Alterations to Genome Organisation in Stem Cells, Their Differentiation and Associated Diseases

Bridger, Joanna M.; Pereira, Rita Torres; Pina, Cristina; Tosi, Sabrina; Lewis, Annabelle

doi:10.1007/978-3-031-06573-6_3

Cited by 2 publications

(1 citation statement)

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“…It is now well established that chromosomal rearrangements can disturb the arrangement of the genome within the nucleus [9][10][11]. From the observation of non-random occupancy of chromosomes into territories and the transcriptionally dependent localization of individual genes [12][13][14], an increasing number of studies are focusing on the link between nuclear disturbance and the development of disease [9,15,16].…”

Section: Introductionmentioning

confidence: 99%

Alterations in Genome Organization in Lymphoma Cell Nuclei due to the Presence of the t(14;18) Translocation

Garimberti,

Federico,

Ragusa

et al. 2024

IJMS

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Chromosomal rearrangements have been shown to alter genome organization, consequently having an impact on gene expression. Studies on certain types of leukemia have shown that gene expression can be exacerbated by the altered nuclear positioning of fusion genes arising from chromosomal translocations. However, studies on lymphoma have been, so far, very limited. The scope of this study was to explore genome organization in lymphoma cells carrying the t(14;18)(q32;q21) rearrangement known to results in over-expression of the BCL2 gene. In order to achieve this aim, we used fluorescence in situ hybridization to carefully map the positioning of whole chromosome territories and individual genes involved in translocation in the lymphoma-derived cell line Pfeiffer. Our data show that, although there is no obvious alteration in the positioning of the whole chromosome territories, the translocated genes may take the nuclear positioning of either of the wild-type genes. Furthermore, the BCL2 gene was looping out in a proportion of nuclei with the t(14;18) translocation but not in control nuclei without the translocation, indicating that chromosome looping may be an essential mechanism for BCL2 expression in lymphoma cells.

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