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- W2769904872 abstract "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." @default.
- W2769904872 created "2017-12-04" @default.
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- W2769904872 date "2017-11-15" @default.
- W2769904872 modified "2023-10-15" @default.
- W2769904872 title "Rapid molecular assays to study human centromere genomics" @default.
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- W2769904872 doi "https://doi.org/10.1101/gr.219709.116" @default.
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