Rapid molecular assays to study human centromere genomics

• DOI: 10.1101/gr.219709.116
• Publication Date: 2017-11-15T17:10:36Z
• Authors: Rafael Contreras-...; 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
• Keywords: Nondisjunction; Human artificial chromosome

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