Fabry disease: Novel α-galactosidase A 3′-terminal mutations result in multiple transcripts due to aberrant 3′-end formation

American Journal of Human Genetics

Volumn 73, Issue 1, 2003, Pages 162-173

  Yasuda, Makiko ^a   Shabbeer, Junaid ^c   Osawa, Makiko ^a   Desnick, Robert J ^b  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID; MESSENGER RNA;

3' UNTRANSLATED REGION; ARTICLE; CELL FRACTIONATION; CELL STRAIN COS7; CODON; FABRY DISEASE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; INBORN ERROR OF METABOLISM; LYMPHOBLAST; NORTHERN BLOTTING; POLYADENYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STABILITY; RNA DEGRADATION; X CHROMOSOME LINKED DISORDER;

MAMMALIA;

EID: 0037713660     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/376608     Document Type: Article

References (29)

1. Anderson MA, Gusella JF (1984) Use of cyclosporin A in establishing Epstein-Barr virus transformed human lymphoblastoid cell lines. In Vitro 20:856-858
2. Beaudoing E, Freier S, Wyatt JR, Claverie JM, Gautheret D (2000) Patterns of variant polyadenylation signal usage in human genes. Genome Res 10:1001-1010
3. Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF (2001) A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome. Immunogenetics 53:435-439
4. Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ (1986) Human α-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 83:4859-4863
5. Bishop DF, Kornreich R, Desnick RJ (1988) Structural organization of the human α-galactosidase A gene: further evidence for the absence of a 3′ untranslated region. Proc Natl Acad Sci USA 85:3903-3907
6. Chen F, MacDonald CC, Wilusz J (1995) Cleavage site determinants in the mammalian polyadenylation signal. Nucleic Acids Res 23:2614-2620
7. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W (1973) Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes α-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81:157-171
8. Desnick RJ, Ioannou YA, Eng CM (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 3733-3774
9. Eckner R, Ellmeier W, Birnstiel ML (1991) Mature mRNA 3′ end formation stimulates RNA export from the nucleus. EMBO J 10:3513-3522
10. Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC (2002) An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295:2258-2261
11. Harteveld CL, Losekoot M, Haak H, Heister GA, Giordano PC, Bernini LF (1994) A novel polyadenylation signal mutation in the α-2-globin gene causing α-thalassaemia. Br J Haematol 87:139-143
12. Hilleren P, McCarthy T, Rosbash M, Parker R, Jensen TH (2001) Quality control of mRNA 3′-end processing is linked to the nuclear exosome. Nature 413:538-542
13. Hsu AP, Tsai EJ, Anderson SM, Fischer RE, Malech H, Buckley RH, Puck JM (2000) Unusual X-linked SCID phenotype due to mutation of the poly-A addition signal of IL2RG. Am J Hum Genet 67:A206
14. Huang Y, Carmichael GC (1996) Role of polyadenylation in nucleocytoplasmic transport of mRNA. Mol Cell Biol 16:1534-1542
15. Ioannou YA, Zeidner KM, Grace ME, Desnick RJ (1998) Human α-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J 332:789-797
16. Kornreich R, Desnick RJ, Bishop DF (1989) Nucleotide sequence of the human α-galactosidase A gene. Nucleic Acids Res 17:3301-3302
17. Marchuk D, McCrohon S, Fuchs E (1985) Complete sequence of a gene encoding a human type I keratin: sequence homologous to enhancer elements in the regulatory region of the gene. Proc Natl Acad Sci USA 82:1609-1613
18. Myöhänen S, Kauppinen L, Wahlfors J, Alhonen L, Janne J (1991) Human spermadine synthase gene: structure and chromosomal localization. DNA Cell Biol 10:467-474
19. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, Tanaka H (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333:288-293
20. Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH Jr (1985) Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human β-globin gene. EMBO J 4:453-456
21. Pittler SJ, Baehr W, Wasmuth JJ, McConnel DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL (1990) Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase α-subunit and chromosomal localization of the human gene. Genomics 6:272-283
22. Preiss T, Hentze MW (1998) Dual function of the messenger RNA cap structure in poly(A)-tail-promoted translation in yeast. Nature 392:516-520
23. Rund D, Dowling C, Najjar K, Rachmilewitz EA, Kazazian HH Jr, Oppenheim A (1992) Two mutations in the β-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. Proc Natl Acad Sci USA 89:4324-4328
24. Sachs AB, Sarnow P, Hentze MW (1997) Starting at the beginning, middle, and end: translation initiation in eukaryotes. Cell 89:831-838
25. Shabbeer J, Yasuda M, Luca E, Desnick RJ (2002) Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype. Mol Genet Metab 76:23-30
26. van Hoof A, Frischmeyer PA, Dietz HC, Parker R (2002) Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science 295:2262-2264
27. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ (1991) An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324:395-399
28. Wahle E, Ruegsegger U (1999) 3′-End processing of pre-mRNA in eukaryotes. FEMS Microbiol Rev 23:277-295
29. Zhao J, Hyman L, Moore C (1999) Formation of mRNA 3′ ends in eukaryotes: mechanism, regulation, and interrelationships with other steps in mRNA synthesis. Microbiol Mol Biol Rev 63:405-445