Dpy-19-like 2 (C. elegans) is a protein that in humans is encoded by the DPY19L2 gene .
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Function
The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9).
References
Further reading
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, P. S.; Sèle, B; Hennebicq, S; Satre, V; Viville, S; Arnoult, C; Lunardi, J; Ray, P. F. (2011). "A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation" . The American Journal of Human Genetics . 88 (3): 351–61. doi :10.1016/j.ajhg.2011.02.007 . PMC 3059422 . PMID 21397064 .
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, P. S.; Arnoult, C; Lunardi, J; Ray, P. F. (2012). "MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia". Human Reproduction . 27 (8): 2549–58. doi :10.1093/humrep/des160 . PMID 22627659 .
Elinati, E; Kuentz, P; Redin, C; Jaber, S; Vanden Meerschaut, F; Makarian, J; Koscinski, I; Nasr-Esfahani, M. H.; Demirol, A; Gurgan, T; Louanjli, N; Iqbal, N; Bisharah, M; Pigeon, F. C.; Gourabi, H; De Briel, D; Brugnon, F; Gitlin, S. A.; Grillo, J. M.; Ghaedi, K; Deemeh, M. R.; Tanhaei, S; Modarres, P; Heindryckx, B; Benkhalifa, M; Nikiforaki, D; Oehninger, S. C.; De Sutter, P; Muller, J; Viville, S (2012). "Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots". Human Molecular Genetics . 21 (16): 3695–702. doi :10.1093/hmg/dds200 . PMID 22653751 .
Carson, A. R.; Cheung, J; Scherer, S. W. (2006). "Duplication and relocation of the functional DPY19L2 gene within low copy repeats" . BMC Genomics . 7 : 45. doi :10.1186/1471-2164-7-45 . PMC 1475853 . PMID 16526957 .
Coutton, C; Abada, F; Karaouzene, T; Sanlaville, D; Satre, V; Lunardi, J; Jouk, P. S.; Arnoult, C; Thierry-Mieg, N; Ray, P. F. (2013). "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 Genetics . 9 (3): e1003363. doi :10.1371/journal.pgen.1003363 . PMC 3605140 . PMID 23555282 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .