caa a22 4500 606190724 CHVBK 20210128100856.0 cr unu---uuuuu 210128e20150601xx s 000 0 eng 10.1007/s10577-015-9467-7 doi (NATIONALLICENCE)springer-10.1007/s10577-015-9467-7 Expression of the DYRK1A gene correlates with its 3D positioning in the interphase nucleus of Down syndrome cells [Elektronische Daten] [Nerea Paz, Izaskun Felipe-Blanco, Félix Royo, Amaia Zabala, Isabel Guerra-Merino, África García-Orad, José Zugaza, Luis Parada] Down syndrome is a common birth defect caused by trisomy of chromosome 21. Chromosomes occupy distinct territories in interphase nuclei, and their distribution within the nuclear space is nonrandom. In humans with Down syndrome, two chromosomes 21 frequently localize proximal to one another and distant from the third chromosome. Here, we investigated the nuclear organization of DYRK1A and SOD1, two genes mapping to chromosome 21 that greatly contribute to the pathology. We found that DYRK1A conserves its central positioning between normal and trisomic cells, whereas SOD1 adopts more peripheral distribution in trisomic cells. We also found that the relative position of these genes with respect to each other varies among the different copies of chromosome territories 21 within a cell, and that this distinct distribution is associated with differences in their expression levels. All together, our results may explain, at least in part, the difference in the expression level of these two genes implicated in the pathogenesis of Down syndrome. Springer Science+Business Media Dordrecht, 2015 Down syndrome nationallicence DYRK1A gene nationallicence Gene expression nationallicence Nuclear organization nationallicence CT : Chromosome territories nationallicence DAPI : 4',6-Diamidino-2-phenylindole nationallicence DNA : Deoxyribonucleic acid nationallicence DS : Down syndrome nationallicence DSCR : Down syndrome critical region nationallicence FISH : Fluorescence in situ hybridization nationallicence Immuno-FISH : Indirect immunofluorescence combined with FISH nationallicence NOR : Nucleolar organizing region nationallicence PCR : Polymerase chain reaction nationallicence PBS : Phosphate-buffered saline nationallicence SSC : Saline-sodium citrate nationallicence Paz Nerea GSI Helmholtzzentrum für Schwerionenforschung, Biophysics Department, Planckstraβe 1, 64291, Darmstadt, Germany aut Felipe-Blanco Izaskun Department of Pathology, University Hospital of Araba, Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain aut Royo Félix CIC BioGUNE-CIBERehd, Bizkaia Technology Park, Bg 801 A, Derio, Spain aut Zabala Amaia CIC BioGUNE-CIBERehd, Bizkaia Technology Park, Bg 801 A, Derio, Spain aut Guerra-Merino Isabel Department of Pathology, University Hospital of Araba, Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain aut García-Orad África Department of Genetics, Physic Anthropology and Animal Physiology, Faculty of Medicine and Dentistry, University of the Basque Country, Barrio Sarriena s/n, 48940, Leioa, Spain aut Zugaza José Department of Genetics, Physic Anthropology and Animal Physiology, Faculty of Medicine and Dentistry, University of the Basque Country, Barrio Sarriena s/n, 48940, Leioa, Spain aut Parada Luis Institute of Experimental Pathology, UNSa-CONICET, Ave. Bolivia 5150, 4400, Salta, Argentina aut Chromosome Research Springer Netherlands 23/2(2015-06-01), 285-298 0967-3849 23:2<285 2015 23 10577 https://doi.org/10.1007/s10577-015-9467-7 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10577-015-9467-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Paz Nerea GSI Helmholtzzentrum für Schwerionenforschung, Biophysics Department, Planckstraβe 1, 64291, Darmstadt, Germany aut NATIONALLICENCE 700 1- Felipe-Blanco Izaskun Department of Pathology, University Hospital of Araba, Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain aut NATIONALLICENCE 700 1- Royo Félix CIC BioGUNE-CIBERehd, Bizkaia Technology Park, Bg 801 A, Derio, Spain aut NATIONALLICENCE 700 1- Zabala Amaia CIC BioGUNE-CIBERehd, Bizkaia Technology Park, Bg 801 A, Derio, Spain aut NATIONALLICENCE 700 1- Guerra-Merino Isabel Department of Pathology, University Hospital of Araba, Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain aut NATIONALLICENCE 700 1- García-Orad África Department of Genetics, Physic Anthropology and Animal Physiology, Faculty of Medicine and Dentistry, University of the Basque Country, Barrio Sarriena s/n, 48940, Leioa, Spain aut NATIONALLICENCE 700 1- Zugaza José Department of Genetics, Physic Anthropology and Animal Physiology, Faculty of Medicine and Dentistry, University of the Basque Country, Barrio Sarriena s/n, 48940, Leioa, Spain aut NATIONALLICENCE 700 1- Parada Luis Institute of Experimental Pathology, UNSa-CONICET, Ave. Bolivia 5150, 4400, Salta, Argentina aut NATIONALLICENCE 773 0- Chromosome Research Springer Netherlands 23/2(2015-06-01), 285-298 0967-3849 23:2<285 2015 23 10577