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 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.
Flint
J
J
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
Rochette
J
J
Craddock
C F
CF
Dodé
C
C
Vignes
B
B
Horsley
S W
SW
Kearney
L
L
Buckle
V J
VJ
Ayyub
H
H
Higgs
D R
DR
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*
D017931:DNA Primers; D005914:Globins; D004247:DNA