Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus

Genomics. 1998 Mar 15;48(3):384-8. doi: 10.1006/geno.1997.5166.


We have mapped the chromosomal locations of three human nuclear genes for putative components of the apparatus of mitochondrial gene expression, using a combination of in situ hybridization and interspecies hybrid mapping. The genes RPMS12 (mitoribosomal protein S12, a conserved protein component of the mitoribosomal accuracy center), TUFM (mitochondrial elongation factor EF-Tu), and AFG3L1 (similar to the yeast genes Afg3 and Rca1 involved in the turnover of mistranslated or misfolded mtDNA-encoded polypeptides) were initially characterized by a combination of database sequence analysis, PCR, cloning, and DNA sequencing. RPMS12 maps to chromosome 19q13.1, close to the previously mapped gene for autosomal dominant hearing loss DFNA4. The TUFM gene is located on chromosome 16p11.2, with a putative pseudogene or variant (TUFML) located very close to the centromere of chromosome 17. AFG3L1 is located on chromosome 16q24, very close to the telomere. By virtue of their inferred functions in mitochondria, these genes should be regarded as candidates of disorders sharing features with mitochondrial disease syndromes, such as sensorineural deafness, diabetes, and retinopathy.

Publication types

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

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 19
  • Cloning, Molecular
  • DNA, Mitochondrial / genetics*
  • Deafness / genetics
  • Gene Expression
  • Humans
  • In Situ Hybridization
  • Metalloendopeptidases*
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Peptide Elongation Factor Tu / genetics*
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Pseudogenes
  • Ribosomal Proteins / genetics*
  • Sequence Analysis, DNA


  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • Proteins
  • Ribosomal Proteins
  • mitochondrial ribosomal protein S12
  • AFG3L1P protein, human
  • Metalloendopeptidases
  • Peptide Elongation Factor Tu
  • ATPases Associated with Diverse Cellular Activities

Associated data

  • GENBANK/AJ001495
  • GENBANK/AJ001496
  • GENBANK/AJ001497