DPY19L2
{{Short description|Protein-coding gene in humans}}
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Dpy-19-like 2 (C. elegans) is a protein that in humans is encoded by the DPY19L2 gene.{{cite web | title = Entrez Gene: Dpy-19-like 2 (C. elegans) | url = https://www.ncbi.nlm.nih.gov/gene/283417 }}
Function
The C. elegans gene dpy-19 belongs to the dpy ("dumpy" phenotype){{Cite web |title=dumpy (phenotype) |author= |work=wormbase.org |date= |access-date=7 February 2023 |url= https://wormbase.org/species/all/phenotype/WBPhenotype:0000583#0--9}}
gene class and encodes DPY-19, transmembrane protein with C-linked mannosyltransferase activity.
"wormbase">{{Cite web |title=dpy-19 (gene)|author= |work=wormbase.org |date= |access-date=7 February 2023 |url= https://wormbase.org/species/c_elegans/gene/WBGene00001078#0-9fc41dge-9}}
In humans, 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
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Further reading
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- {{cite journal | vauthors = 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 | title = A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation | journal = American Journal of Human Genetics | volume = 88 | issue = 3 | pages = 351–61 | date = March 2011 | pmid = 21397064 | pmc = 3059422 | doi = 10.1016/j.ajhg.2011.02.007 }}
- {{cite journal | vauthors = 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 | title = MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia | journal = Human Reproduction | volume = 27 | issue = 8 | pages = 2549–58 | date = August 2012 | pmid = 22627659 | doi = 10.1093/humrep/des160 | doi-access = free }}
- {{cite journal | vauthors = Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S | title = Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots | journal = Human Molecular Genetics | volume = 21 | issue = 16 | pages = 3695–702 | date = August 2012 | pmid = 22653751 | doi = 10.1093/hmg/dds200 | doi-access = free }}
- {{cite journal | vauthors = Carson AR, Cheung J, Scherer SW | title = Duplication and relocation of the functional DPY19L2 gene within low copy repeats | journal = BMC Genomics | volume = 7 | pages = 45 | date = March 2006 | pmid = 16526957 | pmc = 1475853 | doi = 10.1186/1471-2164-7-45 | doi-access = free }}
- {{cite journal | vauthors = Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF | title = Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population | journal = PLOS Genetics | volume = 9 | issue = 3 | pages = e1003363 | date = March 2013 | pmid = 23555282 | pmc = 3605140 | doi = 10.1371/journal.pgen.1003363 | doi-access = free }}
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