Table 1.
Tissue-specific roles of metazoan nucleoporins
| Metazoan nucleoporins(Saccharomyces cerevisiae homologue) | Tissue-specific disorder or developmental aspect | Nature of nucleoporin mutation | References |
|---|---|---|---|
| Human Nup155 (Nup157, Nup170) | AF, which is a cardiac disorder characterized by clinical arrhythmia | Homozygous missense R391H in humans; large truncation (leaving 271/1,391 amino acids) in mouse model | Zhang et al, 2008 |
| Drosophila Nup154(Nup157, Nup170) | Male and female gametogenesis, various steps of oogenesis and spermatogenesis | P-element insertion in the 5′ region of the gene, resulting in reduced expression (hypomorph) | Gigliotti et al, 1998; Grimaldi et al, 2007 |
| Human Nup98, mouse Nup98(Nup145N, Nup116) | Acute myeloid leukaemia (and other haematological malignancies); haematopoietic stem-cell proliferation | Multiple genomic translocations, which result in fusion of Nup98 fragment, including FG repeats, to another gene | Nakamura et al, 1996; Slape & Aplan, 2004; Takeda et al, 2006 |
| Mouse Nup96(Nup145C) | Immune-system function, interferon response, B-cell and T-cell proliferation | Genetic knockout by an inserted early stop codon | Faria et al, 2006 |
| Human Nup214(Nup159) | T-cell acute lymphoblastic leukaemia | Genomic translocations, which fuse Nup214/CAN fragment to another gene | Graux et al, 2004; Saito et al, 2004 |
| Drosophila Nup88/mbo(Nup82) | Trachea, central nervous system, imaginal discs of larvae; immune response | Genetic null by removal of 5′-coding sequences | Uv et al, 2000 |
| Human Nup62(Nsp1) | Primary biliary cirrhosis (autoimmune liver degeneration) | Autoimmune antigen | Wesierska-Gadek et al, 2007 |
| Human Nup62(Nsp1) | Autosomal recessive infantile bilateral striatal necrosis (degeneration of the basal ganglia) | Homozygous missense Q391P mutation | Basel-Vanagaite et al, 2006 |
| Human Gp210(–) | Primary biliary cirrhosis (autoimmune liver degeneration) | Autoimmune antigen | Tartakovsky & Worman, 1995 |
| Human Nup358/RanBP2(–) | Familial cases of infection-triggered acute necrotizing encephalopathy | Heterozygous missense mutation T585M | Neilson et al, 2009 |
| Mouse Nup133(Nup133) | Neural stem/progenitor cell differentiation | Functional null mutation owing to truncation/stop codon | Lupu et al, 2008 |
| Human Aladin(–) | Triple A syndrome (adrenal insufficiency, absence of tear secretion and achalasia) | Various nonsense, frameshift and missense mutations | Cronshaw & Matunis, 2003 |
| Zebrafish ELYS/Flo(–) | Proliferating progenitor cells in developing retina and intestine | Truncated protein owing to early stop codon and lower expression levels | Davuluri et al, 2008; de Jong-Curtain et al, 2008 |
AF, atrial fibrillation; CAN, Nup214/CAN; ELYS, embryonic large molecule derived from yolk sac; Flo, flotte lotte; Gp210, glycoprotein of 210 kDa; mbo, members only; Nup, nucleoporin; RanBP2, Ran-binding protein 2.