Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome.
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.
Watanabe
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M
Department of Molecular Biology, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
Zinn
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Nishimoto
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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
D012269:Ribosomal Proteins; C031798:ribosomal protein S4; D004247:DNA