Human Chromosome 18 and Acrocentrics: A Dangerous Liaison

International Journal of Molecular Sciences

Ornella Rodeschini¹  MariaPaola Recalcati¹  Emanuela Manfredini¹  Nicoletta Villa²  Francesca Crosti²  Elena Sala²  Paola Riva³  Lorenza Romitti⁴  Serena Redaelli⁵  Marialuisa Lavitrano⁵  Angela Bentivegna⁵  Donatella Conconi⁵  Rocco Piazza⁵  Gaia Roversi⁵  Leda Dalprà⁵ 

[1] Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy;Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy;Medical Genetics Laboratory, Medical Biotechnology and Translational Medicine Department, University of Milan, 20090 Milan, Italy;Pathology and Cytogenetics Laboratory, Clinical Pathology Department, Niguarda Ca’ Granda Hospital, 20162 Milan, Italy;School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy;

关键词: acrocentric chromosomes;    chromosome 18;    centromeric/pericentromeric regions;    chromosome translocations;    chromosome territory;    nuclear subcompartments;   

DOI  :  10.3390/ijms22115637

来源: DOAJ

【 摘 要 】

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).

【 授权许可】

Unknown