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).

Villa, N., Redaelli, S., Sala, E., Conconi, D., Romitti, L., Manfredini, E., et al. (2021). Human chromosome 18 and acrocentrics: A dangerous liaison. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(11) [10.3390/ijms22115637].

Human chromosome 18 and acrocentrics: A dangerous liaison

Villa N.
Primo
;
Redaelli S.
Secondo
;
Conconi D.
;
Crosti F.;Roversi G.;Lavitrano M.;Piazza R.;Bentivegna A.
Ultimo
2021

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).
Articolo in rivista - Articolo scientifico
Acrocentric chromosomes; Centromeric/pericentromeric regions; Chromosome 18; Chromosome territory; Chromosome translocations; Nuclear subcompartments;
English
26-mag-2021
2021
22
11
5637
open
Villa, N., Redaelli, S., Sala, E., Conconi, D., Romitti, L., Manfredini, E., et al. (2021). Human chromosome 18 and acrocentrics: A dangerous liaison. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(11) [10.3390/ijms22115637].
File in questo prodotto:
File Dimensione Formato  
ijms-22-05637.pdf

accesso aperto

Tipologia di allegato: Publisher’s Version (Version of Record, VoR)
Dimensione 4.38 MB
Formato Adobe PDF
4.38 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/318945
Citazioni
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
Social impact