caa a22 4500 397573952 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199608 xx s 000 0 eng 10.1093/hmg/5.8.1163 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.8.1163 Chromosomal Stabilisation by a Subtelomeric Rearrangement Involving Two Closely Related Alu Elements [Elektronische Daten] [J. Flint, J. Rochette, C. F. Craddock, C. Dodé, B. Vignes, S. W. Horsley, L. Kearney, V. J. Buckle, H. Ayyub, D. R. Higgs] We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to α-thalassaemia by deleting the major, remote regulatory element controlling α-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only ∼ 105 kb from the 16p subtelomeric region. The broken chromosome has been stabilised with a newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element of the Sx subfamily. It seems most likely that this abnormal chromosome has been rescued by the mechanism of telomere capture which may reflect a more general process by which subtelomeric sequences are normally dispersed between chromosomal ends. © 1996 Oxford University Press Flint J. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Rochette J. Pediatrie I et Laboratoire de Genetique, Chu Amiens-80054, France aut Craddock C. F. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Dodé C. CNRS URA 1968, Institut Pasteur, Paris, France aut Vignes B. Hopital de Montmorency, 95160, France aut Horsley S. W. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Kearney L. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Buckle V. J. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Ayyub H. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Higgs D. R. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut Human Molecular Genetics Oxford University Press 5/8(1996-08), 1163-1169 0964-6906 5:8<1163 1996 5 hmg https://doi.org/10.1093/hmg/5.8.1163 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.8.1163 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Flint J. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 700 1- Rochette J. Pediatrie I et Laboratoire de Genetique, Chu Amiens-80054, France aut NATIONALLICENCE 700 1- Craddock C. F. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 700 1- Dodé C. CNRS URA 1968, Institut Pasteur, Paris, France aut NATIONALLICENCE 700 1- Vignes B. Hopital de Montmorency, 95160, France aut NATIONALLICENCE 700 1- Horsley S. W. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 700 1- Kearney L. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 700 1- Buckle V. J. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 700 1- Ayyub H. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 700 1- Higgs D. R. MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/8(1996-08), 1163-1169 0964-6906 5:8<1163 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford