Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
acrocentric chromosomes
centromeric/pericentromeric regions
chromosome 18
chromosome territory
chromosome translocations
nuclear subcompartments
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 May 2021
26 May 2021
Historique:
received:
02
03
2021
revised:
21
05
2021
accepted:
24
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
22
6
2021
Statut:
epublish
Résumé
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).
Identifiants
pubmed: 34073228
pii: ijms22115637
doi: 10.3390/ijms22115637
pmc: PMC8198063
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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