Molecular misreading. A new type of transcript mutation in gerontology

Annals of the New York Academy of Sciences

Volumn 908, Issue , 2000, Pages 267-281

  Van Leeuwen, Fred W ^a   Fischer, David F ^a   Benne, Rob ^b   Hol, Elly M ^a  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; DINUCLEOTIDE; MESSENGER RNA; MUTANT PROTEIN; UBIQUITIN; VASOPRESSIN;

ALZHEIMER DISEASE; AMINO TERMINAL SEQUENCE; CARBOXY TERMINAL SEQUENCE; CONFERENCE PAPER; DIABETES INSIPIDUS; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HUMAN; NEUROPATHOLOGY; NONHUMAN; RAT;

EID: 0033913111     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2000.tb06654.x     Document Type: Conference Paper

References (57)

1. 1. VAN LEEUWEN, F.W., D.P. V. DE KLEIJN, H.H. VAN DEN HURK, et al. 1998. Frameshift mutants of β amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science 279: 242-247.
2. 2. VAN LEEUWEN, F.W., J.P.H. BURBACH & E.M. HOL. 1998. Mutations in RNA: a first example of molecular misreading in Alzheimer's disease. TINS 21: 331-335.
3. 3. EVANS, D.A.P., A.A.M. VAN DER KLEIJ, M.A.F. SONNEMANS, et al. 1994. Frameshift mutations at two hotspots in vasopressin transcripts in post-mitotic neurons. Proc. Natl. Acad. Sci. USA 91: 6059-6063.
4. 4. VAN LEEUWEN, F.W., E.M. HOL, R.W.H. HERMANUSSEN, et al. 2000. Molecular misreading in non-neuronal cells. FASEB J. In press.
5. 5. VAN BROECKHOVEN, C. 1998. Alzheimer's disease: identification of genes and genetic risk factor. In Neuronal Degeneration and Regeneration: From Basic Mechanisms to Prospects for Therapy. F.W. van Leeuwen et al., Eds. Prog. Brain Res. 117: 315-326.
6. 6. MANN, D.M.A. 1997. Molecular biology's impact on our understanding of aging. Br. Med. J. 315: 1078-1081.
7. 7. SWAAB, D.F., P.J. LUCASSEN, A. SALEHI, et al. 1998. Reduced neuronal activity and reactivation in Alzheimer's disease. Progr. Brain Res. 177: 343-379.
8. 8. NUNOMURA, A., G. PERRY, M.A. PAPOLLA, et al. 1999. RNA oxidation is a prominent feature of vulnerable neurons in Alzheimer's disease. J. Neurosci. 19: 1959-1964.
9. 9. VOGEL, G. 1998. Possible new cause of Alzheimer's disease found. Science 279: 174.
10. 10. OTT, A., M.M.B. BRETLER, F. VAN HARSKAMP, et al. 1995. Prevalence of Alzheimer's disease and vascular dementia: association with education. The Rotterdam study. Br. Med. J. 310: 970-973.
11. 11. WILHELMSEN, K. C. 1999. The tangled biology of tau. Proc. Natl. Acad. Sci. USA 96: 7120-7121.
12. 12. ARRIAGADA, P.V., J.H. GROWDON, E.T. HEDLEY-WHITE & B.T. HYMAN. 1992. Neurofibrillary tangles but not senile plaques parallel duration and severity of Alzheimer's disease. Neurology 42: 631-638.
13. 13. BRAAK, H., E. BRAAK, J. BOHL & R. REINTJES. 1996. Age, neurofibrillary changes, Aβ-amyloid and the onset of Alzheimer's disease. Neurosci. Lett. 210: 87-90.
14. 14. SELKOE, D.J. 1999. Translating cell biology into therapeutic advances in Alzheimer's disease. Nature 399: 23-31.
15. 15. VAN LEEUWEN, F.W., E.M. VAN DER BEEK, M. SEGER, et al. 1989. Age-related development of a heterozygous phenotype in solitary neurons of the homozygous Brattleboro rat. Proc. Natl. Acad. Sci. USA 86: 6417-6420.
16. 16. FINCH, C.E. & M.F. GOODMAN. 1997. Relevance of "adapative" mutations arising in non-dividing cells of microorganisms to age-related changes in mutant phenotypes of neurons. TINS 20: 501-507.
17. 17. VALTIN, H. 1982. The discovery of the Brattleboro rat, recommended nomenclature, and the question of proper controls. Ann. N.Y. Acad. Sci. 394: 1-9.
18. 18. SCHMALE, H., B. BOROWIAK, H. HOLT-GREZ & D. RICHTER. 1989. Impact of altered protein structures on the intracellular traffic of a mutated vasopressin precursor from Brattleboro rats. Eur. J. Biochem. 182: 621-627.
19. 19. SONNEMANS, M.A.F., D.A.P. EVANS, J.P.H. BURBACH & F.W. VAN LEEUWEN. 1996. Immunocytochemical evidence for the presence of vasopressin in intermediate sized neurosecretory granules of solitary neurohypophyseal terminals in the homozygous Brattleboro rat. Neuroscience 72: 225-231.
20. 20. VAN LEEUWEN, F.W., D.A.P. EVANS, R.W.H. VERWER & J.P.H. BURBACH. 1998. The magnocellular neurons of the hypothalamo-neurohypophyseal system display remarkable neuropeptidegic phenotypes leading to novel insights in neuronal biology. In Brain Vasopressin and Related Peptides, Life Science Advances on Neuropeptides. J.P.H. Burbach, I.J.A. Urban & D. De Wied, Eds. Progr. Brain Res. 119: 115-126. Elsevier Biomedical Press. Amsterdam.
21. 21. EVANS, D.A.P., J.P.H. BURBACH, D.F. SWAAB & F.W. VAN LEEUWEN. 1996. Mutant vassopressin precursors in the human hypothalamus: evidence for neuronal somatic mutations in man. Neuroscience 71: 1025-1030.
22. 22. EVANS, D.A.P., J.P.H. BURBACH & F.W. VAN LEEUWEN. 1995. Somatic mutations in the brain: relationship to aging? Mutat. Res. 338: 173-182.
23. 23. STRACHAN, T. & A.P. READ. 1996. Human Molecular Genetics. Bios Scientific Publishers Ltd. Oxford.
24. 24. YOSHIKAI, S.-I., H. SASAKI, K. DOH-URA, et al. 1990. Genomic organization of the human amyloid beta-protein precursor gene. Gene 87: 257-263.
25. 25. JIN, L.-W., H. NINOMIYA, J.-M. ROCH, et al. 1994. Peptides containing the RERMS sequence of amyloid β/A4 protein precursor bind cell surface and promote neurite extension. J. Neurosci. 14: 5461-5470.
26. 596. Neurobiol. Aging 14: 571-573.
27. 27. WISNIEWSKI, K.E., H.M. WISNIEWSKI & W. GY. 1985. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann. Neurol. 17: 278-282.
28. 28. NEVE, R.L., E.A. FINCH & L.R. DAWES. 1988. Expression of the Alzheimer amyloid precursor gene transcript in the human brain. Neuron 1: 669-677.
29. 29. RUMBLE, B., R. RETALLACK, C. HILBICH, et al. 1989. Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. N. Engl. J. Med. 320: 1446-1452.
30. 30. VARSHAVSKY, A. 1997. The ubiquitin system. Trends Biochem. Sci. 22: 383-387.
31. 31. SCHWARTZ, A.L. & A. CIECHANOVER. 1999. The ubiquitin-proteasome pathway and pathogenesis of human diseases. Annu. Rev. Med. 50: 57-74.
32. 32. MORI, H., J. KONDO & Y. IHARA. 1987. Ubiquitin is a component of paired helical filaments in Alzheimer's disease. Science 235: 1641-1644.
33. 33. MAYER, R.J., J. ARNOLD, L. LÁSLÓ, et al. 1991. Ubiquitin in health and disease. Biochim. Biophys. Acta 1089: 141-157.
34. 34. MAYER, R.J., C. TIPLER, J. ARNOLD, et al. 1996. Endosome-lysosomes, ubiquitin and neurodegeneration. Adv. Exp. Med. Biol. 389: 261-269.
35. 35. MORISHIMA-KAWASHIMA, M., M. HASEGAWA, K. TAKIO, et al. 1993. Ubiquitin is conjugated with amino-terminally processed tau in paired helical filaments. Neuron 10: 1151-1160.
36. 36. HOL, E.M., A. NEUBAUER, D.P.V. DE KLEIJN, et al. 1998. Dinucleotide deletions in neuronal transcripts: a novel type of mutation in non-familial Alzheimer's disease and Down syndrome patients. Progr. Brain Res. 117: 379-394.
37. 37. WIBORG, O., M.S. PEDERSON, A. WIND, et al. 1985. The human ubiquitin multigene family: some genes contain multiple directly repeated ubiquitin coding sequences. EMBO J. 4: 755-759.
38. 38. ADAMS, M.D., M. DUBNICK, A.R. KERLAVAGE, et al. 1992. Sequence identification of 2,375 human brain genes. Nature 355: 632-634.
39. 39. BAKER, R.T. & P.G. BOARD. 1987. The human ubiquitin gene family: structure of a gene and pseudogenes from the UbB subfamily. Nucleic Acids Res. 15: 443-463.
40. 40. BENNE, R. 1996. RNA editing: how a message is changed. Curr. Opin. Genet. Dev. 6: 221-231.
41. 41. BASS, B.L. 1997. RNA editing and hypermutation by adenosine deamination. Trends Biochem. Sci. 22: 157-162.
42. 42. JACQUES, J.P. & D. KOLAKOFSKY. 1991. Pseudo-templated transcription in prokaryotic and eukaryotic organisms. Genes Dev. 5: 707-713.
43. 43. KOLAKOFSKY, D. & S. HAUSMANN. 1998. Co-transcriptional paramyxovirus mRNA editing; a contradiction in terms? In Modification and Editing of RNA. H. Grosjean & R. Benne, Eds.: 413-420. ASM Press. Washington, DC.
44. 44. RADMAN, M. & R. WAGNER. 1988. The high fidelity of DNA duplication. Sci. Am. 259(2): 24-30.
45. 45. KUNKEL, T.A. 1995. The intricacies of eukaryotic spell-checking. Curr. Biol. 5: 1091-1094.
46. 46. PULAK, R. & P. ANDERSON. 1993. mRNA surveillance by the Caenorhabditis elegans smg genes. Genes Dev. 7: 1885-1887.
47. 47. RUIZ-ECHEVARRÍA, M.J., K. CZAPLINSKI & S.W. PELTZ. 1996. Making sense of nonsense in yeast. Trends Biochem. Sci. 21: 433-438.
48. 48. APPLEQUIST, S.E., M. SELG, C. RAMAN & H.-M. JÄCK. 1997. Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. Nucleic Acids Res. 25: 814-821.
49. 49. PERLICK, H.A., S.M. MEDGHALCHI, F.A. SPENCER, et al. 1996. Mammalian orthologues of a yeast regulator of nonsense transcript stability. Proc. Natl. Acad. Sci. USA 93: 10928-10932.
50. 50. FINCH, C.E. 1990. Longevity, Senescence, and the Genome. University of Chicago Press. Chicago.
51. 51. LIN, C.L.G., L.A. BRISTOL, L. JIN, et al. 1998. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 20: 589-602.
52. 52. SONNEMANS, M.A.F., R.A.I. DE VOS, E.H.N. JANSEN, et al. 1999. Molecular misreading of β amyloid precursor protein and ubiquitin B genes in various tauo-and ubiquitopathies. Society of Neurosciences Meeting, Miami, Florida, USA, October 23-28. 25: 836.
53. 53. MCPHAUL, L., J. WANG, S. YUAN, et al. 1999. Frameshift mutants of ubiquitin-B in Mallory body formation in human liver. FASEB J. 13: A736.
54. 54. HOL, E.M., J.A. SLUIJS, M.A.F. SONNEMANS, et al. 1999. Chapter 9. Molecular misreading and accumulation of +1 protein in Alzheimer and Down syndrome patients. In Proceedings of the 6th International Conference on Alzheimer's Disease and Related Disorders. K. Iqbal et al., Eds.: 59-67. Wiley. New York.
55. 55. CRUTS, M., C.M. VAN DUIJN, H. BACKHOVENS, et al. 1998. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum. Mol. Genet. 7: 43-51.
56. 4 allele in a population-based study of early onset Alzheimer's disease. Nat. Genet. 7: 74-78.
57. 57. PERICAK-VANCE, M.A., M.P. BASS, L.H. YA,AOKA, et al. 1997. Complete genomic screen in late-onset familial Alzheimer disease. Guidance for a new locus on chromosome 12. JAMA 278: 1237-1241.