A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast

Genomics. 1995 Oct 10;29(3):690-7. doi: 10.1006/geno.1995.9950.

Abstract

A new human gene has been identified on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1) by analysis of a genomic cosmid clone and cDNAs. The gene contains at least one intron and is actively transcribed in tissues from kidney and brain. The putative gene product is predicted to be homologous to the yeast scERV1 protein by virtue of the high degree of identity (42%) over the entire length of the polypeptides. In former studies the yeast scERV1 gene was found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell-division cycle. In this study a yeast expression vector with a chimeric reading frame coding for the first 21 amino acids of the yeast protein and the terminal 100 amino acid residues of the human factor was transformed into yeast mutants with two different defects for scERV1. The chimeric human gene product was able to complement the yeast mutants and restored near normal viability. This identifies the human gene as a structural and functional homologue of the scERV1 gene.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Brain / metabolism
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16*
  • Cloning, Molecular
  • Conserved Sequence
  • Cosmids
  • DNA Primers
  • Fungal Proteins / biosynthesis
  • Fungal Proteins / genetics*
  • Gene Expression
  • Humans
  • Kidney / metabolism
  • Mitochondrial Proteins*
  • Molecular Sequence Data
  • Mutagenesis
  • Oxidoreductases Acting on Sulfur Group Donors
  • Polycystic Kidney Diseases / genetics*
  • Polymerase Chain Reaction
  • Protein Biosynthesis
  • Proteins / genetics*
  • Restriction Mapping
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae / growth & development
  • Saccharomyces cerevisiae / metabolism
  • Saccharomyces cerevisiae Proteins*
  • Sequence Homology, Amino Acid
  • TRPP Cation Channels
  • Transcription, Genetic

Substances

  • DNA Primers
  • Fungal Proteins
  • Mitochondrial Proteins
  • Proteins
  • Saccharomyces cerevisiae Proteins
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • Oxidoreductases Acting on Sulfur Group Donors
  • ERV1 protein, S cerevisiae

Associated data

  • GENBANK/U31176