title: Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.
abstract: 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.
authors.affiliation: MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
authors.forename: J
authors.initials: J
authors.lastname: Flint
authors.forename: J
authors.initials: J
authors.lastname: Rochette
authors.forename: C F
authors.initials: CF
authors.lastname: Craddock
authors.forename: C
authors.initials: C
authors.lastname: Dodé
authors.forename: B
authors.initials: B
authors.lastname: Vignes
authors.forename: S W
authors.initials: SW
authors.lastname: Horsley
authors.forename: L
authors.initials: L
authors.lastname: Kearney
authors.forename: V J
authors.initials: VJ
authors.lastname: Buckle
authors.forename: H
authors.initials: H
authors.lastname: Ayyub
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics* / Q000648:ultrastructure; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement; D005838:Genotype; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D012689:Sequence Homology, Nucleic Acid; D016615:Telomere / Q000235:genetics / Q000648:ultrastructure; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005914:Globins; D004247:DNA