Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.
We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only approximately 1...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1996
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| _version_ | 1826287674776879104 |
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| author | Flint, J Rochette, J Craddock, C Dodé, C Vignes, B Horsley, S Kearney, L Buckle, V Ayyub, H Higgs, D |
| author_facet | Flint, J Rochette, J Craddock, C Dodé, C Vignes, B Horsley, S Kearney, L Buckle, V Ayyub, H Higgs, D |
| author_sort | Flint, J |
| collection | OXFORD |
| description | We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only approximately 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. |
| first_indexed | 2024-03-07T02:02:12Z |
| format | Journal article |
| id | oxford-uuid:9dbeaf65-215b-4ad7-9a58-424806b99429 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:02:12Z |
| publishDate | 1996 |
| record_format | dspace |
| spelling | oxford-uuid:9dbeaf65-215b-4ad7-9a58-424806b994292022-03-27T00:45:15ZChromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:9dbeaf65-215b-4ad7-9a58-424806b99429EnglishSymplectic Elements at Oxford1996Flint, JRochette, JCraddock, CDodé, CVignes, BHorsley, SKearney, LBuckle, VAyyub, HHiggs, DWe have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only approximately 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. |
| spellingShingle | Flint, J Rochette, J Craddock, C Dodé, C Vignes, B Horsley, S Kearney, L Buckle, V Ayyub, H Higgs, D Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. |
| title | Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. |
| title_full | Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. |
| title_fullStr | Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. |
| title_full_unstemmed | Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. |
| title_short | Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. |
| title_sort | chromosomal stabilisation by a subtelomeric rearrangement involving two closely related alu elements |
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