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Gene Review

RPS4Y1  -  ribosomal protein S4, Y-linked 1

Homo sapiens

Synonyms: 40S ribosomal protein S4, Y isoform 1, MGC119100, MGC5070, PRO2646, RPS4Y, ...
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High impact information on RPS4Y1

  • 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 [1].
  • On the Y chromosome, RPS4Y maps to a 90 kb segment that has been implicated in Turner syndrome [2].
  • Transcripts detected include antisense SRY sequences and XG approximately RPS4Y hybrid transcripts [3].
  • Molecular evolutionary rate estimation reveals significantly elevated rates of DNA and protein evolution in RPS4Y compared with its X-chromosome homologs [4].
  • The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y [5].

Biological context of RPS4Y1

  • Two isoforms of the human ribosomal protein S4 gene, RPS4X and RPS4Y, are located on the X and Y chromosomes [6].
  • An Asian-Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping [7].
  • Complete coding and additional flanking sequences (949 base pairs) of the RPS4Y locus were determined in 59 individuals from three of the populations, revealing a nucleotide diversity of 0.0147%, consistent with previous estimates from Y chromosome resequencing studies [7].
  • The RPS4Y 711C > T variant, a second unique sequence variant at DYS287 and nine Y chromosome short tandem repeat (YSTR) loci were used to analyze the evolution of Y chromosome lineages [7].
  • The M9 (G) and RPS4Y (T) polymorphisms show greater variance in these five populations and are informative and sensible in Chinese population genetic research, while the other four are less polymorphic [8].

Anatomical context of RPS4Y1

  • The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans [5].


  1. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Watanabe, M., Zinn, A.R., Page, D.C., Nishimoto, T. Nat. Genet. (1993) [Pubmed]
  2. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Fisher, E.M., Beer-Romero, P., Brown, L.G., Ridley, A., McNeil, J.A., Lawrence, J.B., Willard, H.F., Bieber, F.R., Page, D.C. Cell (1990) [Pubmed]
  3. The human Y chromosome homologue of XG: transcription of a naturally truncated gene. Weller, P.A., Critcher, R., Goodfellow, P.N., German, J., Ellis, N.A. Hum. Mol. Genet. (1995) [Pubmed]
  4. Evolution of RPS4Y. Bergen, A.W., Pratt, M., Mehlman, P.T., Goldman, D. Mol. Biol. Evol. (1998) [Pubmed]
  5. Absence of Turner stigmata in a 46,XYp-female. Müller, U., Kirkels, V.G., Scheres, J.M. Hum. Genet. (1992) [Pubmed]
  6. 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. Omoe, K., Endo, A. Genomics (1996) [Pubmed]
  7. An Asian-Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping. Bergen, A.W., Wang, C.Y., Tsai, J., Jefferson, K., Dey, C., Smith, K.D., Park, S.C., Tsai, S.J., Goldman, D. Ann. Hum. Genet. (1999) [Pubmed]
  8. The distribution of six biallelic polymorphisms on non-recombining segments of the Y-chromosome in five Chinese populations. Huang, X., Xue, Y., Liu, Y., Liu, P., Zhang, C., Li, P., Fu, S. Anthropologischer Anzeiger; Bericht über die biologisch-anthropologische Literatur. (2004) [Pubmed]
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