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

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.

journal_name

EMBO Rep

journal_title

EMBO reports

authors

Capelson M,Hetzer MW

doi

10.1038/embor.2009.147

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

697-705

issue

7

eissn

1469-221X

issn

1469-3178

pii

embor2009147

journal_volume

10

pub_type

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