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Updated: Apr 15, 2026

Genome-wide Purification of Extrachromosomal Circular DNA from Eukaryotic Cells
Published on: April 4, 2016
A new era for the dark genome
Merel Stemerdink1, Dalila Capasso2, Munevver Burcu Cicekdal3
1Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
Abstract:
A landmark study by Quinodoz et al. revealed that variants in noncoding small nuclear RNA genes, RNU4-2 and four RNU6 paralogs, represent a previously unrecognized cause of autosomal dominant retinitis pigmentosa. This uncovers pleiotropy in RNU4-2 variants and expands the genetic architecture of Mendelian disease into the 'dark genome'.
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