期刊
EXPERIMENTAL CELL RESEARCH
卷 389, 期 2, 页码 -出版社
ELSEVIER INC
DOI: 10.1016/j.yexcr.2020.111896
关键词
Satellite DNA; Repetitive DNA; Epiallele; Haplotype; Dicentric chromosome; Kinetochore
资金
- NIH [ROl GM124041, ROl GM129263, R21 CA238758]
Centromeres are central to chromosome segregation and genome stability, and thus their molecular foundations are important for understanding their function and the ways in which they go awry. Human centromeres typically form at large megabase-sized arrays of alpha satellite DNA for which there is little genomic understanding due to its repetitive nature. Consequently, it has been difficult to achieve genome assemblies at centromeres using traditional next generation sequencing approaches, so that centromeres represent gaps in the current human genome assembly. The role of alpha satellite DNA has been debated since centromeres can form, albeit rarely, on non-alpha satellite DNA. Conversely, the simple presence of alpha satellite DNA is not sufficient for centromere function since chromosomes with multiple alpha satellite arrays only exhibit a single location of centromere assembly. Here, we discuss the organization of human centromeres as well as genomic and functional variation in human centromere location, and current understanding of the genomic and epigenetic mechanisms that underlie centromere flexibility in humans.
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