FMR2 expression in families with FRAXE mental retardation

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 435-441

  Gécz, Jozef ^a,b   Oostra, Ben A ^e   Hockey, Athel ^f   Carbonell, Pablo ^g   Turner, Gillian ^h   Haan, Eric A ^a   Sutherland, Grant R ^a,c   Mulley, John C ^a,d  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^f PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^g Ctro de Bioquim y Genet Clinica   (Spain)

^h SYDNEY CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID;

AMNION CELL; ARTICLE; BLOOD CELL; CHORION VILLUS; CLINICAL ARTICLE; CPG ISLAND; DNA METHYLATION; FIBROBLAST; FRAGILE X SYNDROME; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; HAIR ROOT; HUMAN; HUMAN CELL; INTELLIGENCE QUOTIENT; LYMPHOBLAST; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; PRIORITY JOURNAL;

BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; CELLS, CULTURED; CPG ISLANDS; DNA METHYLATION; DNA PRIMERS; DOSAGE COMPENSATION, GENETIC; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FLUORESCENCE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE EXPRESSION; HETEROZYGOTE DETECTION; HUMANS; INTELLIGENCE TESTS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROTEINS; RNA, MESSENGER; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS; SEQUENCE DELETION; TRANS-ACTIVATORS;

EID: 0031044516     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.435     Document Type: Article

References (35)

1. Sutherland, G.R. and Baker, E. (1992) Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Mol. Genet., 1, 111-113.
2. Flynn, G.A., Hirst, M.C., Knight, S.J.L., MacPherson, J.N., Barbe, J.C.K., Flannery, A.V. and Davies, K.E. (1993) Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J. Med. Genet., 30, 97-100.
3. Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E., Holland, J., Oostra, B.A., Bobrow, M. and Davies, K.E. (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell. 74, 127-134,
4. Allingham-Hawkins, D.J. and Ray, P.N. (1995) FRAXE expansion is not a common etiological factor among developmentally delayed males. Am. J. Hum Genet., 56, 72-76.
5. Zhong, N., Weina, J., Curley, D., Wang, D., Pietrofesa, J., Wu, W., Shen,Y., Pang, C., Poon, P., Liu, X., Gou, S., Kajanoja, E., Ryynanen, M., Dobkin, C. And Brown, W.T. (1996) A survey of FRAXE allele sizes in three populations. Am. J. Med. Genet., 64, 415-419.
6. Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., Holman, K., Mulley, J.C., Warren, S.T., Schlessinger, D., Sutherland, G.R. and Richards, R.I. (1991) Fragile X genotype characterized by an unstable region of DNA. Science, 252, 1179-1181.
7. Verkerk, A.J.M.H., Pieretti, M., Sutcleffe, J.S., Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F., Eussen, B.E., van Ommen, G.J.B., Blonden, L.A.J., Riggins, G.J., Chastain, J.L., Kunst, C.B., Galjaard, H., Caskey, C.T., Nelson, D.L., Oostra, B.A. and Warren, S.T. (1991) Identification of a gene (FMR-l) containing a CCG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
8. Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M.F. and Mandel, J.L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252, 1097-1102.
9. Mulley, J.C., Yu, S., Loesch, D.Z., Hay, D.A., Donnelly, A., Gedeon, A.K., Carbonell, P., Lopez, I., Glover, G., Gabarron, I., Yu, P.W.L., Baker, E., Haan, E.A., Hockey, A., Knight, S.J.L., Davies, K.E., Richards, R.I. and Sutherland, G.R. (1995) FRAXE and mental retardation. J. Med. Genet., 32, 162-169.
10. Knight, S.J.L., Voelckel, M.A., Hirst, M.C., Flannery, A.V., Moncla, A. and Davies, K.E. (1994) Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet., 55, 81-86.
11. Hamel, B.C.J., Smits, A.P.T., de Graaf, E., Smeets, D.F.C., Schoute,F., Eussen, B.H.J., Knight, S.J.L., Davies, K.E., Assman-Hulsmans,C.F.C.H. and Oostra,B.A. (1994) Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am. J. Hum. Genet., 55, 923-931.
12. Carbonell, P., Lopez, I., Gabarron, J., Bernabe, M.J., Lucas, J.M., Guitart, M., Gabau, E. and Glover, G. (1996) FRAXE mutation analysis in three Spanish families. Am. J. Med. Genet., 64, 434-440.
13. Gecz, J., Gedeon, A.K., Suhterland, G.R. and Mulley, J.C. (1996) Identificaton of the gene FMR2, associated with FRAXE mental retardation. Nature Genet., 13, 105-108.
14. Gu, Y., Shen, Y., Gibbs, R.A. and Nelson, D.L. (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genet., 13, 109-113.
15. Gedeon, A.K., Keinanen, M., Ades, L.C., Kaariainen, H., Gecz, J., Baker, E., Sutherland, G.R. and Mulley, J.C. (1995) Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am. J. Hum. Genet., 56, 907-914.
16. Chakrabarti, L., Knight, S.J.L., Flannery, A.V. and Davies, K.E. (1996) A candidate gene for mild mental handicap at the FRAXE fragile site. Hum. Mol. Genet., 5, 275-282.
17. Meadows, K.L., Pettay, D., Newman, J., Hersey, J., Ashley, A.E. and Sherman, S.L. (1996) Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am. J. Med. Genet., 64, 428-433.
18. Murray, A., Youings, S., Dennis, N., Latsky, L., Lineham, P., McKechnic, N., Macpherson, J., Pound, M. and Jacobs, P. (1996) Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum. Mol. Genet., 5, 727-735.
19. Knight, S.J.L., Ritchie, R.J., Chakrabarti, L., Cros, G., Taylor, G.R., Mueller, R.F., Hurst, J., Paterson, J., Yates, J.R.W., Dow, D.J. and Davies, K.E. (1996) A study of FRAXE in mentally retarded individuals refered for fragile X syndrome (FRAXA) testing in the United Kingdom. Am. J. Hum. Genet., 58, 906-913.
20. Holden, J.J.A., Julien-Inalsingh, C., Chalifoux, M., Wing, M., Scott, E., Fidler, K., Swift, I., Maidment, B., Knight, S.L.J., Davies, K.E. and White, B.N. (1996) Trinucleotide repeat expansion in the FRAXE locus is not Common among institutionalized individuals with non-Specific developmental disabilities. Am. J. Med. Genet., 64, 420-423.
21. Biancalana, V., Taine, L., Bouix, J.-C., Finck, S., Chauvin, A., De Verneuil, H., Knight, S.J.L., Stoll, C., Lacombe, D. and Mandel, J.-L. (1996) Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am. J. Hum. Genet., 59, 847-854.
22. Brown, W.T. (1996) The FRAXE syndrome: is it time for routine screening? Am. J. Hum. Genet., 58, 903-905.
23. Kalatzis, V. (1991) Mapping of contiguous segments of DNA using yeast artificial chromosomes in the region distal to the fragile X. Honours thesis, The University of Adelaide, Adelaide, South Australia.
24. Munroe, D.J., Haas, M., Bric, E., Whitton, T., Aburatani, H., Hunter, K., Ward, D. and Housman, D.E. (1994) IRE-bubble PCR: a rapid method for efficient and representative amplification of human genomic DNA sequences from complex sources. Genomics, 19, 506-514.
25. Fichant, G.A. (1992) Constraints acting on the exon positions of the splice site sequences and local amino acid composition of the protein. Hum. Mol. Genet., 1, 259-267.
26. Ma, C. and Staudt, L.M. (1996) LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias. Blood, 87, 734-745.
27. Nakamura, T., Alder, H., Gu, Y., Prasad, R., Canaani, O., Kamada, N., Gale, R.P., Lange, B., Crist, W.M., Nowell, P.C., Croce, C.M. and Canaani, E. (1993) Genes on chromosomes 4, 9 and 19 involved in 11q23 abnormalities in acute leukemia share sequnce homology and/or common motifs. Proc. Natl Acad. Sci. USA, 90, 4631-4635.
28. Morrissey, J., Tkachuk, D.C., Milatovich, A., Francke,U., Link, M. and Cleary, M. (1993) A serine/proline rich protein is fused to HRX in t(4;11) acute leukemias. Blood, 81, 1124-1131.
29. Murgia, A., Polli, R., Vinanzi, C., Salis, M., Drigo, P., Artifoni, L. and Zacchello, F. (1996) Amplification of the FRAXE repeats: extreme phenotype variability? Am. J. Med. Genet., 64, 441-444.
30. Carrel, L. and Willard, H.F. (1996) An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. Am. J. Med. Genet., 64, 27-30.
31. Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. and Belmont, J.W. (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet., 51, 1229-1239.
32. Gedeon, A.K., Donnelly, A.J., Bronwyn, K., Turner, G. and Mulley, J.C. (1996) How many X-linked genes for non-specific mental retardation (MRX) are there? Am. J. Med. Genet., 64, 158-162.
33. Lubs, H.A., Chiurazzi, P., Arena, J.F., Schwartz, C., Tranehjaerg, L. and Neri, G. (1996) XLMR genes: update 1996 Am. J. Med. Genet., 64, 147-257.
34. Chomczynski, P. and Sacci, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159.
35. Lee, E.Y. and Lee, W.H. (1986) Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Proc. Natl Acad. Sci. USA. 83, 6337-6341.