A candidate gene for mild mental handicap at the FRAXE fragile site

Human Molecular Genetics

Volumn 5, Issue 2, 1996, Pages 275-282

  Chakrabarti, Lisa ^a   Knight, Samantha J L ^a   Flannery, Angela V ^a,b   Davies, Kay E ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ASTRAZENECA   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FOLIC ACID; MESSENGER RNA; POLYADENYLIC ACID; TRANSCRIPTION FACTOR;

AMINO ACID SEQUENCE; AMYGDALOID NUCLEUS; ANIMAL TISSUE; ARTICLE; BRAIN; CHROMOSOME FRAGILE SITE; CHROMOSOME XQ; DNA SEQUENCE; GENE ISOLATION; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; LUNG; MENTAL DEFICIENCY; MOUSE; NONHUMAN; NORTHERN BLOTTING; PLACENTA; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; SEQUENCE HOMOLOGY; TISSUE DISTRIBUTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; BRAIN; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; CHROMOSOME MAPPING; CONSERVED SEQUENCE; DNA, COMPLEMENTARY; FRAGILE X SYNDROME; GENE LIBRARY; HUMANS; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; X CHROMOSOME;

ANIMALIA;

EID: 0030027566     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.2.275     Document Type: Article

References (48)

1. Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., et al. (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134.
2. 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.
3. Hamel, B.C.J., Smits, A.P.T., de Graaff, E., Smeets, D.F.C.M., 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.
4. Mulley, J.C., Yu, S., Loesch, D.Z., Hay, D A., Donnelly, A., Gedeon, A.K., Carbonell, P. et al. (1995) FRAXE and mental retardation. J. Med. Genet., 32, 162-169.
5. 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.
6. Flynn, G.A., Hirst, M.C., Knight, S.J.L., MacPherson, J.N., Barber, J.C.K., Flannery, A.V., Davies, K.E. and Buckle, V.J. (1993) Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J. Med. Genet., 30, 97-103.
7. Hirst ,M.C., Barnicoat, A., Flynn, G., Wang, Q., Daker, M., Buckle, V.J., Davies, K.E. and Bobrow, M. (1993) The identification of a third fragile site. FRAXF in Xq27-28 distal to both FRAXA and FRAXE. Hum. Mol. Genet., 2, 197-200.
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. Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, 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-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
10. 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.
11. Fu, Y.H., Kuhl, D.P.A., Pizzuti A , Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A. J. M. H., Holden, J. J. A., Fenwick, Jr R. G. Warren, S. T., Oostra, B. A , Nelson, D. L. and Caskey, C. T. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the sherman paradox. Cell, 67, 1-20.
12. Kremer, E.J., Pritchard, M., Lynch, M., Yu,S., Holman, K., Baker, E., Warren, S.T., Schlessinger, D , Sutherland, G.R. and Richards, R.I. (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science, 252, 1711-1718.
13. Hirst, M.C , Nakahori, Y , Knight, S.J.L., Schwartz, C. Thibodeau, S.N., Roche, A., Flint, T J., Connor, J.M., Fryns, J.-P. and Davies, K.E (1991) Genotype prediction in the fragile X syndrome. J. Med. Genet., 28, 824-829.
14. Nakahori, Y., Knight, S.J.L., Holland, J., Schwartz, C., Roche, A., Tarleton, J., Wong, S., Flint, T.J., Froster-Iskenius, U., Bentley, D., Davies, K.E. and Hirst, M.C. (1991) Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res , 19, 4355-4359.
15. Knight, S.J.L., Hirst, M C., Roche, A., Christodoulou, Z., Huson, S.M., Winter, R., Fitchett, M., McKinley, M.J., Lindenbaum, R.H., Nakahori, Y. and Davies, K.E. (1991) Molecular studies of the fragile X syndrome Am. J. Med. Genet., 43, 217-223.
16. Flannery, A.V., Hirst, M.C., Knight, S.J.L., Ritchie, R.J. and Davies, K.E. (1995) The fragile X syndrome. Biochim. et Biophys. Acta, 1271, 293-303.
17. Hansen, R.S., Gartler, S.M., Scott C.R., Chen, S-H. and Laird, C.D (1992) Methylation analysis of CGG sites in the CpG island of the human FMR-1 gene. Hum. Mol Genet., 1, 571-578.
18. Sutcliffe ,J S., Nelson, D.L,. Zhane, F, Pieretti, M., Caskey C.T. Saxe, D. and Warren, S.T. (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet , 1, 397-400.
19. Gedeon, A.K , Baker, E., Robinson, H., Partington, M.W., Gross, B., Manca, A , Korn, B., Poustka, A., Yu,S., Sutherland, G R. and Mulley, J.C. (1992) Fragile X syndrome without CCG amplification has an FMR-1 deletion. Nature Genet., 1, 341-344
20. Wöhrle, D., Kotzot, D., Hirst, M.C., Manca, A., Korn, B., Schmidt, A., Barbi, G., Rott, H.D., Poustka, A., Davies, K.E. and Steinbach, P. (1992) A microdeletion of less than 250kb, including the proximal pan of the FMR-1 gene and the fragile site, in a male with the clinical phenotype of fragile X syndrome. Am. J. Hum .Genet., 51, 299-306.
21. De Boulle, K., Verkerk, A.J., Reyniers, E., Vits, X., Hendrickx, J., Van Roy, B., Van den Bos, F., de Graaff, E., Oostra, B.A. and Willems, P.J. (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nature Genet., 3, 31-35.
22. 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.
23. Gedeon, A.K., Keinanen, M., Ades, L.C., Kaariainen, H., Gecz, J., Baker, E., Sutherland, G. and Mulley, J.C. (1995) Overlapping submicroscopic deletions inXq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am. J. Med. Genet., 56, 907-914.
24. Monaco, A.P., Neve, R., Colletti-Feener, C., Bertelson, C.J., Kurni, D.M. and Kunkel, L.M. (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature, 323, 646-650.
25. Friend, S.H., Bernards, R., Rogelj, S., Weinberg, R.A., Rapaport, J.M., Albert, D.M. and Dryja, T.P. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma andosteosarcoma. Nature, 323, 643-646.
26. Rommens, J.M., Iannuzzi, M.C., Kerem, B.S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J.L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J.R., Tsui, L.C and Collins, F.S. (1993) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245, 1059-1065.
27. Sinclair, A.H., Berta, P., Palmer, M.S., Ross, H.J., Griffiths, B.L., Smith, M.J., Frischauf, A-M., Lovell-Badge, R. and Goodfellow, P.N. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature, 346, 240-244.
28. Bird, A. (1986) CpG-rich islands and the function of DNA methylation. Nature, 321, 209-213.
29. Goodfellow, P., Banting, G., Levy, R , Povey, S., and Mc Michael, A. (1980) A human X-linked antigen defined by a monoclonal antibody. Somat. Cell Genet. 6, 777-787.
30. Domer, P.H., Fakharzadeh, S.S., Chen, C.S., Jockel, J., Johansen, L., Silverman, G.A., Kersey, J.H. and Korsmeyer, S.J. (1993) Acute mixed-lineage leukemia t(4;11)(q21;q23) generates a MLL-AF-4 fusion product. Proc. Natl. Acad. Sci. USA, 90, 7884-7888.
31. Kozak, M. (1983) Compilation and analysis of sequences upstream from the translation start site in eukaryotic mRNAs. Nucleic Acids Res., 12, 857-872.
32. Ziemi van der Poel, S., McCabe, N.R., Gill, H.J., Espinosa, R. III., Patel, Y., Harden, A., Rubinelli, P., Smith, S.D., LeBeau, M.M., Rowley, J.D. and Diaz, M.O (1991) Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias. Proc. Natl. Acad. Sci. USA, 88, 107530-10739.
33. Djabali, M., Seller, L., Parry, P., Bower, M., Young, B.D. and Evans, G.A. (1992) A trithorax-line gene is interrupted by chromosome 11q23 translocations in acute leukaemias. Nature Genet., 2, 113-118.
34. Gu, Y., Nakamura, T., Alder, H., Prasad, R., Canaani, O., Cimino, G., Croce, C.M. and Canaani, E. (1992) The t(4;11)chromosome translocation of acute human leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene. Cell, 71, 701-708.
35. Tkachuk, D.C., Kohler, S. and Cleary, M.L. (1992) Involvement of a homologue of Drosophila trithorax by 11q23 chromosomal translocations inacute leukemias. Cell, 71, 691-700.
36. Morrissey, J., Tkachuk, D.C., Milatovich, A., Francke, U., Link, M. and Cleary, M.L. (1993) A serine/proline-rich protein is fused to Hrx in t(4,11) acute leukemias. Blood, 81, 1124-1131
37. Cimino, G., Nakamura, T., Gu, Y., Canaani, O., Prasad, R., Crist, W.M., Carroll, A.J., Baer, M , Bloomfield, C.D., Norwell, P.C., Croce, C.M. and Canaani, E. (1992) An altered 11kilobase transcript in leukemic cell lines with the t(4;1)(q21;q23) chromosome translocation. Cancer Res., 52, 3811-3813.
38. McCabe, N.R., Burnett, R.C., Gill, H.J., Thirman, M.J., Mbangkollo, D., Dipiniak, M., Van Melle, E., Ziemin van der Poel, S., Rowley, J.D. and Diaz, M.O. (1992) Cloning of cDNAs of the MLL gene that detect DNA rearrangements and altered RNA transcripts in human leukemic cells with 11q23 translocations. Proc. Natl. Acad Sci. USA, 89, 11794-11798.
39. Chen, C.S., Hilden, J.M., Frestedt, J., Domer, P.H., Moore, R., Korsmeyer, S J. and Kersey, J.H. (1993) The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tisuues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia. Blood, 81, 1080-1085.
40. 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 chromosome 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. Proc. Natl. Acad. Sci. USA, 90, 4631-4635.
41. Aggleton, J.P. (1986) A description of the amygdalo-hippocampal interconnections in the macaque monkey. Exp. Brain Res., 64, 515-526.
42. Olton, D.S., Wible, C.G., Shapiro, M.L. (1986) Mnemonic theories of hippocampal function. Behav. Neurosci., 100, 852-855.
43. Squire, L.R. (1986) Mechanisms of memory. Science, 232, 1612-1619.
44. Squire, L.R. and Zola-Morgan, S. (1991) The medial temporal lobe memory system. Science, 253, 1380-1386.
45. Aggleton, J.P. (1993) The contribution of the amygdala to normal and abnormal emotional states. TINS, 16, 328-333.
46. Adolphs, R., Tranel, D., Damasio, H. and Damasio, A. (1994) Impaired recognition of emotion in facial expressions following bilateral damage to the human amygdala. Nature, 372, 669-672.
47. Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., Langdon, W.Y , Sutherland, G.R., Richards, R.I. and Tunnacliffe A. (1995) Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 Nature, 376, 145-149.
48. Feinberg, A.P. and Vogelstein, B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem., 132, 6-13.