title: Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome.
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.
authors.affiliation: Department of Molecular Biology, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: A R
authors.initials: AR
authors.lastname: Zinn
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: T
authors.initials: T
authors.lastname: Nishimoto
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D006224:Cricetinae; D004247:DNA / Q000235:genetics; D005260:Female; D005816:Genetic Complementation Test; D006801:Humans; D006822:Hybrid Cells / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D012269:Ribosomal Proteins / Q000235:genetics*; D013696:Temperature; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D012269:Ribosomal Proteins; C031798:ribosomal protein S4; D004247:DNA