DPY19L2: Difference between revisions
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'''Dpy-19-like 2 (C. elegans)''' is a [[protein]] that in humans is encoded by the DPY19L2 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Dpy-19-like 2 (C. elegans) | url = https://www.ncbi.nlm.nih.gov/gene/283417 }}</ref> | |||
== Function == | |||
The protein encoded by this gene belongs to the dpy-19 (developmental pluripotancy-associated) 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 [[male infertility|infertility]] disorder, spermatogenic failure type 9 (SPGF9). | |||
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 == | == References == | ||
{{reflist}} | {{reflist}} | ||
== Further reading == | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{ | * {{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 }} | |||
| | * {{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 }} | ||
* {{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 }} | |||
* {{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 }} | |||
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| doi = 10.1093/hmg/dds200 | |||
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*{{ | |||
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| title = Duplication and relocation of the functional DPY19L2 gene within low copy repeats | |||
| journal = BMC Genomics | |||
| volume = 7 | |||
| pages = 45 | |||
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| doi = 10.1186/1471-2164-7-45 | |||
}} | |||
*{{ | |||
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| 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 | |||
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| doi = 10.1371/journal.pgen.1003363 | |||
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{{refend}} | {{refend}} | ||
{{NLM content}} | {{NLM content}} | ||
Latest revision as of 05:40, 30 June 2018
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Dpy-19-like 2 (C. elegans) is a protein that in humans is encoded by the DPY19L2 gene.[1]
Function
The protein encoded by this gene belongs to the dpy-19 (developmental pluripotancy-associated) 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 PS, Sèle B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF (March 2011). "A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation". 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 PS, Arnoult C, Lunardi J, Ray PF (August 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 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 (August 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 AR, Cheung J, Scherer SW (March 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 PS, Arnoult C, Thierry-Mieg N, Ray PF (March 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.
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