The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins

H Jin, E Kendall, T C Freeman, R G Roberts, D L Vetrie

Research output: Contribution to journalArticlepeer-review

Abstract

The gene responsible for the human genetic neurodegenerative disorder DFN-1/MTS encodes a small protein known as deafness/dystonia peptide (DDP). It bears a strong resemblance to a recently characterized set of zinc-binding yeast proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) that are implicated in the import of a class of transmembrane carrier proteins from the cytoplasm to the mitochondrial inner membrane. We describe here the human complement of DDP/Tim-like proteins and establish the likely orthologous relationships between sequences from human, yeast, and other organisms. We also describe the expression patterns and chromosomal locations of their genes, which are candidate loci for autosomal recessive neurodegenerative disorders.
Original languageEnglish
Pages (from-to)259-67
Number of pages9
JournalGenomics
Volume61
Issue number3
DOIs
Publication statusPublished - 1 Nov 1999

Keywords

  • Amino Acid Sequence
  • Blotting, Northern
  • Carrier Proteins
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Deafness
  • Dystonia
  • Humans
  • In Situ Hybridization, Fluorescence
  • Mitochondria
  • Molecular Sequence Data
  • Phylogeny
  • Proteins
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Yeasts

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