Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

Nat Genet. 1999 May;22(1):55-8. doi: 10.1038/8861.

Abstract

Neuronal ceroid-lipofuscinoses (NCL) are autosomal recessive disorders that form the most common group of progressive neurodegenerative diseases in children, with an incidence as high as 1 in 12,500 live births, and with approximately 440,000 carriers in the United States. Disease progression is characterized by a decline in mental abilities, increased severity of untreatable seizures, blindness, loss of motor skills and premature death. The CLN3 gene, which is responsible for Batten disease, has been positionally cloned. The yeast gene, denoted BTN1, encodes a non-essential protein that is 39% identical and 59% similar to human CLN3. Strains lacking Btn1p, btn1-delta, are resistant to D-(-)-threo-2-amino-1-[p-nitrophenyl]-1,3-propanediol (ANP) in a pH-dependent manner. This phenotype was complemented by expression of human CLN3, demonstrating that yeast Btn1p and human CLN3 share the same function. Here, we report that btn1-delta yeast strains have an abnormally acidic vacuolar pH in the early phases of growth. Furthermore, DNA microarray analysis of BTN1 and btn1-delta strains revealed differential expression of two genes, with at least one, HSP30, involved in pH control. Because Btn1p is located in the vacuole, we suggest that Batten disease is caused by a defect in vacuolar (lysosomal) pH control. Our findings draw parallels between fundamental biological processes in yeast and previously observed characteristics of neurodegeneration in humans.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Division
  • Cyclins*
  • Fungal Proteins / genetics
  • Gene Expression Regulation, Fungal
  • Genes, Fungal / genetics*
  • HSP30 Heat-Shock Proteins
  • Heat-Shock Proteins / genetics
  • Humans
  • Hydrogen-Ion Concentration
  • Membrane Glycoproteins*
  • Membrane Proteins / genetics
  • Molecular Chaperones*
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Proteins / genetics*
  • Proton-Translocating ATPases / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Saccharomyces cerevisiae / cytology
  • Saccharomyces cerevisiae / enzymology
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae Proteins*
  • Vacuoles / metabolism

Substances

  • CLN3 protein, S cerevisiae
  • CLN3 protein, human
  • Cyclins
  • Fungal Proteins
  • HSP30 Heat-Shock Proteins
  • HSP30 protein, S cerevisiae
  • Heat-Shock Proteins
  • Membrane Glycoproteins
  • Membrane Proteins
  • Molecular Chaperones
  • Proteins
  • RNA, Messenger
  • Saccharomyces cerevisiae Proteins
  • YHC3 protein, S cerevisiae
  • Proton-Translocating ATPases