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Gene Review

DAZL  -  deleted in azoospermia-like

Homo sapiens

Synonyms: DAZ homolog, DAZ-like autosomal, DAZH, DAZL1, DAZLA, ...
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Disease relevance of DAZL

  • Y-chromosomal DAZ (deleted in azoospermia) and autosomal DAZ-like (DAZL) comprise a gene family involved in gametogenesis [1].
  • CONCLUSION: In a selected Caucasian population, the DAZL SNP 386 is completely absent and SNP 260 is not associated with spermatogenic failure and therefore does not represent a molecular marker for genetic diagnosis of male infertility [2].
  • CONCLUSIONS: These observations suggest that seminoma and breast carcinoma express a common stem cell profile and that the expression of DAZL and VASA in seminoma mark the germ cell origin of seminoma that is absent in breast carcinoma [3].
  • Characterization of the mouse Dazap1 gene encoding an RNA-binding protein that interacts with infertility factors DAZ and DAZL [4].
  • Our results demonstrate high similarity between the human DAZL1 and the mouse Dazl1 gene expression patterns during embryonic development, suggesting that the human gene functions at the first phase of gametogenesis, just as in the mouse, where Dazl1 mutations cause male and female sterility [5].

High impact information on DAZL

  • The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis [6].
  • Pum2 also interacts with the Xenopus homolog of human Deleted for Azoospermia-like (DAZL) and the embryonic poly(A)-binding protein (ePAB) [7].
  • In the present study, we investigated the cellular functions of Dazl in the mouse male germ cells [8].
  • In order to directly address the function of vertebrate DAZL proteins, we have used Xenopus laevis oocytes as a model system [9].
  • Germ-line transmission of the transgene occurred, and its expression correlated with significant reductions in DAZL protein levels and male sterility, and the knockdown was stable over multiple generations (F(1)-F(3)) [10].

Biological context of DAZL


Anatomical context of DAZL

  • This leads to an attractive hypothesis whereby DAZL proteins activate translationally silent mRNAs during germ cell development through the direct recruitment of PABPs [9].
  • SPGYLA encodes an RNA binding protein expressed only in the human male gonad [13].
  • Further observations using human tissues indicate that, unlike DAZ, human DAZL protein persists in spermatids and even spermatozoa [14].
  • Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men [15].
  • In blastocysts, DAZL transcripts were only detected in those of good quality and this as well in the inner cell mass (ICM) as in the trophectoderm (TE) [16].

Associations of DAZL with chemical compounds


Enzymatic interactions of DAZL


Other interactions of DAZL

  • We also show that PUM2 is expressed predominantly in human embryonic stem cells and germ cells and colocalizes with DAZ and DAZL in germ cells [20].
  • We confirmed that the interacting proteins, PUM2 and DAZL, are capable of binding the same RNA target and further characterized mRNA sequences bound by both proteins in the 3'UTR of human SDAD1 mRNA [12].
  • Evolutionary comparison of the reproductive genes, DAZL and BOULE, in primates with and without DAZ [21].
  • CONCLUSION(S): The expression patterns of DAZAP1 and DAZL are identical within rat and human ovaries [22].
  • Recently a polymorphism in the deleted in azoospermia-like (DAZL) gene (T54A) was reported as susceptibility factor to oligo/azoospermia in the Chinese population [23].

Analytical, diagnostic and therapeutic context of DAZL


  1. Partial rescue of the Dazl knockout mouse by the human DAZL gene. Vogel, T., Speed, R.M., Ross, A., Cooke, H.J. Mol. Hum. Reprod. (2002) [Pubmed]
  2. No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population. Tschanter, P., Kostova, E., Luetjens, C.M., Cooper, T.G., Nieschlag, E., Gromoll, J. Hum. Reprod. (2004) [Pubmed]
  3. Human embryonic stem cell genes OCT4, NANOG, STELLAR, and GDF3 are expressed in both seminoma and breast carcinoma. Ezeh, U.I., Turek, P.J., Reijo, R.A., Clark, A.T. Cancer (2005) [Pubmed]
  4. Characterization of the mouse Dazap1 gene encoding an RNA-binding protein that interacts with infertility factors DAZ and DAZL. Dai, T., Vera, Y., Salido, E.C., Yen, P.H. BMC Genomics (2001) [Pubmed]
  5. The DAZL1 gene is expressed in human male and female embryonic gonads before meiosis. Brekhman, V., Itskovitz-Eldor, J., Yodko, E., Deutsch, M., Seligman, J. Mol. Hum. Reprod. (2000) [Pubmed]
  6. The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Ruggiu, M., Speed, R., Taggart, M., McKay, S.J., Kilanowski, F., Saunders, P., Dorin, J., Cooke, H.J. Nature (1997) [Pubmed]
  7. Regulated Pumilio-2 binding controls RINGO/Spy mRNA translation and CPEB activation. Padmanabhan, K., Richter, J.D. Genes Dev. (2006) [Pubmed]
  8. Dazl can bind to dynein motor complex and may play a role in transport of specific mRNAs. Lee, K.H., Lee, S., Kim, B., Chang, S., Kim, S.W., Paick, J.S., Rhee, K. EMBO J. (2006) [Pubmed]
  9. The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. Collier, B., Gorgoni, B., Loveridge, C., Cooke, H.J., Gray, N.K. EMBO J. (2005) [Pubmed]
  10. Heritable and stable gene knockdown in rats. Dann, C.T., Alvarado, A.L., Hammer, R.E., Garbers, D.L. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  11. Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure. Teng, Y.N., Lin, Y.M., Lin, Y.H., Tsao, S.Y., Hsu, C.C., Lin, S.J., Tsai, W.C., Kuo, P.L. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  12. Identification and characterization of RNA sequences to which human PUMILIO-2 (PUM2) and deleted in Azoospermia-like (DAZL) bind. Fox, M., Urano, J., Reijo Pera, R.A. Genomics (2005) [Pubmed]
  13. A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Shan, Z., Hirschmann, P., Seebacher, T., Edelmann, A., Jauch, A., Morell, J., Urbitsch, P., Vogt, P.H. Hum. Mol. Genet. (1996) [Pubmed]
  14. DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. Reijo, R.A., Dorfman, D.M., Slee, R., Renshaw, A.A., Loughlin, K.R., Cooke, H., Page, D.C. Biol. Reprod. (2000) [Pubmed]
  15. Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men. Lin, Y.M., Chen, C.W., Sun, H.S., Tsai, S.J., Hsu, C.C., Teng, Y.N., Lin, J.S., Kuo, P.L. Mol. Hum. Reprod. (2001) [Pubmed]
  16. DAZL expression in human oocytes, preimplantation embryos and embryonic stem cells. Cauffman, G., Van de Velde, H., Liebaers, I., Van Steirteghem, A. Mol. Hum. Reprod. (2005) [Pubmed]
  17. Expression of DAZL protein in the human corpus luteum. Pan, H.A., Tsai, S.J., Chen, C.W., Lee, Y.C., Lin, Y.M., Kuo, P.L. Mol. Hum. Reprod. (2002) [Pubmed]
  18. Human 'testicular dysgenesis syndrome': a possible model using in-utero exposure of the rat to dibutyl phthalate. Fisher, J.S., Macpherson, S., Marchetti, N., Sharpe, R.M. Hum. Reprod. (2003) [Pubmed]
  19. Proliferation and differentiation of spermatogonial stem cells. de Rooij, D.G. Reproduction (2001) [Pubmed]
  20. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. Moore, F.L., Jaruzelska, J., Fox, M.S., Urano, J., Firpo, M.T., Turek, P.J., Dorfman, D.M., Pera, R.A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  21. Evolutionary comparison of the reproductive genes, DAZL and BOULE, in primates with and without DAZ. Tung, J.Y., Luetjens, C.M., Wistuba, J., Xu, E.Y., Reijo Pera, R.A., Gromoll, J. Dev. Genes Evol. (2006) [Pubmed]
  22. Expression patterns of the DAZ-associated protein DAZAP1 in rat and human ovaries. Pan, H.A., Lin, Y.S., Lee, K.H., Huang, J.R., Lin, Y.H., Kuo, P.L. Fertil. Steril. (2005) [Pubmed]
  23. DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences. Becherini, L., Guarducci, E., Degl'Innocenti, S., Rotondi, M., Forti, G., Krausz, C. Int. J. Androl. (2004) [Pubmed]
  24. Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure. Kuo, P.L., Wang, S.T., Lin, Y.M., Lin, Y.H., Teng, Y.N., Hsu, C.C. Fertil. Steril. (2004) [Pubmed]
  25. Presence of DAZL transcript and protein in mature human spermatozoa. Lin, Y.M., Chen, C.W., Sun, H.S., Tsai, S.J., Lin, J.S., Kuo, P.L. Fertil. Steril. (2002) [Pubmed]
  26. The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Yen, P.H., Chai, N.N., Salido, E.C. Hum. Mol. Genet. (1996) [Pubmed]
  27. Association of DAZL haplotypes with spermatogenic failure in infertile men. Teng, Y.N., Lin, Y.M., Sun, H.F., Hsu, P.Y., Chung, C.L., Kuo, P.L. Fertil. Steril. (2006) [Pubmed]
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