Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

Nature Genetics

Volumn 8, Issue 3, 1994, Pages 229-235

  Parrish, Julia E ^a   Oostra, Ben A ^b   Verkerk, Annemieke J M H ^b   Richards, C Sue ^a   Reynolds, James ^c   Spikes, Aimee S ^a   Shaffer, Lisa G ^a   Nelson, David L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c Shodair   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BASE PAIRING; CHILD; CHROMOSOME MAP; CHROMOSOME POLYMORPHISM; CHROMOSOME XQ; CLINICAL ARTICLE; DISEASE TRANSMISSION; FEMALE; FRAGILE X SYNDROME; GENE ISOLATION; GENETIC MARKER; HUMAN; MALE; MOLECULAR CLONING; PRIORITY JOURNAL; PROTEIN CONFORMATION; TANDEM REPEAT;

ALLELES; ANIMALS; BASE SEQUENCE; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; CRICETINAE; FEMALE; FRAGILE X SYNDROME; GENETIC MARKERS; HUMANS; MALE; METHYLATION; MICE; MINISATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; X CHROMOSOME;

EID: 0028099702     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1194-229     Document Type: Article

References (17)

1. Sutherland, G.R. Chromosomal fragile sites. Genet. Anal. Tech. Appl. 8, 161-166 (1991).
2. Mandel, J.-L. & Heitz, D. Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation. Curr. Op. Genet. Devel. 2, 422-430 (1992).
3. Warren, S.T. & Nelson, D.L. Advances in molecular analysis of Fragile X syndrome. J Am. med. Assoc. 271, 536-542 (1994).
4. Pieretti, M. et al. Absence of expression of the FMR-1 gene in Fragile X syndrome. Cell 66, 817-822 (1991).
5. Sutcliffe, J.S. et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. molec. Genet. 1, 397-400 (1992).
6. Knight, S.J.L. et al. Trinucleotide repeat amplification and hypemrmethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134 (1993).
7. Hirst, M.C. et al. The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum. molec. Genet. 2, 197-200 (1993).
8. Romain, D.R. & Chapman, C.J. Fragile site Xq27.3 in a family without mental retardation. Clin. Genet. 41, 33-35 (1992).
9. Nancarrow, J.K. et al. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 264, 1938-1941 (1994).
10. Wells, R.D. & Sinden, R.R. in Genome analysis: genome rearrangement and stability. (eds Davies, K.E. & Warren, ST.) 107-138 (Cold Spring Harbor Laboratory Press, New York, 1993).
11. Eichler, E.E. et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet. 8, 88-94 (1994).
12. Parrish, J.E. & D.L. Nelson Regional assignment of 19 X-linked ESTs.Hum. molec. Genet. 2, 1901-1905 (1993).
13. Sambrook, J., Fritsch, E.F. and Maniatis, T. Molecular cloning: a laboratory manual. 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).
14. Jacky, P. Fragile X and other heritable fragile sites on human chromosomes. In The ACT Cytogenetics Laboratory Manual, (ed. Barch, M.J.) 504 (1991).
15. Shaffer, L.G. et al. Molecular characterization of de novo secondary trisomy 13. Am. J. hum. Genet. (in the press) (1994).
16. Han, J.-Y., Choo, K.H.A. & Shaffer, L.G. Molecular cytogenetic characterization of 17 rob(13q14q) by fluorescence in situ hybridization, narrowing the region containing the breakpoints. Am. J. hum. Genet.(in the press) (1994).
17. Schlessinger, D., Mandel, J.-L., Monaco, A.P., Nelson, D.L. & Willard, H.F. Report of the fourth international workshop on human X chromosome mapping 1993. Cytogenet. cell Genet. 64, 148-170 (1993).