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Titolo:
Satellite III sequences on 14p and their relevance to Robertsonian translocation formation
Autore:
Bandyopadhyay, R; Berend, SA; Page, SL; Choo, KHA; Shaffer, LG;
Indirizzi:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor CollMed Houston TX USA 77030 & Human Genet, Houston, TX 77030 USA Royal Childrens Hosp, Murdoch Childrens Res Inst, Murdoch, WA, Australia Royal Childrens Hosp Murdoch WA Australia s Inst, Murdoch, WA, Australia
Titolo Testata:
CHROMOSOME RESEARCH
fascicolo: 3, volume: 9, anno: 2001,
pagine: 235 - 242
SICI:
0967-3849(200104)9:3<235:SISO1A>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN ACROCENTRIC CHROMOSOMES; DNA-SEQUENCES; SUBFAMILY; OLIGONUCLEOTIDES; IDENTIFICATION; REARRANGEMENTS; AMPLIFICATION; HYBRIDIZATION; LOCALIZATION; BREAKPOINTS;
Keywords:
acrocentric chromosome; fluorescence in-situ hybridization; non-disjunction; repetitive DNA; Robertsonian translocation; satellite III DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Shaffer, LG Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABaylor Coll Med Houston TX USA 77030 t, Houston, TX 77030 USA
Citazione:
R. Bandyopadhyay et al., "Satellite III sequences on 14p and their relevance to Robertsonian translocation formation", CHROMOS RES, 9(3), 2001, pp. 235-242

Abstract

Robertsonian translocations (ROBs) are the most common rearrangements in humans, contributing significantly to genetic imbalance, fetal wastage, mental retardation and birth defects. Rob(14q21q) and rob(13q14q), which are formed predominantly during female meiosis, comprise the majority (similar to85%) of all ROBs. Previous studies have shown that the breakpoints are consistently located within specific regions of the proximal short arms of chromosomes 13, 14, and 21. The high prevalence of these translocations, the consistent breakpoints found, and the fact that roughly 50% of cases occur sporadically suggest that the sequences at or near the breakpoints confer susceptibility to chromosome rearrangement and that the rearrangements occur through a specific mechanism. To investigate this hypothesis, we developed hamster-human somatic cell hybrids derived from de novo rob(14q21q) patients that contained the translocated chromosome segregated from the other acrocentric chromosomes. We determined the physical order of five satellite IIIsubfamilies on 14p, and investigated their involvement in formation of these de novo translocations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 23:31:37