期刊
GENOME RESEARCH
卷 27, 期 12, 页码 2040-2049出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.219709.116
关键词
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资金
- National Cancer Institute [K22 CA177824]
- National Institutes of Health (NIH) [R01 CA144043]
- Programa de Desarrollo de Ciencias Basicas (PEDECIBA) [MOV_CA_2013_1_10789]
- Agencia Nacional de Investigacion e Innovacion (ANII) from the Uruguayan government
- University of Michigan Undergraduate Research Opportunity Program (UROP)
- University of Michigan Cancer Biology Program Fellowship
- Medical Science Training Program (MSTP)
- NIH Postbaccalaureate Research Education Program (PREP) [R25GM086262]
- NIH [RM-08-029, P30U54ES017885]
- Concerned Parents for AIDS Research CPFA [05-5089]
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.
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