Genomic organization of the human complex I 13-kDa subunit gene NDUFA5

Cytogenet Cell Genet. 1999;84(1-2):125-7. doi: 10.1159/000015237.

Abstract

We have characterized the human gene NDUFA5 encoding a 13-kDa subunit of the mitochondrial respiratory chain complex I (NADH: ubiquinone oxidoreductase). The gene contains 5 exons and 4 introns, and spans 14 kb of genomic DNA. In the untranscribed region we observed potential transcription factor binding sites. We determined a single nucleotide variant (C/T) at -318, and its frequency in the German population. The functional gene was localised by FISH to 7q31 and by radiation hybrid panel near marker D7S648 in YAC 883_a_2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Cricetinae
  • DNA / genetics
  • Electron Transport Complex I / genetics*
  • Exons
  • Gene Frequency
  • Genes, Regulator
  • Genetic Markers
  • Genetic Variation
  • Humans
  • Hybrid Cells
  • In Situ Hybridization, Fluorescence
  • Introns
  • Molecular Sequence Data
  • Molecular Weight
  • NAD(P)H Dehydrogenase (Quinone) / chemistry
  • NAD(P)H Dehydrogenase (Quinone) / genetics*
  • NADH Dehydrogenase

Substances

  • Genetic Markers
  • NDUFA5 protein, human
  • DNA
  • NAD(P)H Dehydrogenase (Quinone)
  • NADH Dehydrogenase
  • Electron Transport Complex I

Associated data

  • GENBANK/AF044415
  • GENBANK/AF044416
  • GENBANK/AF044417
  • GENBANK/AF044418