Niemann-Pick type C disease: Mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts

Journal of Lipid Research

Volumn 43, Issue 11, 2002, Pages 1908-1919

  Tarugi, Patrizia ^a   Ballarini, Giorgia ^c   Bembi, Bruno ^c   Battisti, Carla ^b   Palmeri, Silvia ^b   Panzani, Francesca ^a   Leo, Enza Di ^a   Martini, Cristina ^c   Federico, Antonio ^b   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Abnormal mRNA decay; Alternative splicing; Monoallelic expression; Splicing defects

Indexed keywords

COMPLEMENTARY DNA; CYCLOHEXIMIDE; GENOMIC DNA; MESSENGER RNA; CARRIER PROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DNA DETERMINATION; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; NIEMANN PICK DISEASE; NPC1 GENE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; STOP CODON; AMINO ACID SEQUENCE; CHEMISTRY; GENE EXPRESSION REGULATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRESCHOOL CHILD; RNA SPLICING;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; EXONS; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GENETIC SCREENING; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; POLYMORPHISM, GENETIC; RNA SPLICE SITES;

EID: 0036846246     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: 10.1194/jlr.M200203-JLR200     Document Type: Article

References (33)

1. Patterson, M. C., M. T. Vanier, K. Suzuki, J. A. Morris, E. Carstea, E. B. Neufeld, E. J. Blanchette Mackie, and P. G. Pentchev. 2001. Niemann-Pick disease type-C: a lipid trafficking disorder. In The Metabolic and Molecular Bases of Inherited Disease, 8th Edition. Vol. 3. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. B. Valle, B. Childs, K. W., Kinzler, B. Vogelstein, editors. McGraw-Hill, New York, NY. 3611-3634.
2. Blanchette-Mackie, E. J. 2000. Intracellular cholesterol trafficking: Role of the NPC1 protein. Biochim. Biophys. Acta. 1486: 171-183.
3. Pentchev, P. G., R. O. Brady, E. J. Blanchette-Mackie, M. T. Vanier, E. D. Carstea, C. C. Parker, E. Goldin, and C. E Roff. 1994. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilisation of cholesterol. Biochim. Biophys. Acta. 1225: 235-243.
4. Steinberg, S. J., D. Mondal, and A. H. Fensom. 1996. Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification. J. Inherit. Metab. Dis. 19: 769-774.
5. Vanier, M. T., S. Duthel, C. Rodriguez-Lafrasse, P. Pentchev, and E. D. Carstea. 1996. Genetic heterogeneity in Niemann-Pick disease: A study using somatic cell hybridisation and linkage analysis. Am. J. Hum. Genet. 58: 118-125.
6. Davies, J. P., and Y A. Ioannou. 2000. Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3methylglutaryl-CoA reductase and sterol regulatory, element binding protein cleavage-activating protein. J. Biol. Chem. 275: 24367-24374.
7. Cruz, J. C., S. Sugii, Y. Chunjiang, and T-Y. Chang. 2000. Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol. J. Biol. Chem. 275: 4013-4021.
8. Cruz, J. C., and T. Y. Chang. 2000. Fate of endogenously synthesised cholesterol in Niemann-Pick type C1 cells. J. Biol. Chem. 275: 41309-41316.
9. Zhang, M., N. K. Dwyer, E. B. Neufeld, D. C. Lowe, A. Cooney, M. Comly, S. Patel, H. Watari, J. F. Strauss III, P. G. Pentchev, J. A. Hanover, and E. J. Blanchette-Mackie. 2001. Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes. J. Biol. Chem. 276: 3417-3425.
10. Carstea, E. G., J. A. Morris, K. G. Coleman, S. K. Loftus, D. Zhang, C. Cummings, J. Gu, M. A. Rosenfeld, W. J. Pavan, D. B. Krizman, J. Nagle, M. H. Polymeropoulos, S. L. Sturley, Y. A. Ioannuou, M. E. Higgins, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, E. J. Blanchette-Mackie, N. K. Dwer, E. B. Neufeld, T-Y. Chang, L. Liscum, J. F. Strauss III, K. Ohno, M. Zeigler, R. Carmi, J. Sokol, D. Markie, R. R. O'Neill, O. P. van Diggelen, M. Elleder, M. C. Patterson, R. O. Brady, M. T. Vanier, P. G. Pentchev, and D. A. Tagle. 1999. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science. 277: 228-231.
11. Greet, W. L., M. J. Dobson, G. S. Girouard, D. M. Byers, D. C. Riddell, and P. E. Neumann. 1999. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am. J. Hum. Genet. 65: 1252-1260.
12. Millat, G., C. Marcais, M. A. Rafi, T. Yamamoto, J. A. Morris, P. G. Pentchev, K. Ohno, D. Wenger, and M. T. Vanier. 1999. Niemann-Pick C1 disease: The I1061T substitution is a frequent mutant allele in patients of western European descent and correlates with a classic juvenile phenotype. Am. J. Hum. Genet. 65: 1321-1329.
13. Yamamoto, T., H. Ninomiya, M. Matsumoto, Y. Ohta, E. Namba, Y. Tsutsumi, K. Yamakawa, G. Millat, M. T. Vanier, P. G. Pentchev, and K. Ohno. 2000. Genotype-phenotype relationship of Niemann-Pick disease type C: A possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. J. Med. Genet. 37: 707-711.
14. Millat, G., C. Marcais, C. Tomasetto, K. Chikh, A. H. Fensom, K. Harzer, D. A. Wenger, K. Ohno, and M. T. Vanier. 2001. Niemann-Pick C1 disease: Correlations between NPCI mutations, levels of NPC1 protein, and phenotypes emphasise the functional significance of the putative sterol-sensing domain and of the cyteine-rich luminal loop. Am. J. Hum. Genet. 68: 1373-1385.
15. Sun, X., D. L. Marks, W. D. Park, C. L. Wheatley, V. Puri, J. F. O'Brien, D. L. Kraft, P. A. Lundquist, M. C. Patterson, R. E. Pagano, and K. Snow. 2001. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am. J. Hum. Genet. 68: 1361-1372.
16. Ribeiro, I., A. Marcao, O. Aamaral, M. C. Sa Miranda, M. T. Vanier, and G. Millat. 2001. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum. Genet. 109: 24-32.
17. Naureckiene, S., D. E. Sleat, H. Lackland, A. Fensom, M. T. Vanier, R. Wattiaux, J. M. Jadot, and P. Lobel. 2000. Identification of HE1 as the second gene of Niemann-Pick Type C disease. Science. 290: 2298-2301.
18. Millat, G., K. Chikh, S. Naureckiene, D. E. Sleat, A. H. Fensom, K. Higaki, M. Elleder, P. Lobel, and M. T. Vanier. 2001. Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am. J. Hum. Genet. 69: 1013-1021.
19. Vanier, M. T., and K. Suzuki. 1998. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol. 89: 163-174.
20. Lelli, N., M. Ghisellini, R. Gualdi, R. Tiozzo, S. Calandra, A. Gaddi, A. Ciarrocchi, M. Arca, S. Fazio, and S. Bertolini. 1991. Characterisation of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia. Arterioscler Thromb. 11: 234-243.
21. Sambrook, J. E., F. Fritsch, and T. Maniatis. 1989. Molecular Cloning. A Laboratory Manual. Cold Spring Harbor Laboratory, Press, Cold Spring Harbor, N.Y.
22. Morris, J. A., D. Zhang, K. G. Coleman, J. Nagle, P. G. Pentchev, and E. D. Carstea. 1999. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem. Biophys. Res. Commun. 261: 493-498.
23. Carter, M. S., J. Doskow, P. Morris, S. Li, R. P. Nhim, S. Sandstedt, and M. E Wilkinson. 1995. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J. Biol. Chem. 270: 28995-29003.
24. Byers, P. H. 2002. Killing the messenger: New insights into nonsense-mediated mRNA. J. Clin. Invest. 109: 3-6.
25. Lykke-Andersen, J., M-D. Shu, and J. A. Steitz. 2000. Human Upf proteins target an mRNA for nosense-mediated decay when bound downstream of a termination codon. Cell. 103: 1121-1131.
26. Bhattacharya, A., K. Czaplinski, P. Trifillis, F. He, and A. Jacobson. 2000. Characterisation of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay. RNA. 9: 1226-1235.
27. Ishigaki, Y., X. Li, G. Serin, and L. E. Maquat. 2001. Evidence for a pioneer round of mRNA translation: mRNA subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell. 106: 607-617.
28. Lykke-Andersen, J., M-D. Shu, and J. A. Steitz. 2001. Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science. 293: 1836-1838.
29. Iborra, F. J., D. A. Jackson, and P. R. Cook. 2001. Coupled transcription and translation within nuclei of mammalian cells. Science. 293: 1139-1142.
30. Cheng, J., P. Belgrader, X. Zhou, and L. E. Maquat. 1994. Introns are cis-effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance. Mol. Cell. Biol. 14: 6317-6325.
31. Carter, M. S., S. Li, and M. L. Wilkinson. 1996. A splicing-dependent regulatory mechanism that detects translation signals. EMBO J. 15: 5965-5975.
32. Shapiro, M. B., and P. Senapathy. 1987. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15: 7155-7175.
33. Cartegni, L., S. L. Chew, and A. R. Krainer. 2002. Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat. Rev. Genet. 3: 285-298.