Table 1.

Nucleoporin-associated alterations and disorders in male and female reproduction.

Nucleoporin	Alteration	Model	Associated alterations in reproduction	Reference
AAAS	Aaas−/−	Mice	Female sterility with alterations in meiosis, diminished quality of mature oocytes, low fertility rates, and halted development after fertilization.	Carvalhal et al. 2017
Elys	X-linked CG14215, Elys mutant strains	Drosophila	Female sterility, alterations in zygote viability with disruption of mitotic progression.	Hirai et al. 2018
Nup50	Nup50−/−	Mice	Impaired development of primordial germ cells in both males and females.	Park et al. 2016
Nup107	Missense D447N mutation	Human and Drosophila	Human XX-gonadal dysgenesis; in Drosophila model, females had abnormalities in egg shells, egg chambers, nurse cells, accompanied by cell death and sterility.	Weinberg-Shukron et al. 2015
Nup107-Nup160 complex	UAS-Nup107 RNAi	Drosophila	Abnormality in nuclear lamina in male spermatocytes with impaired meiosis and cytokinesis.	Hayashi et al. 2016
Nup154	P-element induced mutation l(2)01501: tlp1 and tlp2	Drosophila	Females had alterations in egg chamber development, low oocyte production, and decreased rates of fertilization. In males, alterations in cyst formation, spermatocyte proliferation, and meiotic progression with developmental arrest of spermatocytes.	Gigliotti et al. 1998
Nup154	tlp1 mutant	Drosophila	Females had abnormal organization of actin filaments egg chambers with defective nurse cell dumping and delayed apoptosis.	Riparbelli et al. 2007
Nup154	tlp1 mutant	Drosophila	Males exhibited increased apoptosis and reduced proliferation of germ cells, as well as alteration in meiosis and differentiation during spermatogenesis.	Colozza et al. 2011
Ndc1/TMEM48	Exon-trapped Tmem48	Mice	TMEM48-associated spermatogenesis arrest at prophase ofmeiosis I.	Akiyama et al. 2013
Ndc1	SEPT12D197N mutation	Mice	Ndc1 modulates SEPT12 localization in male germ cell line. SEPT12-Ndc1-complex associated alterations during sperm head and tail formation.	Lai et al. 2016
Seh1	Seh1A15, Seh1A86 deletions	Drosophila	Drosophila females had diminished egg chambers, oocyte production, and lower hatching rate. Interaction of Seh1 with Mio is crucial for the development of mature ovum.	Senger et al. 2011

Note: AAAS, aladin WD repeat nucleoporin; Elys, embryonic large molecule derived from yolk sac; Mio, missing oocyte; Ndc1, Ndc1 transmembrane protein; Nup, nucleoporin; TMEM48, transmembrane protein 48; tlp, tulipano mutation; SEPT12, septin 12.