From locus to cellular disturbances: Positional cloning of the infantile neuronal ceroid lipofuscinosis gene

Neuropediatrics

Volumn 28, Issue 1, 1997, Pages 9-11

  Hellsten, Elina ^a   Vesa, Jouni ^a   Jalanko, Anu ^a   Peltonen, Leena ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

Brain disorders; Lysosomal enzymes; Palmitoylation

Indexed keywords

LYSOSOME ENZYME; PALMITOYL PROTEIN THIOESTERASE; SOMATOMEDIN B RECEPTOR; THIOL ESTER HYDROLASE; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; BRAIN TISSUE; CHILD; CONFORMATION; DISEASE COURSE; ENZYME ACTIVITY; GENE ISOLATION; GENE LOCUS; GENE MUTATION; HUMAN; LYSOSOME; MENTAL DETERIORATION; NEURONAL CEROID LIPOFUSCINOSIS; PERSISTENT VEGETATIVE STATE; PRIORITY JOURNAL; SHORT SURVEY; VISUAL IMPAIRMENT;

EID: 0030833657     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973655     Document Type: Short Survey

References (27)

1. Bizzozero, O. A., L. K. Good: Rapid metabolism of fatty acids covalently bound to myelin proteolipid protein. J. Biol. Chem 266 (1991) 17092-17098
2. Buckler, A J., D. D. Chang, S. L. Graw, D. J. Brook, D. A. Haber, P. A. Sharp, D. E. Housman: Exon amplification a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88 (1991) 4005-4009
3. Camp, L. A., S. L. Hofmann. Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J. Biol. Chem. 268 (1993) 22566-22574
4. Camp, L. A., L A. Verkruyse, S. J. Afendis, C. A. Slaughter, S. L. Hofmann: Molecular cloning and expression of palmitoyl-protein thioesterase. J. Biol. Chem. 269 (1994) 23212-23219
5. Collins, F S.: Positional cloning moves from perditional to traditional Nature Genet 9 (1995) 347-350
6. Gardiner, M., A. Sandford, M Deadman, J. Poulton, W. Cookson, S Reeders, I. Jokiaho, L. Peltonen, H. Eiberg, C. Julier: Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics 8 (1990) 387-390
7. Haltia, M.: Infantile neuronal ceroid lipofuscinosis neuropathological aspects In: Armstrong, D., N. Koppang, J. A. Rider (Eds.), Ceroidlipofuscinosis (Batten's disease). Amsterdam, Elsevier Biomedical Press (1982) 105-115
8. Heiskanen, M., E. Hellsten, O.-P. Kallioniemi, T P. Malekä, K Alitalo, L. Peltonen, A. Palotie: Visual mapping by fiber-FISH. Genomics 30 (1995) 31-36
9. Hellsten, E., J. Vesa, M. C. Speer, T. P. Mäkela, I. Järvelä, K. Alitalo, J. Ott, L. Peltonen: Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL; CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16 (1993) 720-725
10. Hellsten, E., J. Vesa, M. Heiskanen, T P. Mäkelä, I. Järvela, J. K. Cowell, S. Mead, K. Alitalo, A. Palotie, L. Peltonen: Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. Genomics 25 (1995) 404-412
11. Hellsten, E., J. Vesa, V. Olkkonen, A. Jalanko, L. Peltonen: Human palmitoyl protein thioesterase, evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J 15 (1996) 5240-5245
12. Jarvelä, I.: Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus Genomics 10 (1991) 333-337
13. Järvelä, I., J. Schleutker, L. Haataja, P. Santavuori, L. Puhakka, T. Manninen, L. Palotie, L. A. Sandkuijl, M. Renlund, R. White, P. Aula, L. Peltonen: Infantile neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 9 (1991) 170-173
14. Lovett, M , J. Kere, L. M. Hinten: Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc. Natl. Acad. Sci, USA 88 (1991) 9628-9632
15. N-ras. EMBO J. 6 (1987) 3353-3357
16. Omary, M. B., I. S. Trownbridge: Biosynthesis of the human transferrin receptor in cultured cells. J Biol. Chem. 256 (1981) 12888-12892
17. Rapola, J., M. Haltia: Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid lipofuscinosis. Brain 96 (1973) 833-840
18. Santavuori, P., M. Haltia, J. Rapola: Infantile type of so-called neuronal ceroid lipofuscinosis. Dev. Med Child Neurol. 16 (1974) 644-653
19. Savukoski, M , M. Kestila, R. Williams, I. Järvela, J Sharp, J. Harris, P. Santavuori, M. Gardiner, L. Peltonen. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am. J. Hum. Genet. 55 (1994) 695-701
20. Schmidt, M. F. G.: Fatty acylation of proteins. Biochem. Biophys. Acta 988 (1989) 411-426
21. Sepp-Lorenzino, L., P. S. Coleman, J. N. Larocca: Isoprenylated proteins in myelin. J Neurochem. 62 (1994) 1539-1545
22. Tarkkanen, A., N. Haltia, L. Merenmies: Ocular pathology in infantile type of neuronal ceroid-lipofuscinosis. J. Pediatr. Ophthalmol. 14 (1977) 235-241
23. Tyynelä, J., D. N. Palmer, M. Baumann, M. Haltia: Storage of saposins A and D in infantile neuronal ceroid lipofuscinosis. FEBS Letters 330 (1993) 8-12
24. Vesa, J., E. Hellsten, T. P. Mäkelä, I. Jarvelä, T. Airaksinen, P. Santavuori, L. Peltonen: A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification. Eur. J. Hum. Genet. 1 (1993) 125-132
25. Vesa, J., E. Hellsten, B. L. Barnoski, B. S. Emanuel, J. T Billheimer, S. Mead, J. K. Cowell, J. F. Strauss, L. Peltonen: Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis. Hum. Mol. Genet 3 (1994) 341-346
26. Vesa, J., E. Hellsten, L. A. Verkruyse, L. A. Camp, J. Rapola, P. Santavuori, S. L. Hofmann. L. Peltonen: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376 (1995) 584-587
27. Williams, R., J. Vesa, I. Jarvelä, T. McKay, H. Mitchson, E. Hellsten, A. Thompson, D. Callen, G. Sutherland, D. Luna-Battadano, R. Stallings, L. Peltonen, M. Gardiner: Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease, CLN2) is not an allelic form of the juvenile or infantile subtypes Am J. Hum. Genet. 53 (1993) 931-935