Molecular investigation of TBP allele length: a SCA17 cellular model and population study

Neurobiol Dis. 2003 Jun;13(1):37-45. doi: 10.1016/s0969-9961(03)00014-7.

Abstract

Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP). The normal repeat range is 25-42 units with patients having as few as 46 repeats. We undertook a TBP repeat length population study showing its relative stability, skewed distribution, and substantial population specific differences. To investigate the mechanism of neurodegeneration in SCA17 we have developed a cellular model expressing full-length TBP with a range of polyQ expansions. As has been found with other polyQ cellular models, insoluble intracellular inclusions form in a repeat-length-dependent manner. In addition, we have shown that the expanded TBP polyQ tract is able to interact with other overexpressed polyQ-containing proteins. Importantly, overexpression of expanded TBP results in increased Cre-dependent transcriptional activity. As TBP is required for transcription by all RNA polymerases, this may indicate a mechanism for aberrant polyQ gain of function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line
  • Gene Frequency
  • Genes, Reporter
  • Genotype
  • Green Fluorescent Proteins
  • Humans
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology
  • Integrases / metabolism
  • Luminescent Proteins / genetics
  • Mice
  • Neuroblastoma / metabolism
  • Neurons / metabolism
  • Neurons / pathology
  • Peptides / genetics
  • Peptides / metabolism
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Solubility
  • Spinocerebellar Ataxias / genetics*
  • Structure-Activity Relationship
  • TATA-Box Binding Protein / biosynthesis
  • TATA-Box Binding Protein / chemistry
  • TATA-Box Binding Protein / genetics*
  • Transcription, Genetic
  • Transfection
  • Trinucleotide Repeat Expansion / physiology*
  • Trinucleotide Repeats / genetics*
  • Viral Proteins / metabolism
  • White People / genetics

Substances

  • Luminescent Proteins
  • Peptides
  • Recombinant Fusion Proteins
  • TATA-Box Binding Protein
  • Viral Proteins
  • Green Fluorescent Proteins
  • polyglutamine
  • Cre recombinase
  • Integrases