Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements

Human Molecular Genetics

Volumn 5, Issue 8, 1996, Pages 1163-1169

  Flint, J ^a   Rochette, J ^b   Craddock, C F ^a   Dode C ^c   Vignes, B ^d   Horsley, S W ^a   Kearney, L ^a   Buckle, V J ^a   Ayyub, H ^a   Higgs, D R ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b Pediat I et Lab de Genetique   (France)

^c INSTITUT PASTEUR   (France)

^d Hopital de Montmorency   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ALU SEQUENCE; ARTICLE; CHROMOSOME 16P; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; FEMALE; HUMAN; HUMAN CELL; MALE; MOLECULAR STABILITY; PRIORITY JOURNAL; TELOMERE;

EID: 10144238531     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.8.1163     Document Type: Article

References (23)

1. Blackburn, E.H. (1991) Nature 350, 569-573.
2. Zakian, V.A. (1995) Science 270, 1601-1607.
3. Brown, W.R.A., MacKinnon, M.J., Villasante, A., Spurr, N., Buckle, V.J. and Dobson, M.J. (1990) Cell 63, 119-132.
4. Meltzer, P.S., Guan, X.-Y. and Trent, J.M. (1993) Nature Genet. 4, 252-255.
5. Brown, W.R.A. (1992) Current Biology 2, 127-129.
6. Higgs, D.R. (1993) In D. R. Higgs and D. J. Weatherall (eds.) Bailliere's Clinical Haematology. International Practice and Research: The Haemoglobinopathies, Bailliere Tindall, London.
7. Wilkie, A.O.M., Higgs, D.R., Rack, K.A., Buckle, V.J., Spurr, N.K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W.R.A. and Harris, P.C. (1991) Cell 64, 595-606.
8. Higgs, D.R., Wood, W.G., Jarman, A.P., Sharpe, J., Lida, J., Pretorius, I.-M. and Ayyub, H. (1990) Genes Dev. 4, 1588-1601.
9. Wilkie, A.O.M., Lamb, J., Harris, P.C., Finney, R.D. and Higgs, D.R. (1990) Nature 346, 868-871.
10. Flint, J., Craddock, C.F., Villegas, A., Bentley, D.P., Williams, H.J., Galanello, R., Cao, A., Wood, W.G., Ayyub, H. and Higgs, D.R. (1994) Am. J. Hum. Genet. 55, 505-512.
11. Lamb, J., Harris, P.C., Wilkie, A.O.M., Wood, W.G., Dauwerse, J.G. and Higgs, D.R. (1993) Am. J. Hum. Genet. 52, 668-676.
12. Michelson, A.M. and Orkin, S.H. (1983) J. Biol. Chem. 258, 15245.
13. Hatton, C., Wilkie, A.O.M., Drysdale, H.C., Wood, W.G., Vickers, M.A., Sharpe, J., Ayyub, H., Pretorius, I.-M., Buckle, V.J. and Higgs, D.R. (1990) Blood 76, 221-227.
14. Jarman, A.P. and Higgs, D.R. (1988) Am. J. Hum. Genet. 42, 8-16.
15. Gourdon, G., Sharpe, J.A., Wells, D., Wood, W.G. and Higgs, D.R. (1994) Nucleic Acids Res. 22, 4139-4147.
16. Nicholls, R.D., Fischel-Ghodsian, N. and Higgs, D.R. (1987) Cell 49, 369-378.
17. Jurka, J. and Milosavljevic, A. (1991) J. Mol. Biol. 32, 105-121.
18. Cooper, D.N. and Krawczak, M. (1993) Human Gene Mutation, BIOS Scientific Publishers Ltd., Oxford.
19. Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T.P., Bowden, D.W., Smith, D.R., Lander, E.S., Botstein, D., Akots, G., Rediker, K.S., Gravius, T., Brown, V.A., Rising, M.B., Parker, C., Powers, J.A., Watt, D.E., Kauffman, E.R., Bricker, A., Phipps, P., Muller-Kahle, H., Fulton, T.R., Ng, S., Schumm, J.W., Braman, J.C., Knowlton, R.G., Barker, D.F., Crooks, S.M., Lincoln, S.E., Daly, M.J. and Abrahanson, J. (1987) Cell 51, 319-337.
20. Weatherall, D.J. and Clegg, J.B. (1981) The Thalassaemia Syndromes, Blackwell Scientific Publications, Oxford.
21. Weatherall, D.J., Clegg, J.B. and Naughton, M.A. (1965) Nature 208, 1061-1065.
22. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
23. Buckle, V.J. and Rack, K. (1993) In K. E. Davies (eds.) Human Genetic Diseases, IRL Press, Oxford.