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Gene Review

DDX3Y  -  DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y...

Homo sapiens

Synonyms: ATP-dependent RNA helicase DDX3Y, DBY, DEAD box protein 3, Y-chromosomal
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Disease relevance of DDX3Y


High impact information on DDX3Y

  • There is no Ube1y1 homolog in man, and DBY, either alone or in conjunction with USP9Y, is the favored candidate for an early spermatogenic role [6].
  • This dual DBX/DBY antigen is the first mHA to be identified in the context of chronic GVHD [3].
  • This epitope screen revealed a high frequency CD4(+) T cell response to a single DBY peptide that persisted from 8 to 21 mo after transplant [3].
  • Minor histocompatibility antigen DBY elicits a coordinated B and T cell response after allogeneic stem cell transplantation [3].
  • This antibody response was mapped to two DBY peptides beginning at positions 118 and 536 [3].

Biological context of DDX3Y


Anatomical context of DDX3Y

  • The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control [8].
  • Here we report that human Y- and X-encoded DEAD box RNA helicase proteins DDX3Y and DDX3X are interchangeable and have an essential function: both proteins rescued a temperature-sensitive mutant hamster cell line (tsET24) that was otherwise incapable of growth at a nonpermissive temperature [1].
  • Our results suggest that T cells recognizing the HLA-DQ5/DDX3Y T cell epitope might be characterized by a relatively limited TCR-beta repertoire [2].
  • Moreover, the T cell clone responded equally to mature HLA-DRB1*1501 male and female dendritic cells, indicating that both DBY and DBX peptides were endogenously processed [3].
  • Expression analysis of AZFa genes and their X-homologues revealed ubiquitous expression for all of them except DBY; this gene produces a long transcript which is ubiquitously expressed in addition to a shorter transcript which is only expressed in the testis, suggesting a specific role for DBY in the spermatogenic process [4].

Associations of DDX3Y with chemical compounds

  • As a control for the IsY clones, a second mutant receptor was expressed with a substitution of phenylalanine 1310 with tyrosine only (DBY clones) [9].

Other interactions of DDX3Y

  • RESULTS: The expression of USP9Y, USP9X and DDX3Y was found in all the specimens tested, whereas DDX3Yt1 expression was diminished or undetectable in several biopsies with impaired spermatogenesis [7].
  • By using denaturing HPLC, these two genes, as well as DBY and DFFRY, were screened for polymorphic sites in 53-72 representatives of the five continents [10].
  • We have designed a duplex PCR combining an amplicon from MAOA marking the X chromosome and an amplicon from DDX3Y marking the Y chromosome [11].
  • It contains three genes, USP9Y, DBY and UTY, but only the former two can be at present considered candidate genes for the infertile phenotype associated with deletion of this interval [12].

Analytical, diagnostic and therapeutic context of DDX3Y


  1. Human DDX3Y, the Y-encoded isoform of RNA helicase DDX3, rescues a hamster temperature-sensitive ET24 mutant cell line with a DDX3X mutation. Sekiguchi, T., Iida, H., Fukumura, J., Nishimoto, T. Exp. Cell Res. (2004) [Pubmed]
  2. Minor Histocompatibility Antigen DDX3Y Induces HLA-DQ5-Restricted T Cell Responses with Limited TCR-Vbeta Usage Both In Vivo and In Vitro. Laurin, D., Spierings, E., van der Veken, L.T., Hamrouni, A., Falkenburg, J.H., Souillet, G., Vermeulen, C., Farre, A., Galambrun, C., Rigal, D., Bertrand, Y., Goulmy, E., Eljaafari, A. Biol. Blood Marrow Transplant. (2006) [Pubmed]
  3. Minor histocompatibility antigen DBY elicits a coordinated B and T cell response after allogeneic stem cell transplantation. Zorn, E., Miklos, D.B., Floyd, B.H., Mattes-Ritz, A., Guo, L., Soiffer, R.J., Antin, J.H., Ritz, J. J. Exp. Med. (2004) [Pubmed]
  4. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Foresta, C., Ferlin, A., Moro, E. Hum. Mol. Genet. (2000) [Pubmed]
  5. Exocytosis plays an important role in catecholamine secretion from human pheochromocytoma. Kobayashi, K., Miura, Y., Tomioka, H., Sakuma, H., Adachi, M., Sato, T., Yoshinaga, K. Clin. Chim. Acta (1978) [Pubmed]
  6. A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis. Mazeyrat, S., Saut, N., Grigoriev, V., Mahadevaiah, S.K., Ojarikre, O.A., Rattigan A, n.u.l.l., Bishop, C., Eicher, E.M., Mitchell, M.J., Burgoyne, P.S. Nat. Genet. (2001) [Pubmed]
  7. Expression profile of AZF genes in testicular biopsies of azoospermic men. Kleiman, S.E., Yogev, L., Hauser, R., Botchan, A., Maymon, B.B., Paz, G., Yavetz, H. Hum. Reprod. (2007) [Pubmed]
  8. The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. Ditton, H.J., Zimmer, J., Kamp, C., Rajpert-De Meyts, E., Vogt, P.H. Hum. Mol. Genet. (2004) [Pubmed]
  9. Tyrosine residues in the C-terminal domain of the insulin-like growth factor-I receptor mediate mitogenic and tumorigenic signals. Esposito, D.L., Blakesley, V.A., Koval, A.P., Scrimgeour, A.G., LeRoith, D. Endocrinology (1997) [Pubmed]
  10. Population genetic implications from sequence variation in four Y chromosome genes. Shen, P., Wang, F., Underhill, P.A., Franco, C., Yang, W.H., Roxas, A., Sung, R., Lin, A.A., Hyman, R.W., Vollrath, D., Davis, R.W., Cavalli-Sforza, L.L., Oefner, P.J. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  11. Combination of 768-well microplate array diagonal gel electrophoresis with duplex PCR of X and Y chromosome markers for quality control of epidemiological DNA banks. Huang, S., Chen, X.H., Day, I.N. Electrophoresis (2006) [Pubmed]
  12. Role of the AZFa candidate genes in male infertility. Foresta, C., Moro, E., Rossi, A., Rossato, M., Garolla, A., Ferlin, A. J. Endocrinol. Invest. (2000) [Pubmed]
  13. Antibody response to DBY minor histocompatibility antigen is induced after allogeneic stem cell transplantation and in healthy female donors. Miklos, D.B., Kim, H.T., Zorn, E., Hochberg, E.P., Guo, L., Mattes-Ritz, A., Viatte, S., Soiffer, R.J., Antin, J.H., Ritz, J. Blood (2004) [Pubmed]
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