title: 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.
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.
authors.affiliation: Department of Hygiene and Preventive Medicine, Yamagata University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Omoe
authors.forename: A
authors.initials: A
authors.lastname: Endo
mesh_terms: D000818:Animals; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008322:Mammals / Q000235:genetics; D008969:Molecular Sequence Data; D009006:Monosomy; D010641:Phenotype; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D012269:Ribosomal Proteins / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D017931:DNA Primers; D012269:Ribosomal Proteins; C031798:ribosomal protein S4