Rapid molecular assays to study human centromere genomics

Rafael Contreras-Galindo, Sabrina Fischer, Anjan K. Saha, John D. Lundy, Patrick W. Cervantes, Mohamad Mourad, Claire Wang, Brian Qian, Manhong Dai, Fan Meng, Arul Chinnaiyan, Gilbert S. Omenn, Mark H. Kaplan, David M. Markovitz

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The centromere is the structural unit responsible for the faithful segregation of chromosomes. Although regulation of centromeric function by epigenetic factors has been well-studied, the contributions of the underlying DNA sequences have been much less well defined, and existing methodologies for studying centromere genomics in biology are laborious. We have identified specific markers in the centromere of 23 of the 24 human chromosomes that allow for rapid PCR assays capable of capturing the genomic landscape of human centromeres at a given time. Use of this genetic strategy can also delineate which specific centromere arrays in each chromosome drive the recruitment of epigenetic modulators. We further show that, surprisingly, loss and rearrangement of DNA in centromere 21 is associated with trisomy 21. This new approach can thus be used to rapidly take a snapshot of the genetics and epigenetics of each specific human centromere in nondis-junction disorders and other biological settings.

Original languageEnglish (US)
Pages (from-to)2040-2049
Number of pages10
JournalGenome research
Issue number12
StatePublished - Dec 2017

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    Contreras-Galindo, R., Fischer, S., Saha, A. K., Lundy, J. D., Cervantes, P. W., Mourad, M., Wang, C., Qian, B., Dai, M., Meng, F., Chinnaiyan, A., Omenn, G. S., Kaplan, M. H., & Markovitz, D. M. (2017). Rapid molecular assays to study human centromere genomics. Genome research, 27(12), 2040-2049. https://doi.org/10.1101/gr.219709.116