A natural allele of Nxf1 suppresses retrovirus insertional mutations

Nature Genetics

Volumn 35, Issue 3, 2003, Pages 221-228

  Floyd, Jennifer A ^a   Gold, David A ^a   Concepcion, Dorothy ^b   Poon, Tiffany H ^b   Wang, Xiaobo ^a   Keithley, Elizabeth ^a   Chen, Dan ^a   Ward, Erica J ^b,g   Chinn, Steven B ^c,g,h   Friedman, Rick A ^c   Yu, Hon Tsen ^d   Moriwaki, Kazuo ^e   Shiroishi, Toshihiko ^f   Hamilton, Bruce A ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c HOUSE EAR INSTITUTE   (United States)

^d NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^e RIKEN BIORESOURCE CENTER   (Japan)

^f NATIONAL INSTITUTE OF GENETICS   (Japan)

^g UNIVERSITY OF MICHIGAN   (United States)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MESSENGER RNA PRECURSOR; NUCLEAR EXPORT FACTOR I; NUCLEAR FACTOR I; UNCLASSIFIED DRUG;

ALLELE; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BRANCHIOOTORENAL SYNDROME; CONTROLLED STUDY; EVOLUTION; EYA1 BOR GENE; EYA1 GENE; GENE CONTROL; GENE EXPRESSION REGULATION; GENE INSERTION; GENE LOCUS; GENETIC COMPLEMENTATION; INTRON; MODIFIER OF VIBRATOR 1 GENE; MOUSE; MVB1 CASE GENE; NONHUMAN; PITPN GENE; PITPN VB GENE; PRIORITY JOURNAL; RETROVIRUS; RNA PROCESSING; RNA SPLICING; TRANSGENE; VIRUS GENOME; VIRUS MUTATION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; DNA-BINDING PROTEINS; ENDOGENOUS RETROVIRUSES; GENETIC COMPLEMENTATION TEST; HUMANS; INTRONS; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS; TRANSGENES;

ANIMALIA; INSERTION SEQUENCES; MAMMALIA; MUS; MUS MUSCULUS; MUS MUSCULUS CASTANEUS; MUSCULUS; RNA VIRUSES; UNIDENTIFIED RETROVIRUS;

EID: 0242361316     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1247     Document Type: Article

References (33)

1. Boeke, J.D. & Stoye, J.P. Retrotransposons, endogenous retroviruses, and the evolution of retroelements. In Retroviruses (eds. Coffin, J.M., Hughes, S.H. & Varmus, H.E.) 343-436 (Cold Spring Harbor Laboratory Press, Plainview, New York, 1997).
2. Hamilton, B.A. & Frankel, W.N. Of mice and genome sequence. Cell 107, 13-16 (2001).
3. Hamilton, B.A. et al. The vibrator mutation causes neurodegeneration via reduced expression of PITPα: positional complementation cloning and extragenic suppression. Neuron 18, 711-722 (1997).
4. Waterston, R.H. et al. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562 (2002).
5. Johnson, K.R. et al. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum. Mol. Genet. 8, 645-653 (1999).
6. Tabernero, C. et al. Identification of an RNA sequence within an intracisternal-A particle element able to replace Rev-mediated posttranscriptional regulation of human immunodeficiency virus type 1. J. Virol. 71, 95-101 (1997).
7. Lindtner, S., Felber, B.K. & Kjems, J. An element in the 3′ untranslated region of human LINE-1 retrotransposon mRNA binds NXF1(TAP) and can function as a nuclear export element. RNA 8, 345-356 (2002).
8. Yonekawa, H. et al. Hybrid origin of Japanese mice Mus musculus molossinus: evidence from restriction analysis of mitochondrial DNA. Mol. Biol. Evol. 5, 63-78 (1988).
9. Xu, P.X. et al. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat. Genet. 23, 113-117 (1999).
10. Mercer, J.A., Seperack, P.K., Strobel, M.C., Copeland, N.G. & Jenkins, N.A. Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349, 709-713 (1991).
11. Cachon-Gonzalez, M.B. et al. Structure and expression of the hairless gene of mice. Proc. Natl. Acad. Sci. USA 91, 7717-7721 (1994).
12. Potter, G.B. et al. The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor. Genes Dev. 15, 2687-2701 (2001).
13. Stoye, J.P., Fenner, S., Greenoak, G.E., Moran, C. & Coffin, J.M. Role of endogenous retroviruses as mutagens: the hairless mutation of mice. Cell 54, 383-391 (1988).
14. Bultman, S.J. et al. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev. 8, 481-490 (1994).
15. Duhl, D.M., Vrieling, H., Miller, K.A., Wolff, G.L. & Barsh, G.S. Neomorphic agouti mutations in obese yellow mice. Nat. Genet. 8, 59-65 (1994).
16. Vasicek, T.J. et al. Two dominant mutations in the mouse fused gene are the result of transposon insertions. Genetics 147, 777-786 (1997).
17. Zeng, L. et al. The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90, 181-192 (1997).
18. Fagotto, F. et al. Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization. J. Cell Biol. 145, 741-756 (1999).
19. Hsu, W., Zeng, L. & Costantini, F. Identification of a domain of Axin that binds to the serine/threonine protein phosphatase 2A and a self-binding domain. J. Biol. Chem. 274, 3439-3445 (1999).
20. Sheldon, M. et al. Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice. Nature 389, 730-733 (1997).
21. Ware, M.L. et al. Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron 19, 239-249 (1997).
22. Gruter, P. et al. TAP, the human homolog of Mex67p, mediates CTE-dependent RNA export from the nucleus. Mol. Cell 1, 649-659 (1998).
23. Bachi, A. et al. The C-terminal domain of TAP interacts with the nuclear pore complex and promotes export of specific CTE-bearing RNA substrates. RNA 6, 136-158 (2000).
24. Grant, R.P., Hurt, E., Neuhaus, D. & Stewart, M. Structure of the C-terminal FG-nucleoporin binding domain of Tap/NXF1. Nat. Struct. Biol. 9, 247-251 (2002).
25. Grant, R.P., Neuhaus, D. & Stewart, M. Structural basis for the interaction between the Tap/NXF1 UBA domain and FG nucleoporins at 1Å resolution. J. Mol. Biol. 326, 849-858 (2003).
26. Sabeti, P.C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
27. Strässer, K. et al. TREX is a conserved complex coupling transcription with messenger RNA export. Nature 417, 304-308 (2002).
28. Bruhn, L., Munnerlyn, A. & Grosschedl, R. ALY, a context-dependent coactivator of LEF-1 and AML-1, is required for TCRα enhancer function. Genes Dev. 11, 640-653 (1997).
29. Zhou, Z. et al. The protein Aly links pre-messenger-RNA splicing to nuclear export in metazoans. Nature 407, 401-405 (2000).
30. Gatfield, D. & Izaurralde, E. REF1/Aly and the additional exon junction complex proteins are dispensable for nuclear mRNA export. J. Cell Biol. 159, 579-588 (2002).
31. Ostertag, E.M. et al. A mouse model of human L1 retrotransposition. Nat. Genet. 32, 655-660 (2002).
32. Weimar, W.R., Lane, P.W. & Sidman, R.L. Vibrator (vb): a spinocerebellar system degeneration with autosomal recessive inheritance in mice. Brain Res. 251, 357-364 (1982).
33. Seperack, P.K., Mercer, J.A., Strobel, M.C., Copeland, N.G. & Jenkins, N.A. Retroviral sequences located within an intron of the dilute gene alter dilute expression in a tissue-specific manner. EMBO J. 14, 2326-2332 (1995).