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Updated: Aug 7, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
The boundary of macaque rDNA is constituted by low-copy sequences conserved during evolution
B Bodega1, M F Cardone, M Rocchi
1Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, 20133 Milano, Italy. beatrice.bodega@unimi.it
The DNA sequences flanking ribosomal DNA (rDNA) in macaques share similarities with human sequences, suggesting conserved organization across primate evolution. Despite modifications, the overall sequence features near the nucleolar organizing region (NOR) remain conserved.
Area of Science:
- Genomics
- Evolutionary Biology
- Molecular Genetics
Background:
- Ribosomal DNA (rDNA) arrays are crucial for cell function and are organized in specific chromosomal regions.
- The flanking sequences of rDNA arrays can provide insights into genome evolution and chromosome structure.
- Previous studies have characterized rDNA organization in various species, but comparative analyses of flanking regions are ongoing.
Purpose of the Study:
- To investigate the sequence organization flanking the rDNA array in Macaca mulatta (macaque).
- To compare the rDNA-flanking sequences in macaques with those in other Old World monkeys and apes, including humans.
- To understand the evolutionary dynamics and conservation of these genomic regions.
Main Methods:
- Molecular analysis of DNA sequences from Macaca mulatta, Cercopithecus aethiops, Presbytis cristata, and Hylobates lar.
- Comparative genomics to identify similarities and differences in flanking sequences.
- Analysis of human acrocentric chromosomes to assess evolutionary remodeling.
Main Results:
- The rDNA array in Macaca mulatta is flanked by a composite region containing sequences homologous to human Yp11.2, 4q35.2, and 10p15.3.
- This complex organization appears to be shared among Old World monkeys and lesser apes.
- Evolutionary events led to amplification and spreading of unique DNA regions near rDNA, particularly on the p arm of acrocentric chromosomes.
- Human rDNA boundaries show remodeling, with partial resemblance to macaque 4q35.2 duplications but significant differences in Yp11.2 and absence of 10p15.3 sequences.
Conclusions:
- The sequence organization flanking rDNA arrays in primates, particularly Old World monkeys and lesser apes, exhibits conserved features despite evolutionary modifications.
- The preferential location of these sequences near the nucleolar organizing region (NOR) has been maintained throughout primate evolution.
- Comparative analysis reveals both conserved patterns and species-specific remodeling events in the genomic architecture surrounding rDNA loci.
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