The role of nuclear pores in gene regulation, development and disease

Capelson M, Hetzer M. 2009. The role of nuclear pores in gene regulation, development and disease. EMBO reports. 10(7), 697–705.


Journal Article | Published | English

Scopus indexed
Author
Capelson, Maya; Hetzer, MartinISTA
Abstract
Nuclear-pore complexes (NPCs) are large protein channels that span the nuclear envelope (NE), which is a double membrane that encloses the nuclear genome of eukaryotes. Each of the typically 2,000–4,000 pores in the NE of vertebrate cells is composed of multiple copies of 30 different proteins known as nucleoporins. The evolutionarily conserved NPC proteins have the well-characterized function of mediating the transport of molecules between the nucleoplasm and the cytoplasm. Mutations in nucleoporins are often linked to specific developmental defects and disease, and the resulting phenotypes are usually interpreted as the consequences of perturbed nuclear transport activity. However, recent evidence suggests that NPCs have additional functions in chromatin organization and gene regulation, some of which might be independent of nuclear transport. Here, we review the transport-dependent and transport-independent roles of NPCs in the regulation of nuclear function and gene expression.
Publishing Year
Date Published
2009-07-01
Journal Title
EMBO reports
Volume
10
Issue
7
Page
697-705
ISSN
eISSN
IST-REx-ID

Cite this

Capelson M, Hetzer M. The role of nuclear pores in gene regulation, development and disease. EMBO reports. 2009;10(7):697-705. doi:10.1038/embor.2009.147
Capelson, M., & Hetzer, M. (2009). The role of nuclear pores in gene regulation, development and disease. EMBO Reports. EMBO. https://doi.org/10.1038/embor.2009.147
Capelson, Maya, and Martin Hetzer. “The Role of Nuclear Pores in Gene Regulation, Development and Disease.” EMBO Reports. EMBO, 2009. https://doi.org/10.1038/embor.2009.147.
M. Capelson and M. Hetzer, “The role of nuclear pores in gene regulation, development and disease,” EMBO reports, vol. 10, no. 7. EMBO, pp. 697–705, 2009.
Capelson M, Hetzer M. 2009. The role of nuclear pores in gene regulation, development and disease. EMBO reports. 10(7), 697–705.
Capelson, Maya, and Martin Hetzer. “The Role of Nuclear Pores in Gene Regulation, Development and Disease.” EMBO Reports, vol. 10, no. 7, EMBO, 2009, pp. 697–705, doi:10.1038/embor.2009.147.
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