Essays on Science and SocietyGenome-Sequencing Anniversary

Presenting the Human Genome: Now in 3D!

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Science  25 Feb 2011:
Vol. 331, Issue 6020, pp. 1025-1026
DOI: 10.1126/science.1203602
CREDIT: RICHARD WHEELER/ZEPHYRIS/2005/WIKIMEDIA COMMONS

The completion of the human genome sequence in 2001 was, to me, the most important accomplishment in biology. Since then, we have journeyed to the next frontier through significant improvements in our ability to analyze and map gene expression and transcription factor–binding sites in the human genome. We now understand that the genome is far more complex than linear information could explain. Therefore, to fully appreciate the rules by which the genome operates on an organismal level, we have to comprehend higher-order chromosomal organization. To reach that pinnacle, we need first to understand how the genome is spatially organized and how that organization affects basic nuclear and cellular processes. We also need to learn how transcriptional dynamics and epigenomic states affect the topological organization of chromosomes. Exciting progress has been made recently in mapping the three-dimensional (3D) chromatin architecture. Growing evidence suggests that long-range chromatin interactions are crucial for transcriptional regulation and genome rearrangement, for example, in cancer cells. Ten years ago, the linear composition of the genome was spelled out; I anticipate that in the next 5 to 10 years, we will be able to reveal the 3D topographic map of the human genome within cells, which will help us uncover new insights into development, as well as into the basis for disease.

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