Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome

Nat Genet. 1993 Jul;4(3):268-71. doi: 10.1038/ng0793-268.

Abstract

Several genes are found on both the human X and Y chromosomes in regions that do not recombine during male meiosis. In each case, nucleotide sequence analysis suggests that these X-Y gene pairs encode similar but nonidentical proteins. Here we show that the human Y- and X-encoded ribosomal proteins, RPS4Y and RPS4X, are interchangeable and provide an essential function: either protein rescued a mutant hamster cell line that was otherwise incapable of growth at modestly elevated temperatures. These findings are consistent with the hypothesis that RPS4 deficiency has a role in Turner syndrome, a complex human phenotype associated with monosomy X.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cricetinae
  • DNA / genetics
  • Female
  • Genetic Complementation Test
  • Humans
  • Hybrid Cells / metabolism
  • Male
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Ribosomal Proteins / genetics*
  • Temperature
  • Turner Syndrome / genetics*
  • X Chromosome*
  • Y Chromosome*

Substances

  • Ribosomal Proteins
  • ribosomal protein S4
  • DNA

Associated data

  • GENBANK/D11087