The structure and function of chromatin and chromosomes

William Stafford Noble, C. Anthony Blau, Job Dekker, Zhi-jun Duan and Yi Mao.

Proceedings of the Pacific Symposium on Biocomputing. 17:434-440, 2012.


Abstract

One of the striking features of the eukaryotic nucleus is that chromosomes adopt preferred conformations that vary across different tissues and developmental stages. Many lines of evidence suggest the functional significance of genome architecture, including the existence of chromosomes territories, the correlation between radial positioning of chromosomes with gene density, transcriptional activity, replication timing and chromosome size, the tissue-specific spatial configurations of chromosomes relative to one another, the co-localization of disparate DNA elements into functionally defined aggregates or "factories", and the predisposition to human disease, including cancer by predisposition to acquisition of karyotypic defects. Collectively, these various lines of evidence indicate an intimate relationship between genome structure and function. These findings also emphasize the need to characterize both local and global chromosome structure to understand the underlying regulatory mechanisms of various genome functions.



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