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Titolo:
Molecular characterization of a myelodysplasia-associated chromosome 7 inversion
Autore:
Todd, R; Bia, B; Johnson, E; Jones, C; Cotter, F;
Indirizzi:
Barts & London Sch Med, Dept Haematol, London E1 2AD, England Barts & London Sch Med London England E1 2AD tol, London E1 2AD, England Univ Coll London, Inst Child Hlth, London, England Univ Coll London London England ondon, Inst Child Hlth, London, England Royal Infirm, Dept Paediat Haematol & Oncol, Edinburgh, Midlothian, Scotland Royal Infirm Edinburgh Midlothian Scotland inburgh, Midlothian, Scotland
Titolo Testata:
BRITISH JOURNAL OF HAEMATOLOGY
fascicolo: 1, volume: 113, anno: 2001,
pagine: 143 - 152
SICI:
0007-1048(200104)113:1<143:MCOAMC>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACUTE NONLYMPHOCYTIC LEUKEMIA; MALIGNANT MYELOID DISORDERS; LONG-ARM DELETIONS; GENOMIC BREAKPOINTS; TOPOISOMERASE-II; ALU-SEQUENCES; GENE; TRANSLOCATIONS; REGION; RECOMBINATION;
Keywords:
myelodysplasia; chromosome 7; chromosome inversion; staggered breaks; Alu-Alu deletion;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Cotter, F Barts & London Sch Med, Dept Haematol, Turner St, London E1 2AD,England Barts & London Sch Med Turner St London England E1 2AD England
Citazione:
R. Todd et al., "Molecular characterization of a myelodysplasia-associated chromosome 7 inversion", BR J HAEM, 113(1), 2001, pp. 143-152

Abstract

Chromosome 7 abnormalities are observed in a wide range of myeloid disorders, particularly myelodysplasia (MDS) and acute myeloid leukaemia (AML), Monosomy 7 and 7q deletions are the most frequent abnormalities, although translocations and inversions involving 7q also occur. The region 7q22-q34 maycontain as many as four distinct minimal regions of deletion (MDRs), whichare thought to contain one or more myeloid tumour-suppressor genes, We have defined previously the proximal breakpoint of a constitutional 7q22-q34 inversion, carried in a cell line derived from a member of a family with a history of MDS. A YAC clone spanning this breakpoint was identified. Both inversion breakpoints have now been cloned and sequenced, placing the proximal breakpoint 40 kb centromeric to the TAC2 (tachykinin 2) gene and the distal breakpoint 42 kb telomeric to the SSBP (mitochondrial single-stranded DNA-binding protein) gene. Sequence alignments revealed small (3-4 bp) duplications at the inversion breakpoints, suggesting that the mechanism of inversion involved the creation of staggered breaks and filling in of the overhanging ends. A 190-bp Alu-Alu deletion close to the distal breakpoint was also detected and may have contributed to the inversion.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 08:26:45