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Dev Biol 2021 Jan 01;469:46-53. doi: 10.1016/j.ydbio.2020.10.001.
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Nucleoporin NUP205 plays a critical role in cilia and congenital disease.

Marquez J , Bhattacharya D , Lusk CP , Khokha MK .

Ciliopathies affect a variety of tissues during development including the heart, kidneys, respiratory tract, and retina. Though an increasing number of monogenic causes of ciliopathies have been described, many remain unexplained. Recently, recessive variants in NUP93 and NUP205 encoding two proteins of the inner ring of the nuclear pore complex were implicated as causes of steroid resistant nephrotic syndrome. In addition, we previously found that the inner ring nucleoporins NUP93 and NUP188 function in proper left-right patterning in developing embryos via a role at the cilium. Here, we describe the role of an additional inner ring nucleoporin NUP205 in cilia biology and establishment of normal organ situs. Using knockdown in Xenopus, we show that Nup205 depletion results in loss of cilia and abnormal cardiac morphology. Furthermore, by transmission electron microscopy, we observe a loss of cilia and mispositioning of intracellular ciliary structures such as basal bodies and rootlets upon depleting inner ring nucleoporins. We describe a model wherein NUP93 interacting with either NUP188 or NUP205 is necessary for cilia. We thus provide evidence that dysregulation of inner ring nucleoporin genes that have been identified in patients may contribute to pathogenesis through cilia dysfunction.

PubMed ID: 33065118
PMC ID: PMC7722132
Article link: Dev Biol
Grant support: [+]

Genes referenced: atp1a1 dand5 dnah9 foxj1 foxj1.2 mcc nup107 nup160 nup188 nup205 nup35 nup93 pitx2
GO keywords: nuclear pore outer ring [+]
Morpholinos: nup188 MO1 nup205 MO1 nup93 MO1
gRNAs referenced: nup205 gRNA1

Disease Ontology terms: ciliopathy [+]
Phenotypes: Xtr wt + nup188 MO (Fig. 3 B r1c3) [+]

Article Images: [+] show captions
References [+] :
Amlacher, Insight into structure and assembly of the nuclear pore complex by utilizing the genome of a eukaryotic thermophile. 2011, Pubmed