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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

2019-08Journal article Open access
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dc.contributor.authorMoye, Abigail R.
dc.contributor.authorBedoni, Nicola
dc.contributor.authorCunningham, Jessica G.
dc.contributor.authorSanzhaeva, Urikhan
dc.contributor.authorTucker, Eric S.
dc.contributor.authorMathers, Peter
dc.contributor.authorPeter, Virginie G.
dc.contributor.authorQuinodoz, Mathieu
dc.contributor.authorParis, Liliana P.
dc.contributor.authorCoutinho-Santos, Luísa
dc.contributor.authorCamacho, Pedro
dc.contributor.authorPurcell, Madeleine G.
dc.contributor.authorWinkelmann, Abbie C.
dc.contributor.authorFoster, James A.
dc.contributor.authorPugacheva, Elena N.
dc.contributor.authorRivolta, Carlo
dc.contributor.authorRamamurthy, Visvanathan
dc.date.accessioned2019-09-30T16:08:25Z
dc.date.available2019-09-30T16:08:25Z
dc.date.issued2019-08
dc.description.abstractCilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies. Many strides have been made towards deciphering the molecular causes for these diseases, which have in turn expanded the understanding of cilia and their functional roles. One recently-identified ciliary gene is ARL2BP, encoding the ADP-Ribosylation Factor Like 2 Binding Protein. In this study, we have identified multiple ciliopathy phenotypes associated with mutations in ARL2BP in human patients and in a mouse knockout model. Our research demonstrates that spermiogenesis is impaired, resulting in abnormally shaped heads, shortened and mis-assembled sperm tails, as well as in loss of axonemal doublets. Additional phenotypes in the mouse included enlarged ventricles of the brain and situs inversus. Mouse embryonic fibroblasts derived from knockout animals revealed delayed depolymerization of primary cilia. Our results suggest that ARL2BP is required for the structural maintenance of cilia as well as of the sperm flagellum, and that its deficiency leads to syndromic ciliopathy.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMoye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Camacho P, et al. Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genet. 2019;15(8):e1008315.pt_PT
dc.identifier.doi10.1371/journal.pgen.1008315pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/10524
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherPLOSpt_PT
dc.relation.publisherversionhttps://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008315pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectGeneticspt_PT
dc.subjectARL2BPpt_PT
dc.subjectInfertilitypt_PT
dc.titleMutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and micept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue8pt_PT
oaire.citation.startPagee1008315pt_PT
oaire.citation.titlePLoS Geneticspt_PT
oaire.citation.volume15pt_PT
person.familyNameCamacho
person.givenNamePedro
person.identifier.ciencia-id271F-B4E1-014E
person.identifier.orcid0000-0002-2986-5652
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationc41e9c52-157e-4375-8005-b609cfc374e7
relation.isAuthorOfPublication.latestForDiscoveryc41e9c52-157e-4375-8005-b609cfc374e7

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