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

M. Watanabe, A. R. Zinn, D. C. Page, T. Nishimoto

Research output: Contribution to journalArticle

101 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)268-271
Number of pages4
JournalNature genetics
Volume4
Issue number3
DOIs
StatePublished - Jul 1993

ASJC Scopus subject areas

  • Genetics

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