Gene Symbol: DPY19L2
Description: dpy-19 like 2
Alias: SPATA34, SPGF9, protein dpy-19 homolog 2, spermatogenesis associated 34
Species: human
Products:     DPY19L2

Top Publications

  1. Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011;88:344-50 pubmed publisher
    ..of five analyzed infertile brothers carried a homozygous deletion of 200 kb on chromosome 12 encompassing only DPY19L2. Very similar deletions were found in three additional unrelated patients, suggesting that DPY19L2 deletion is a ..
  2. Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011;88:351-61 pubmed publisher
    ..This strategy allowed us to identify in most patients (15/20) a 200 kb homozygous deletion encompassing only DPY19L2, which is highly expressed in the testis...
  3. Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, et al. MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. Hum Reprod. 2012;27:2549-58 pubmed publisher
    Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the ..
  4. Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet. 2012;21:3695-702 pubmed publisher
    To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia...
  5. Carson A, Cheung J, Scherer S. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. BMC Genomics. 2006;7:45 pubmed
    ..One of these genes, DPY19L2, is found on Chromosome 12 and is not syntenic with its mouse orthologue...
  6. Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska Karanfilska D. A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia. Balkan J Med Genet. 2013;16:73-6 pubmed publisher
    ..Currently, three genes are known to be associated with total globozoospermia in humans, SPATA16 , PICK1 and DPY19L2 genes. Mutations in SPATA16 and PICK1 are rare causes of globozoospermia, found in only one patient each...
  7. Abdelhedi F, Chalas C, Petit J, Abid N, Mokadem E, Hizem S, et al. Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients. J Assist Reprod Genet. 2019;36:69-77 pubmed publisher
    To explore the three-dimensional (3D) organization of sperm genome in DPY19L2-deficient globozoospermic patients speculating a link between DPY19L2 and genome organization of sperm nucleus...
  8. Escoffier J, Yassine S, Lee H, Martinez G, Delaroche J, Coutton C, et al. Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation. Mol Hum Reprod. 2015;21:157-68 pubmed publisher
    We recently identified the DPY19L2 gene as the main genetic cause of human globozoospermia (70%) and described that Dpy19l2 knockout (KO) mice faithfully reproduce the human phenotype of globozoospermia making it an excellent model to ..
  9. Yassine S, Escoffier J, Abi Nahed R, Nahed R, Pierre V, Karaouzene T, et al. Dynamics of Sun5 localization during spermatogenesis in wild type and Dpy19l2 knock-out mice indicates that Sun5 is not involved in acrosome attachment to the nuclear envelope. PLoS ONE. 2015;10:e0118698 pubmed publisher
    ..We recently showed that a defect in the DPY19L2 gene is present in more than 70% of globozoospermic men and demonstrated that Dpy19l2, located in the inner ..

More Information


  1. Ounis L, Zoghmar A, Coutton C, Rouabah L, Hachemi M, Martinez D, et al. Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men. Asian J Androl. 2015;17:68-73 pubmed publisher
    ..Analyses of aurora kinase C (AURKC) and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia, respectively, two rare forms of ..
  2. Coutton C, Escoffier J, Martinez G, Arnoult C, Ray P. Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update. 2015;21:455-85 pubmed publisher
    ..Other genes defects have later been identified in spermatogenesis associated 16 (SPATA16) and dpy-19-like 2 (DPY19L2) in patients with globozoospermia and more recently in dynein, axonemal, heavy chain 1 (DNAH1) in a heterogeneous ..
  3. Yassine S, Escoffier J, Martinez G, Coutton C, Karaouzène T, Zouari R, et al. Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development. Mol Hum Reprod. 2015;21:169-85 pubmed publisher
    We recently identified the DPY19L2 gene as the main genetic cause of human globozoospermia...
  4. de Braekeleer M, Nguyen M, Morel F, Perrin A. Genetic aspects of monomorphic teratozoospermia: a review. J Assist Reprod Genet. 2015;32:615-23 pubmed publisher
    ..Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia...
  5. Gao K, Wang Z, Liu X, Dong Z, Shan W. [Genetic genes associated with oligospermia, asthenospermia and teratospermia: Advances in studies]. Zhonghua Nan Ke Xue. 2017;23:367-371 pubmed
    ..some, such as CATSPER1, CRISP2, SEPT4, TCTE3, TEKT4, and DNAH1, with asthenospermia; and still others, such as DPY19L2 and AURKC, with teratospermia...
  6. Tavalaee M, Nomikos M, Lai F, Nasr Esfahani M. Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion. Reprod Biomed Online. 2018;36:348-355 pubmed publisher
    ..Deletion of the DPY19L2 gene is reported as a main genetic cause in over 70% of infertile men with globozoospermia...
  7. Elinati E, Fossard C, Okutman O, Ghédir H, Ibala Romdhane S, Ray P, et al. A new mutation identified in SPATA16 in two globozoospermic patients. J Assist Reprod Genet. 2016;33:815-20 pubmed publisher
    ..Nineteen globozoospermic patients (previously screened for DPY19L2 mutations with no causative mutation) were recruited in this study and screened for mutations in genes implicated ..
  8. Liu X, Han R, Ma J, Wu J, Song X, Zhang Z, et al. [Mutation analysis and treatment of a case with globozoospermia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:764-766 pubmed publisher
    ..Potential mutation of the DPY19L2 gene was detected by PCR amplification and Sanger sequencing...
  9. Watanabe K, Bizen N, Sato N, Takebayashi H. Endoplasmic Reticulum-Localized Transmembrane Protein Dpy19L1 Is Required for Neurite Outgrowth. PLoS ONE. 2016;11:e0167985 pubmed publisher
    ..A Dpy19L family member, Dpy19L2, which is a causative gene for human Globozoospermia, is suggested to act as an anchor of the acrosome to the ..
  10. Paci M, Elkhatib R, Longepied G, Hennebicq S, Bessonat J, Courbiere B, et al. Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients. Reprod Biomed Online. 2017;35:562-570 pubmed publisher
    ..of this study was to characterize the nuclear lamina (NL) and lamin chromatin-partners in spermatozoa from four DPY19L2-deleted globozoospermic patients...
  11. Ray P, Toure A, Metzler Guillemain C, Mitchell M, Arnoult C, Coutton C. Genetic abnormalities leading to qualitative defects of sperm morphology or function. Clin Genet. 2017;91:217-232 pubmed publisher
    ..abnormality have been analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2. The study of patients with other specific sperm anomalies such as severe alteration of sperm motility, in ..
  12. Ghédir H, Ibala Romdhane S, Okutman O, Viot G, Saad A, Viville S. Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. Mol Hum Reprod. 2016;22:35-45 pubmed publisher
    The purpose of this study was to analyze DPY19L2 sequence variants to investigate the mechanism leading to the entire DPY19L2 deletion in a large cohort of infertile globozoospermic patients...
  13. Zhu F, Gong F, Lin G, Lu G. DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. Mol Hum Reprod. 2013;19:395-404 pubmed publisher
    ..Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome ..
  14. Fujihara Y, Oji A, Larasati T, Kojima Kita K, Ikawa M. Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. Int J Mol Sci. 2017;18: pubmed publisher
    ..causative mutations in three genes: a protein interacting with C kinase 1 (PICK1), dpy 19-like 2 (DPY19L2), and spermatogenesis associated 16 (SPATA16)...
  15. Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, et al. Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. PLoS Genet. 2013;9:e1003363 pubmed publisher
    ..with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2. We showed that this deletion occurred by Non-Allelic Homologous Recombination (NAHR) between two homologous 28-..