Data di Pubblicazione:
2021
Citazione:
Human chromosome 18 and acrocentrics : a dangerous liaison / N. Villa, S. Redaelli, E. Sala, D. Conconi, L. Romitti, E. Manfredini, F. Crosti, G. Roversi, M. Lavitrano, O. Rodeschini, M. Paola Recalcati, P. Rocco, L. Dalprà, P.V. Riva, A. Bentivegna. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1661-6596. - 22:11(2021 Jun), pp. 5637.1-5637.17. [10.3390/ijms22115637]
Abstract:
The presence of thousands of repetitive sequences makes the centromere a fragile region subject to breakage. In this study we collected 31 cases of rearrangements of chromosome 18, of which 16 involved an acrocentric chromosome, during genetic screening done in three centers. We noticed a significant enrichment of reciprocal translocations between the centromere of chromosome 18 and the centromeric or pericentromeric regions of the acrocentrics. We describe five cases with translocation between chromosome 18 and an acrocentric chromosome, and one case involving the common telomere regions of chromosomes 18p and 22p. In addition, we bring evidence to support the hypothesis that chromosome 18 preferentially recombines with acrocentrics: (i) the presence on 18p11.21 of segmental duplications highly homologous to acrocentrics, that can justify a NAHR mechanism; (ii) the observation by 2D-FISH of the behavior of the centromeric regions of 18 respect to the centromeric regions of acrocentrics in the nuclei of normal subjects; (iii) the contact analysis among these regions on published Hi-C data from the human lymphoblastoid cell line (GM12878).
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
acrocentric chromosomes; chromosome 18; centromeric/pericentromeric regions; chromosome translocations; chromosome territory; nuclear subcompartments
Elenco autori:
N. Villa, S. Redaelli, E. Sala, D. Conconi, L. Romitti, E. Manfredini, F. Crosti, G. Roversi, M. Lavitrano, O. Rodeschini, M. Paola Recalcati, P. Rocco, L. Dalprà, P.V. Riva, A. Bentivegna
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