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DPY19L2 gene

dpy-19 like 2
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Normal Function

The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein plays a role in the development of the acrosome, a cap-like structure in the head of sperm cells. The acrosome contains enzymes that break down the outer membrane of egg cells, allowing the sperm to fertilize an egg.

The developing acrosome is attached to the nucleus of the cell. The DPY19L2 protein, which is found within the membrane of the nucleus, helps attach the forming acrosome to the nuclear membrane. As the acrosome develops and the sperm cell matures, the acrosome moves to the tip of the head of the sperm, which helps the head elongate into an oval shape.

Health Conditions Related to Genetic Changes

Globozoospermia

At least 17 DPY19L2 gene mutations have been found in men with globozoospermia, a condition characterized by abnormal sperm cells that have a round head and no acrosome. Approximately 70 percent of men with this condition have mutations in DPY19L2. Most of these mutations delete large regions of the gene or the whole gene. Others change single protein building blocks (amino acids) in the DPY19L2 protein. These mutations lead to a loss of functional DPY19L2 protein. Without this protein, the forming acrosome is not attached to the nucleus and is removed from the cell. As a result, sperm cells have no acrosome and the head of the sperm does not elongate. The abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to an inability to father biological children (infertility) in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2 gene are involved in development of these characteristics.

More About This Health Condition

Other Names for This Gene

  • D19L2_HUMAN
  • dpy-19 like 2 (C. elegans)
  • dpy-19-like 2 (C. elegans)
  • FLJ32949
  • probable C-mannosyltransferase DPY19L2
  • protein dpy-19 homolog 2
  • SPATA34
  • spermatogenesis associated 34
  • SPGF9

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF. 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 Mar;9(3):e1003363. doi: 10.1371/journal.pgen.1003363. Epub 2013 Mar 21. Citation on PubMed or Free article on PubMed Central
  • Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, Vialard F, Satre V, Hennebicq S, Jouk PS, Arnoult C, Lunardi J, Ray PF. MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. Hum Reprod. 2012 Aug;27(8):2549-58. doi: 10.1093/humrep/des160. Epub 2012 May 24. Citation on PubMed
  • Escoffier J, Yassine S, Lee HC, Martinez G, Delaroche J, Coutton C, Karaouzène T, Zouari R, Metzler-Guillemain C, Pernet-Gallay K, Hennebicq S, Ray PF, Fissore R, Arnoult C. 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 Feb;21(2):157-68. doi: 10.1093/molehr/gau098. Epub 2014 Oct 29. Citation on PubMed or Free article on PubMed Central
  • Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sèle B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. doi: 10.1016/j.ajhg.2011.02.007. Citation on PubMed or Free article on PubMed Central
  • Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011 Mar 11;88(3):344-50. doi: 10.1016/j.ajhg.2011.01.018. Erratum in: Am J Hum Genet. 2011 Apr 8;88(4):517. Ray, Pierre [corrected to Ray, Pierre F]. Citation on PubMed or Free article on PubMed Central
  • Perrin A, Coat C, Nguyen MH, Talagas M, Morel F, Amice J, De Braekeleer M. Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia. 2013 Feb;45(1):1-9. doi: 10.1111/j.1439-0272.2012.01308.x. Epub 2012 May 10. Review. Citation on PubMed
  • Pierre V, Martinez G, Coutton C, Delaroche J, Yassine S, Novella C, Pernet-Gallay K, Hennebicq S, Ray PF, Arnoult C. Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus. Development. 2012 Aug;139(16):2955-65. doi: 10.1242/dev.077982. Epub 2012 Jul 4. Citation on PubMed
  • Yassine S, Escoffier J, Martinez G, Coutton C, Karaouzène T, Zouari R, Ravanat JL, Metzler-Guillemain C, Lee HC, Fissore R, Hennebicq S, Ray PF, Arnoult C. Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development. Mol Hum Reprod. 2015 Feb;21(2):169-85. doi: 10.1093/molehr/gau099. Epub 2014 Oct 29. Citation on PubMed or Free article on PubMed Central
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