. Tiveron, L. Tatangelo, L. Pozzi, P.F. Chapman, S.G. Knevett, M.F. Ramsay, F. Valtorta, C. Leoni, A. Menegon, D.P. Wolfer, H.P. Lipp & D. Toniolo: Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol. Genet 11, 2567-2580 (2002)
33. Barnes A.P. & S.L. Milgram: Signals from the X: signal transduction and X-linked mental retardation. Int J Dev Neurosci 20, 397-406 (2002)
34. Ramakers G.J.A.: Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci 25, 191-199 (2002)
35. Antonarakis S.E. & L. Van Aelst: Mind the GAP, Rho, Rab and GDI. Nat Genet 19, 106-108 (1998)
36. Kutsche K., H. Yntema, A. Brandt, I. Jantke, H.G. Nothwang, U. Orth, M.G. Boavida, D. David, J. Chelly, J.P. Fryns, C. Moraine, H.H. Ropers, B.C. Hamel, H. van Bokhoven & A. Gal: Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet 26, 247-250 (2000)
37. Merienne K., S. Jacquot, S. Pannetier, M. Zeniou, A. Bankier, J. Gécz, J.L. Mandel, J.C. Mulley, P. Sassone-Corsi & A. Hanauer: A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet 22, 13-14 (1999)
38. Mackintosh, N.J.: IQ and Human Intelligence. Oxford University Presss, New York (1998)
39. Zechner U., M. Wilda, H. Kehrer-Sawatzki, W. Vogel, R. Fundele & H. Hameister: A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet 17, 697-701 (2001)
40. Marshall Graves J.A., J. Gécz & H. Hameister: Evolution of the human X - a smart and sexy chromosome that controls speciation and development. Cytogen Genome Res 99 - in press (2003).
41. Carruth, L.L., I. Reisert & A.P. Arnold: Sex chromosome genes directly affect brain sexual differentiation. Nature Neurosci 5, 933-934 (2002)
42. Enard W., P. Khaitovich, J. Klose, S. Zollner, F. Heissig, P. Giavalisco, K. Nieselt-Struwe, E. Muchmore, A. Varki, R. Ravid, G.M. Doxiadis, R.E. Bontrop & S. Paabo: Intra- and interspecific variation in primate gene expression patterns. Science 296, 340-343 (2002)
43. Gu, J. & X. Gu: Induced gene expression in human brain after the split from chimpanzee. Trends Genet 19, 63-65 (2003)
44. Sudbrak R., G. Wieczorek, U.A. Nuber, W. Mann, R. Kirchner, F. Erdogan, C.J. Brown, D. Wohrle, P. Sterk, V.M. Kaischeuer, W. Berger, H. Lehrach & H.H. Ropers: X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Hum Mol Genet 10, 77-83 (2001)
45. Billuart P., T. Bienvenu, N. Ronce, V. des Portes, M.C. Vinet, R. Zemni, H. Roest Crollius, A. Carrie, F. Fauchereau, M. Cherry, S. Briault, B.C. Hamel, J.P. Fryns, C. Beldjord, A. Kahn, C. Moraine & J. Chelly: Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392, 923-926 (1998)
46. Allen K.M., J.G. Gleeson, S. Bagrodia, M.W. Partington, J.C. MacMillan, R.A. Cerione, J.C Mulley & C.A. Walsh: PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 20, 25-30 (1998)
47. D'Adamo P. A. Menegon, C. Lo Nigro, M. Grasso, M. Gulisano, F. Tamanini, T. Bienvenu, A.K. Gedeon, B. Oostra, S.K. Wu, A. Tandon, F. Valtorta, W.E. Balch, J. Chelly & D. Toniolo: Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 19, 134-139 (1998)
48. Carrie A., L. Jun, T. Bienvenu, M.C. Vinet, N. McDonell, P. Couvert, R. Zemni, A. Cardona, G. Van Buggenhout, S. Frints, B.C. Hamel, C. Moraine, H.H. Ropers, T. Strom, G.R. Howell, A. Whittaker, M.T. Ross, A. Kahn, J.P. Fryns, C. Beldjord, P. Marynen & J. Chelly: A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 23, 25-31 (1999)
49. Zemni R., T. Bienvenu, M.C. Vinet, A. Sefiani, A. Carrie, P. Billuart, N. McDonell, P. Couvert, F. Francis, P. Chafey, F. Fauchereau, G. Friocourt, V. Portes, Cardona, S. Frints, A. Meindl, O. Brandau, N. Ronce, C. Moraine, H. Bokhoven, H.H. Ropers, R. Sudbrak, A. Kahn, J.P. Fryns, C. Beldjord & J. Chelly: A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet 24, 167-170 (2000)
50. Hahn K.A., G.S. Salomons, D. Tackels-Horne, T.C. Wood, H.A. Taylor, R.J. Schroer, H.A. Lubs, C. Jakobs, R.L. Olson, K.R. Holden, R.E Stevenson & C.E Schwartz: X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 70, 1349-1356 (2002)
51. Meloni I., M. Muscettola, M. Raynaud, I. Longo, M. Bruttini, M.P. Moizard, M. Gomot, J. Chelly, V. des Portes, J.P. Fryns, H.H. Ropers, B. Magi, C. Bellan, N. Volpi, H. Yntema, S.E. Lewis, J.E. Schaffer & A. Renieri: FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet 30, 436-440 (2002)
52. Vervoort V.S., M.A. Beachem, P.S. Edwards, S. Ladd, K.E. Miller, X. de Mollerat, K. Clarkson, B. DuPont, C.E. Schwartz, R.E. Stevenson, E. Boyd & A.K. Srivastava: AGTR2 mutations in X-linked mental retardation. Science 296, 2401-2403 (2002)
53. Amir R.E., I.B. Van den Veyver, M. Wan, C.Q. Tran, U. Francke & H.Y. Zoghbi: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23, 185-188 (1999)
54. Orrico A., C. Lam, L. Galli, M.T. Dotti, G. Hayek, S.F. Tong, P.M. Poon, M. Zappella, A. Federico & V. Sorrentino: MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 481, 285-288 (2000)
55. Yntema H.G., A. Poppelaars, E. Derksen, A.R. Oudakker, T. van Roosmalen, A. Jacobs, H. Obbema, H.G. Brunner, B.C. Hamel & H. van Bokhoven: Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 110, 243-247 (2002)
56. Lebel R.R., M. May, S. Pouls, H.A.Lubs, R.E. Stevenson & C.E. Schwartz: Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet 61, 139-145 (2002)
57. van der Maarel S.M., LH. Scholten, I. Huber, C. Philippe, R.F. Suijkerbuijk, S. Gilgenkrantz, J. Kere, F.P. Cremers & H.H. Ropers: Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Hum Mol Genet 1996 5, 887-897 (1996)
58. Gécz J., S. Barnett, J. Liu, G. Hollway, A. Donnelly, H. Eyre, H.S. Eshkevari, R. Baltazar, A. Grunn, R. Nagaraja, C. Gilliam, L. Peltonen, G.R. Sutherland, M. Baron & J.C. Mulley: Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics 62, 356-368 (1999)
59. Yntema H.G., B. van den Helm, J. Kissing, G. van Duijnhoven, F. Poppelaars, J. Chelly, C. Moraine, J.P. Fryns, B.C. Hamel, H. Heilbronner, H.J. Pander, H.G. Brunner, H.H. Ropers, F.P. Cremers & H. van Bokhoven: A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics 1999 62, 332-343 (1999)
60. Schroer A., M.P. Scheer, S. Zacharias, S. Schneider, H.H. Ropers, H.G. Nothwang, J. Chelly, B. Hamel, J.P. Fryns, P. Shaw & C. Moraine: Cosegregation of T108A Elk-1 with mental retardation. Am J Med Genet 95, 404-405 (2000)
61. Fukami M., S. Kirsch, S. Schiller, A. Richter, V. Benes, B. Franco, K. Muroya, E. Rao, S. Merker, B. Niesler, A. Ballabio, W. Ansorge, T. Ogata G.A. & G.A. Rappold: A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 67, 563-573 (2000)
62. Jun L., S. Frints, H. Duhamel, A. Herold, J. Abad-Rodrigues, C. Dotti, E. Izaurralde, P. Marynen & G. Froyen: NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. Curr Biol 11, 1381-1391 (2001)
63. Lossi A.M., F. Lau gier- Anfossi, D. Depetris, J. Gécz, A.K. Gedeon, F. Kooy, C. Schwartz, M.G. Mattei, M.F. Croquette & L. Villard: Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. J Med Genet 39, 113-117 (2002)