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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
Abstract:
In Macaca mulatta, the single rDNA array is flanked by a patchwork of sequences including subregions of human Yp11.2, 4q35.2, and 10p15.3. This composite DNA region is characterized by unique or low-copy sequences, resembling a potentially transcribed region. The analysis of Cercopithecus aethiops, Presbytis cristata, and Hylobates lar suggests that this complex sequence organization could be shared by Old World monkey and lesser ape species. After the lesser apes/great apes divergence, the unique or nonduplicated DNA region underwent amplification and spreading, preferentially marking the p arm of acrocentric chromosomes bearing the rDNA. The molecular analysis of human acrocentric chromosomes revealed some extent of remodeling of the rDNA boundary: near the human NOR, a large 4q35.2 duplication partially resembles that found in MMU; conversely, infrequently represented Yp11.2 sequences totally differed from those of the macaque, and 10p15.3 sequences were lacking. Thus, although evolutionary events modified the sequence organization of the MMU rDNA boundary, its overall sequence feature and the preferential location in vicinity to the NOR have been conserved.
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