scholarly journals A Portrait of Ribosomal DNA Contacts with Hi-C Reveals 5S and 45S rDNA Anchoring Points in the Folded Human Genome

2016 ◽  
Vol 8 (11) ◽  
pp. 3545-3558 ◽  
Author(s):  
Shoukai Yu ◽  
Bernardo Lemos
2015 ◽  
Vol 112 (8) ◽  
pp. 2485-2490 ◽  
Author(s):  
John G. Gibbons ◽  
Alan T. Branco ◽  
Susana A. Godinho ◽  
Shoukai Yu ◽  
Bernardo Lemos

Tandemly repeated ribosomal DNA (rDNA) arrays are among the most evolutionary dynamic loci of eukaryotic genomes. The loci code for essential cellular components, yet exhibit extensive copy number (CN) variation within and between species. CN might be partly determined by the requirement of dosage balance between the 5S and 45S rDNA arrays. The arrays are nonhomologous, physically unlinked in mammals, and encode functionally interdependent RNA components of the ribosome. Here we show that the 5S and 45S rDNA arrays exhibit concerted CN variation (cCNV). Despite 5S and 45S rDNA elements residing on different chromosomes and lacking sequence similarity, cCNV between these loci is strong, evolutionarily conserved in humans and mice, and manifested across individual genotypes in natural populations and pedigrees. Finally, we observe that bisphenol A induces rapid and parallel modulation of 5S and 45S rDNA CN. Our observations reveal a novel mode of genome variation, indicate that natural selection contributed to the evolution and conservation of cCNV, and support the hypothesis that 5S CN is partly determined by the requirement of dosage balance with the 45S rDNA array. We suggest that human disease variation might be traced to disrupted rDNA dosage balance in the genome.


Genome ◽  
2001 ◽  
Vol 44 (5) ◽  
pp. 911-918 ◽  
Author(s):  
Ki-Byung Lim ◽  
Jannie Wennekes ◽  
J Hans de Jong ◽  
Evert Jacobsen ◽  
Jaap M van Tuyl

Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were obtained with the standard BSG technique revealed only few minor bands on heterologous positions of the L. longiflorum and L. rubellum chromosomes. FISH of the 5S and 45S rDNA probes on L. longiflorum metaphase complements showed overlapping signals at proximal positions of the short arms of chromosomes 4 and 7, a single 5S rDNA signal on the secondary constriction of chromosome 3, and one 45S rDNA signal adjacent to the 5S rDNA signal on the subdistal part of the long arm of chromosome 3. In L. rubellum, we observed co-localisation of the 5S and 45S rDNA sequences on the short arm of chromosomes 2 and 4 and on the long arms of chromosomes 2 and 3, and two adjacent bands on chromosome 12. Silver staining (Ag-NOR) of the nucleoli and NORs in L. longiflorum and L. rubellum yielded a highly variable number of signals in interphase nuclei and only a few faint silver deposits on the NORs of mitotic metaphase chromosomes. In preparations stained with PI and DAPI, we observed both red- and blue-fluorescing bands at different positions on the L. longiflorum and L. rubellum chromosomes. The red-fluorescing or so-called reverse PI-DAPI bands always coincided with rDNA sites, whereas the blue-fluorescing DAPI bands corresponded to C-bands. Based on these techniques, we could identify most of chromosomes of the L. longiflorum and L. rubellum karyotypes.Key words: fluorescence in situ hybridisation, FISH, 5S rDNA, 45S rDNA, C-banding, reverse PI-DAPI banding.


Hereditas ◽  
2002 ◽  
Vol 137 (1) ◽  
pp. 16-19 ◽  
Author(s):  
Y. H. HAN1 ◽  
L. J. LI1 ◽  
Y. C. SONG1 ◽  
Z. Y. LI1 ◽  
Z. Y. XIONG1 ◽  
...  

2016 ◽  
Vol 39 (2) ◽  
pp. 613-620 ◽  
Author(s):  
Juliana P. Castro ◽  
Enoque Medeiros-Neto ◽  
Gustavo Souza ◽  
Lânia I. F. Alves ◽  
Fabiane R. C. Batista ◽  
...  

2005 ◽  
Vol 96 (2) ◽  
pp. 191-200 ◽  
Author(s):  
MAGDALENA VAIO ◽  
PABLO SPERANZA ◽  
JOSÉ FRANCISCO VALLS ◽  
MARCELO GUERRA ◽  
CRISTINA MAZZELLA

Gene ◽  
2015 ◽  
Vol 572 (2) ◽  
pp. 237-242 ◽  
Author(s):  
Natalia S. Kupriyanova ◽  
Kirill K. Netchvolodov ◽  
Anastasia A. Sadova ◽  
Marina D. Cherepanova ◽  
Alexei P. Ryskov
Keyword(s):  

2021 ◽  
Vol 78 (6) ◽  
pp. 414-425
Author(s):  
Nourdine Baik ◽  
◽  
Houda Bandou ◽  
Miriam Gonzales Garcia ◽  
Elena Benavente ◽  
...  

In continuation of our previous research we carried out the karyological investigation of 53 populations of four Aegilops species (A. geniculata, A. triuncialis, A. ventricosa, and A. neglecta) sampled in different eco-geographical habitats in Algeria. The genetic variability of the chromosomal DNA loci of the same collection of Aegilops is highlighted by the Fluorescence In Situ Hybridization technique (FISH) using three probes: 5S rDNA, 45S rDNA, and repetitive DNA (pSc119.2). We found that the two rDNA loci (5S and 45S) hybridized with some chromosomes and showed a large genetic polymorphism within and between the four Aegilops species, while the repetitive DNA sequences (pSc119.2) hybridized with all chromosomes and differentiated the populations of the mountains with a humid bioclimate from the populations of the steppe regions with an arid bioclimate. However, the transposition of the physical maps of the studied loci (5S rDNA, 45S rDNA, and pSc119.2) with those of other collections revealed the existence of new loci in Aegilops from Algeria.


Phytotaxa ◽  
2018 ◽  
Vol 381 (1) ◽  
pp. 141 ◽  
Author(s):  
YAN-LI HAN ◽  
DAI-KE TIAN ◽  
NAI-FENG FU ◽  
YAN XIAO ◽  
ZONG-YUN LI ◽  
...  

The rDNA sites are useful chromosome landmarks and can provide valuable information for species identification and species relationships. In this study, we investigated the distribution of 5S and 45S rDNA sites in 29 species of Begonia sect. Coelocentrum Irmsch. using a two-colour fluorescence in situ hybridization (FISH) technique. This is the first report of chromosomal rDNA mapping in Begonia species. The analyzed species showed considerable diversity in rDNA distribution patterns. The 45S rDNA signals are always located in terminal regions on 1−4 chromosomes, while 5S rDNA signals are mainly located at proximal regions on 2−8 chromosomes, varying from specific major signals to highly dispersed minor signals. Based on rDNA FISH patterns, most of the investigated species could be distinguished from each other and species relationships were identified. In addition, the results provided clear proof that B. huangii is of hybrid origin and the triploid B. longgangensis was allotriploid rather than autotriploid as suggested before. The data will provide a useful reference for evaluation, conservation and utilization of the natural resources of the mega-diverse genus Begonia.


Author(s):  
Hieronim Golczyk ◽  
Robert Hasterok ◽  
Marek Szklarczyk

AbstractHigh- and low-stringency FISH and base-specific fluorescence were performed on the permanent translocation heterozygote Rhoeo spathacea (2n = 12). Our results indicate that 45S rDNA arrays, rDNA-related sequences and other GC-rich DNA fraction(s) are located within the pericentromeric regions of all twelve chromosomes, usually colocalizing with the chromomycin A3-positive bands. Homogenization of the pericentromeric regions appears to result from the concerted spread of GC-rich sequences, with differential amplification likely. We found new 5S rDNA patterns, which suggest a variability in the breakpoints and in the consequent chromosome reorganizations. It was found that the large 5S rDNA locus residing on each of the 8E and 9E arms consisted of two smaller loci. On each of the two chromosome arms 3b and 4b, in addition to the major subtelomeric 5S rDNA locus, a new minor locus was found interstitially about 40% along the arm length. The arrangement of cytotogenetic landmarks and chromosome arm measurements are discussed with regard to genome repatterning in Rhoeo.


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