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Titolo:
THE INVOLVEMENT OF ALU REPEATS IN RECOMBINATION EVENTS AT THE ALPHA-GLOBIN GENE-CLUSTER - CHARACTERIZATION OF 2 ALPHA(O)-THALASSEMIA DELETION BREAKPOINTS
Autore:
HARTEVELD KL; LOSEKOOT M; FODDE R; GIORDANO PC; BERNINI LF;
Indirizzi:
LEIDEN UNIV,MGC DEPT HUMAN GENET,WASSENAARSEWEG 72 NL-2333 AL LEIDEN NETHERLANDS
Titolo Testata:
Human genetics
fascicolo: 4, volume: 99, anno: 1997,
pagine: 528 - 534
SICI:
0340-6717(1997)99:4<528:TIOARI>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
HB-H-DISEASE; CONCERTED EVOLUTION; SPANISH FAMILY; THALASSEMIA; DNA; SEQUENCE; HOMOLOGY; HETEROGENEITY; MUTATION; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
43
Recensione:
Indirizzi per estratti:
Citazione:
K.L. Harteveld et al., "THE INVOLVEMENT OF ALU REPEATS IN RECOMBINATION EVENTS AT THE ALPHA-GLOBIN GENE-CLUSTER - CHARACTERIZATION OF 2 ALPHA(O)-THALASSEMIA DELETION BREAKPOINTS", Human genetics, 99(4), 1997, pp. 528-534

Abstract

Alu repetitive sequences are frequently involved in homologous and non-homologous recombination events in the alpha-cluster. Possible mechanisms involved in Alu-mediated recombination events are strand exchange, promoted by DNA pairing between highly homologous Alu repeats, and subsequent strand invasion. Alternatively, Alu sequences might play a more active role in recombinogenic processes in the alpha-cluster. We describe a novel 33-kb alpha degrees-thalassaemia deletion --(DUTCH) encompassing the alpha- and zeta-globin genes and pseudogenes in a kindred of Dutch-Caucasian origin. This deletion appears similar, althoughnot identical, to the previously described --(MEDII) deletion. Cloning and sequencing of both the --(DUTCH) and --(MEDII) deletion breakpoints clearly indicate that the mechanism leading to these alpha degrees-thalassaemia deletions involves misalignment between the highly homologous tandemly arranged Alu repeats at both parental sides, which are normally 33 kb apart. Comparison of breakpoint positions along the Aluconsensus sequence indicate the involvement of a 26-bp core sequence in two out of five alpha degrees-thalassaemia deletions. This sequencehas been identified by others as a possible hotspot of recombination. These findings favour the idea that Alu repeats stimulate recombination events not only by homologous pairing, but also by providing binding sites for recombinogenic proteins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 13:55:51