The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p
Articolo
Data di Pubblicazione:
2001
Citazione:
The structure of duplications on human acrocentric chromosome short arms derived
by the analysis of 15p / I. Piccini, L. Ballarati, C. Bassi, M. Rocchi, A. Marozzi, E. Ginelli, R. Meneveri. - In: HUMAN GENETICS. - ISSN 0340-6717. - 108:6(2001 Jun), pp. 467-477.
Abstract:
We report the molecular analysis of a 130-kb DNA region containing a junction
between beta and non-beta satellite DNA from chromosome 15p. The genomic region
is characterized by beta satellite blocks intermingled with variants of the D4Z4
repeat, and duplicons from 4q24 and 4q35. Besides the p-arm of acrocentric
chromosomes, the duplicons showed a wide genomespread involving pericentromeric,
sub-telomeric, and interstitial regions. In this regard, the paralogous
sequences were characterized by a high similarity index (96%), thus indicating a
recent transposition during the evolution. The acrocentrics differedwith regard
to the location of the 4q24 paralogous region, since it mapped on the p-arm of
chromosomes 13-15 and 21, but only on 22q11.2. Conversely, the 4q35 duplication
marked the p-arm of all the acrocentrics. In different individuals, the short
arm of acrocentric chromosomes revealed a great variability of sequence
representation and location at p11 and/or p13 for both the 4q24 and 4q35
duplications. The studied genomic region from chromosome 15p, of which a contig
of approximately 200 kb has been derived, could lead to more detailed
investigations into the sequence organization and possible biological function
of chromosome regions that are located close to the rDNA array
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
I. Piccini, L. Ballarati, C. Bassi, M. Rocchi, A. Marozzi, E. Ginelli, R. Meneveri
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