Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Autor: Villa N; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Redaelli S; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Sala E; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Conconi D; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Romitti L; Pathology and Cytogenetics Laboratory, Clinical Pathology Department, Niguarda Ca' Granda Hospital, 20162 Milan, Italy., Manfredini E; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Roversi G; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Lavitrano M; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Rodeschini O; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Recalcati MP; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy., Piazza R; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Dalprà L; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy., Riva P; Medical Genetics Laboratory, Medical Biotechnology and Translational Medicine Department, University of Milan, 20090 Milan, Italy., Bentivegna A; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2021 May 26; Vol. 22 (11). Date of Electronic Publication: 2021 May 26.
DOI: 10.3390/ijms22115637
Abstrakt: 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).
Databáze: MEDLINE
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