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Gene Review

FRAXE  -  fragile site, folic acid type, rare,...

Homo sapiens

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Disease relevance of FRAXE


Psychiatry related information on FRAXE


High impact information on FRAXE


Biological context of FRAXE


Anatomical context of FRAXE

  • We confirmed that the replication of the fragile-X E site (FRAXE) in human chromosomal band Xq28 occurs at six hours into the eight-hour S phase of normal human fibroblasts [14].

Associations of FRAXE with chemical compounds

  • Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE [15].

Other interactions of FRAXE


Analytical, diagnostic and therapeutic context of FRAXE


  1. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Ritchie, R.J., Knight, S.J., Hirst, M.C., Grewal, P.K., Bobrow, M., Cross, G.S., Davies, K.E. Hum. Mol. Genet. (1994) [Pubmed]
  2. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Strelnikov, V., Nemtsova, M., Chesnokova, G., Kuleshov, N., Zaletayev, D. Hum. Mutat. (1999) [Pubmed]
  3. FRAXE intermediate alleles are associated with Parkinson's disease. Annesi, G., Nicoletti, G., Tarantino, P., Cutuli, N., Annesi, F., Marco, E.V., Zappia, M., Morgante, L., Arabia, G., Pugliese, P., Condino, F., Carrideo, S., Civitelli, D., Caracciolo, M., Romeo, N., Spadafora, P., Candiano, I.C., Quattrone, A. Neurosci. Lett. (2004) [Pubmed]
  4. FRAXE expansion is not a common etiological factor among developmentally delayed males. Allingham-Hawkins, D.J., Ray, P.N. Am. J. Hum. Genet. (1995) [Pubmed]
  5. Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. Holden, J.J., Julien-Inalsingh, C., Chalifoux, M., Wing, M., Scott, E., Fidler, K., Swift, I., Maidment, B., Knight, S.J., Davies, K.E., White, B.N. Am. J. Med. Genet. (1996) [Pubmed]
  6. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Hamel, B.C., Smits, A.P., de Graaff, E., Smeets, D.F., Schoute, F., Eussen, B.H., Knight, S.J., Davies, K.E., Assman-Hulsmans, C.F., Oostra, B.A. Am. J. Hum. Genet. (1994) [Pubmed]
  7. FRAXA and FRAXE: the results of a five year survey. Youings, S.A., Murray, A., Dennis, N., Ennis, S., Lewis, C., McKechnie, N., Pound, M., Sharrock, A., Jacobs, P. J. Med. Genet. (2000) [Pubmed]
  8. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Knight, S.J., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E. Cell (1993) [Pubmed]
  9. Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Subramanian, P.S., Nelson, D.L., Chinault, A.C. Am. J. Hum. Genet. (1996) [Pubmed]
  10. 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. Biancalana, V., Taine, L., Bouix, J.C., Finck, S., Chauvin, A., De Verneuil, H., Knight, S.J., Stoll, C., Lacombe, D., Mandel, J.L. Am. J. Hum. Genet. (1996) [Pubmed]
  11. The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. Hirst, M.C., Barnicoat, A., Flynn, G., Wang, Q., Daker, M., Buckle, V.J., Davies, K.E., Bobrow, M. Hum. Mol. Genet. (1993) [Pubmed]
  12. FRAXE mutation in mentally retarded patients using the OxE18 probe. Mulatinho, M.V., Llerena, J.C., Pimentel, M.M. Int. J. Mol. Med. (2000) [Pubmed]
  13. FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations. Gécz, J. J. Med. Genet. (2000) [Pubmed]
  14. A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene. Chastain, P.D., Cohen, S.M., Brylawski, B.P., Cordeiro-Stone, M., Kaufman, D.G. Cell Cycle (2006) [Pubmed]
  15. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. Flynn, G.A., Hirst, M.C., Knight, S.J., Macpherson, J.N., Barber, J.C., Flannery, A.V., Davies, K.E., Buckle, V.J. J. Med. Genet. (1993) [Pubmed]
  16. Studies of FRAXA and FRAXE in women with premature ovarian failure. Murray, A., Webb, J., Grimley, S., Conway, G., Jacobs, P. J. Med. Genet. (1998) [Pubmed]
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