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PMID: 9618513 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A yeast model for the study of Batten disease.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 95 ·No. 12 ·1998-06-09 ·Pages 6915-8

Pearce DA, Sherman F

Abstract

Although the CLN3 gene for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995, the function of the corresponding protein still remains elusive. We previously cloned the Saccharomyces cerevisiae homologue to the human CLN3 gene, designated BTN1, which is not essential and whose product is 39% identical and 59% similar to Cln3p. We report that btn1-Delta deletion yeast strains are more resistant to D-(-)-threo-2-amino-1-[p-nitrophenyl]-1,3-propanediol (denoted ANP), a phenotype that is complemented in yeast by the human CLN3 gene. Furthermore, the severity of Batten disease in humans and the degree of ANP resistance in yeast are related when the equivalent amino acid replacements in Cln3p and Btn1p are compared. These results indicate that yeast can be used as a model for the study of Batten disease.

MeSH Terms
Chloramphenicol/analogs & derivatives,pharmacology Cyclins Drug Resistance, Microbial Gene Deletion Gene Expression Regulation, Fungal Genes, Fungal Humans Membrane Glycoproteins/genetics Molecular Chaperones/genetics Neuronal Ceroid-Lipofuscinoses/genetics Protein Synthesis Inhibitors/pharmacology Saccharomyces cerevisiae/drug effects,genetics Saccharomyces cerevisiae Proteins
Chemicals
CLN3 protein, S cerevisiae CLN3 protein, human Cyclins Membrane Glycoproteins Molecular Chaperones Protein Synthesis Inhibitors Saccharomyces cerevisiae Proteins YHC3 protein, S cerevisiae Chloramphenicol
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Pearce D A
Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA. dpea@bphvax.biophysics.rochester.edu
Sherman F
References (34)
34 references, click to expand
  1. The structural gene for yeast cytochrome C.
    Proc Natl Acad Sci U S A. 1966 Jun;55(6):1498-504 PMID: 5227668
  2. Getting started with yeast.
    Methods Enzymol. 1991;194:3-21 PMID: 2005794
  3. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis).
    Biochem J. 1991 Apr 1;275 ( Pt 1):269-72 PMID: 1826833
  4. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease).
    J Biochem. 1992 Feb;111(2):278-82 PMID: 1533218
  5. Evidence for lipase abnormality: high levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinosis tissue.
    Am J Med Genet. 1992 Feb 15;42(4):549-54 PMID: 1609837
  6. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease).
    Am J Med Genet. 1992 Feb 15;42(4):561-7 PMID: 1535179
  7. The adult and a new late adult forms of neuronal ceroid lipofuscinosis.
    Acta Neuropathol. 1992;83(5):461-8 PMID: 1621503
  8. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.
    Am J Hum Genet. 1993 Jan;52(1):89-95 PMID: 8434611
  9. 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. 1993 Oct;53(4):931-5 PMID: 8213822
  10. Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.
    Am J Hum Genet. 1994 Jan;54(1):88-94 PMID: 8279474
  11. The functioning of the yeast Golgi apparatus requires an ER protein encoded by ANP1, a member of a new family of genes affecting the secretory pathway.
    EMBO J. 1994 Oct 17;13(20):4896-907 PMID: 7957057
  12. Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease).
    J Neurochem. 1995 Feb;64(2):733-41 PMID: 7830067
  13. Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease).
    Am J Med Genet. 1995 Jun 5;57(2):254-9 PMID: 7668341
  14. Batten disease and the ATP synthase subunit c turnover pathway: raising antibodies to subunit c.
    Am J Med Genet. 1995 Jun 5;57(2):260-5 PMID: 7668342
  15. Physical map of the region containing the gene for Batten disease (CLN3).
    Am J Med Genet. 1995 Jun 5;57(2):316-9 PMID: 7668354
  16. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
    Cell. 1995 Sep 22;82(6):949-57 PMID: 7553855
  17. The neuronal ceroid-lipofuscinoses.
    J Child Neurol. 1995 Nov;10(6):424-37 PMID: 8576551
  18. The newly identified yeast GRD genes are required for retention of late-Golgi membrane proteins.
    Mol Cell Biol. 1996 Jun;16(6):2700-7 PMID: 8649377
  19. Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
    Acta Neuropathol. 1997 Apr;93(4):379-90 PMID: 9113203
  20. BTN1, a yeast gene corresponding to the human gene responsible for Batten's disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase.
    Yeast. 1997 Jun 30;13(8):691-7 PMID: 9219333
  21. A review of phenotypes in Saccharomyces cerevisiae.
    Yeast. 1997 Sep 30;13(12):1099-133 PMID: 9301019
  22. Spectrum of mutations in the Batten disease gene, CLN3.
    Am J Hum Genet. 1997 Aug;61(2):310-6 PMID: 9311735
  23. Immunochemical localization of the Batten disease (CLN3) protein in retina.
    Invest Ophthalmol Vis Sci. 1997 Oct;38(11):2375-86 PMID: 9344361
  24. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
    Hum Mol Genet. 1998 Jan;7(1):85-90 PMID: 9384607
  25. Differential ubiquitin-dependent degradation of the yeast apo-cytochrome c isozymes.
    J Biol Chem. 1997 Dec 12;272(50):31829-36 PMID: 9395529
  26. Multi-protein complexes in the cis Golgi of Saccharomyces cerevisiae with alpha-1,6-mannosyltransferase activity.
    EMBO J. 1998 Jan 15;17(2):423-34 PMID: 9430634
  27. Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies.
    J Neurol Sci. 1973 Mar;18(3):269-85 PMID: 4121459
  28. Structural gene for yeast iso-2-cytochrome c.
    J Mol Biol. 1977 Jun 25;113(2):369-84 PMID: 196092
  29. An extensive deletion causing overproduction of yeast iso-2-cytochrome c.
    Cell. 1981 Aug;25(2):409-19 PMID: 6269746
  30. Transformation of intact yeast cells treated with alkali cations.
    J Bacteriol. 1983 Jan;153(1):163-8 PMID: 6336730
  31. Rapid and efficient site-specific mutagenesis without phenotypic selection.
    Methods Enzymol. 1987;154:367-82 PMID: 3323813
  32. Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16.
    Clin Genet. 1989 Oct;36(4):217-8 PMID: 2805379
  33. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
    Genomics. 1991 Jan;9(1):170-3 PMID: 1672288
  34. Nonchromosomal antibiotic resistance in bacteria: genetic transformation of Escherichia coli by R-factor DNA.
    Proc Natl Acad Sci U S A. 1972 Aug;69(8):2110-4 PMID: 4559594
Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.95.12.6915
Email
dpea@bphvax.biophysics.rochester.edu
Published
1998-06-09
Pages
6915-8
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC22684
Subset
IM
Grants
NINDS NIH HHS · R01 NS036610 · United States
NINDS NIH HHS · R01 NS36610 · United States
External Links
PubMed source DOI: 10.1073/pnas.95.12.6915 PMC Full Text View journal details
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