RT Journal
A1 Contreras-Galindo, Rafael
A1 Fischer, Sabrina
A1 Saha, Anjan K.
A1 Lundy, John D.
A1 Cervantes, Patrick W.
A1 Mourad, Mohamad
A1 Wang, Claire
A1 Qian, Brian
A1 Dai, Manhong
A1 Meng, Fan
A1 Chinnaiyan, Arul
A1 Omenn, Gilbert S.
A1 Kaplan, Mark H.
A1 Markovitz, David M.
T1 Rapid molecular assays to study human centromere genomics
JF Genome Research 
JO Genome Research 
YR 2017 
FD November 15 
DO 10.1101/gr.219709.116 
UL http://genome.cshlp.org/content/early/2017/11/15/gr.219709.116.abstract 
AB 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 nondisjunction disorders and other biological settings.