Characterization of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements
Articolo
Data di Pubblicazione:
2006
Citazione:
Characterization of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements / G. Portera, M. Venturin, A. Patrizi, E. Martinoli, P. Riva, L. Dalprà. - In: JOURNAL OF HUMAN GENETICS. - ISSN 1434-5161. - 51:1(2006), pp. 68-75.
Abstract:
Recurrent and non-recurrent chromosomal
rearrangements seem to reflect susceptibility to DNA
rearrangements due to the presence of recombinogenic
motifs in at least one partner chromosomal region.
While specific genomic motifs such as AT-rich repeats,
fragile sites and Alu repeats are often found in recurrent
translocations, the molecular mechanisms underlying
non-recurrent chromosomal rearrangements remain
largely unknown. Here, we map the breakpoint region of
a non-recurrent translocation, t(7;9)(q11.23;p24.3),
present in a healthy woman who inherited the apparently
balanced translocation from her mother and
transmitted the same rearrangement to two sons
—respectively healthy and aborted. Characterisation by
a two-step FISH analysis, first with BAC clones and
then with small locus-specific probes, restricted the
breakpoint intervals to 8–10 kb. Both regions contained
specific Alu sequences, which, together with the flanking
low copy repeat block Ac in 7q11.23, might stimulate the
translocation. We noted that, although the translocation
is non-recurrent, 7q11.23 is recurrently involved in different
chromosomal rearrangements, supporting the
hypothesis that the 7q11.23 genomic structure is prone
to recombination events
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
7q11.23; Alu sequences; Recurrent breakpoint; t(7;9)(q11.23;p24.3); Williams-Beuren region
Elenco autori:
G. Portera, M. Venturin, A. Patrizi, E. Martinoli, P. Riva, L. Dalprà
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