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Genomics

A catalogue of human gene activity

Nature Reviews Genetics volume 15, page 290 (2014)Cite this article

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In their first study, the researchers mapped transcription start sites in a range of sample types, including human and mouse primary cells, cell lines and tissues. They sequenced cap analysis of gene expression (CAGE) libraries to produce gene expression profiles. This methodology allowed them to analyse multiple promoters related to the same gene and to locate active enhancers, which were presented in the second paper.

These data yield a comprehensive 'atlas' of at least one promoter for more than 95% of annotated protein-coding genes in the human reference genome and provide insights into the properties that regulate cell type specificity of promoters. For example, the atlas revealed that promoters with a higher cell type or tissue specificity evolved more quickly than those that are broadly expressed. In addition, the group found that surprisingly few genes (only 6% of all genes) are 'housekeeping genes'. This encyclopaedia of human gene expression has immediate applications for the design of tissue-specific promoter constructs for mouse models and gene therapy vectors.

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References

  1. The FANTOM Consortium and the RIKEN PMI and CLST (DGT). A promoter-level mammalian expression atlas. Nature 507, 462–470 (2014)

  2. Andersson, R. et al. An atlas of active enhancers across human cell types and tissues. Nature 507, 455–461 (2014)

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Authors
  1. Isabel Lokody
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Lokody, I. A catalogue of human gene activity. Nat Rev Genet 15, 290 (2014). https://doi.org/10.1038/nrg3720

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