title: Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11.
abstract: Nup98 is an important component of the nuclear pore complex (NPC) and also a rare but recurrent target for chromosomal translocation in leukaemogenesis. Nup98 contains multiple cohesive Gly-Leu-Phe-Gly (GLFG) repeats that are critical notably for the formation of intranuclear GLFG bodies. Previous studies have reported the existence of GLFG bodies in cells overexpressing exogenous Nup98 or in a HeLa subline (HeLa-C) expressing an unusual elevated amount of endogenous Nup98. Here, we have analysed the presence of Nup98-containing bodies in several human cell lines. We found that HEp-2, another HeLa subline, contains GLFG bodies that are distinct from those identified in HeLa-C. Rapid amplification of cDNA ends (RACE) revealed that HEp-2 cells express additional truncated forms of Nup98 fused to a non-coding region of chromosome 11q22.1. Cytogenetic analyses using FISH and array-CGH further revealed chromosomal rearrangements that were distinct from those observed in leukaemic cells. Indeed, HEp-2 cells feature a massive amplification of juxtaposed NUP98 and 11q22.1 loci on a chromosome marker derived from chromosome 3. Unexpectedly, minor co-amplifications of NUP98 and 11q22.1 loci were also observed in other HeLa sublines, but on rearranged chromosomes 11. Altogether, this study reveals that distinct genomic rearrangements affecting NUP98 are associated with the formation of GLFG bodies in specific HeLa sublines.
authors.affiliation: Service de cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.
authors.forename: Serge
authors.initials: S
authors.lastname: Romana
authors.affiliation: Service de cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford-Weiss
authors.affiliation: Service de cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Lapierre
authors.affiliation: Institut Jacques Monod, UMR7592 CNRS-Université Paris Diderot, Sorbonne Paris Cité, F-75205, Paris, France. valerie.doye@ijm.fr.
authors.forename: Valérie
authors.initials: V
authors.lastname: Doye
authors.affiliation: Institut Jacques Monod, UMR7592 CNRS-Université Paris Diderot, Sorbonne Paris Cité, F-75205, Paris, France. marie-claude.geoffroy@ijm.fr.
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Geoffroy
mesh_terms: D018938:Caco-2 Cells; D045744:Cell Line, Tumor; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005784:Gene Amplification / Q000235:genetics; D006367:HeLa Cells; D056945:Hep G2 Cells; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007938:Leukemia / Q000235:genetics; D028861:Nuclear Pore Complex Proteins / Q000235:genetics* / Q000378:metabolism; D020449:Repetitive Sequences, Amino Acid / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human
keywords: Homogeneously staining region; Leukaemia; Nucleoporin; Nup98