Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs

Genomics. 1996 Jan 1;31(1):44-50. doi: 10.1006/geno.1996.0007.

Abstract

Two isoforms of the human ribosomal protein S4 gene, RPS4X and RPS4Y, are located on the X and Y chromosomes. It has been postulated that haploinsufficiency of these genes may contribute to Turner syndrome. We show here that several animal species that show the Turner-like phenotype on monosomy X have no Y-linked Rps4 homolog. There may be another gene(s) that contributes to abnormal phenotypes of monosomy X. Molecular evolutionary analysis shows that the Y-linked and RPS4X-related homologs diverged prior to the radiation of placental mammals and evolved independently. Furthermore, the functional constraints against the RPS4X-related homologs are much stronger than those against the Y-linked homologs.

Publication types

  • Comparative Study

MeSH terms

  • Animals
  • Base Sequence
  • DNA Primers / genetics
  • Evolution, Molecular
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mammals / genetics
  • Molecular Sequence Data
  • Monosomy*
  • Phenotype
  • Phylogeny
  • Polymerase Chain Reaction
  • Ribosomal Proteins / genetics*
  • Turner Syndrome / genetics
  • X Chromosome / genetics*
  • Y Chromosome / genetics*

Substances

  • DNA Primers
  • Ribosomal Proteins
  • ribosomal protein S4

Associated data

  • GENBANK/D50104
  • GENBANK/D50105
  • GENBANK/D50106
  • GENBANK/D50107
  • GENBANK/D50108
  • GENBANK/D50109
  • GENBANK/D50110