Näytä suppeat kuvailutiedot

dc.contributor.authorKaukonen, Maria
dc.contributor.authorWoods, Sean
dc.contributor.authorAhonen, Saija
dc.contributor.authorLemberg, Seppo
dc.contributor.authorHellman, Maarit
dc.contributor.authorHytönen, Marjo K.
dc.contributor.authorPermi, Perttu
dc.contributor.authorGlaser, Tom
dc.contributor.authorLohi, Hannes
dc.date.accessioned2018-06-20T11:08:45Z
dc.date.available2018-06-20T11:08:45Z
dc.date.issued2018
dc.identifier.citationKaukonen, M., Woods, S., Ahonen, S., Lemberg, S., Hellman, M., Hytönen, M. K., Permi, P., Glaser, T., & Lohi, H. (2018). Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. <i>Cell Reports</i>, <i>23</i>(9), 2643-2652. <a href="https://doi.org/10.1016/j.celrep.2018.04.118" target="_blank">https://doi.org/10.1016/j.celrep.2018.04.118</a>
dc.identifier.otherCONVID_28073634
dc.identifier.otherTUTKAID_77749
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/58666
dc.description.abstractMaternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. The maternal penetrance effect arises from an impairment in the sequential transfer of retinol across the placenta, via RBP encoded by maternal and fetal genomes. Our results demonstrate a mode of recessive maternal inheritance, with a physiological basis, and they extend previous observations on dominant-negative RBP4 alleles in humans.fi
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherElsevier Inc.
dc.relation.ispartofseriesCell Reports
dc.rightsCC BY-NC-ND 4.0
dc.subject.othermicrophthalmia
dc.subject.otherRBP4
dc.subject.othercongenital eye defect
dc.subject.otherwhole genome sequencing
dc.subject.othergenome-wide association study
dc.subject.otherwestern blotting
dc.subject.othernuclear magnetic resonance
dc.subject.othercanine genetics
dc.subject.othermaternal inheritance
dc.titleMaternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-201805302923
dc.contributor.laitosBio- ja ympäristötieteiden laitosfi
dc.contributor.laitosKemian laitosfi
dc.contributor.laitosDepartment of Biological and Environmental Scienceen
dc.contributor.laitosDepartment of Chemistryen
dc.contributor.oppiaineNanoscience Centerfi
dc.contributor.oppiaineNanoscience Centeren
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.date.updated2018-05-30T12:15:22Z
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.description.reviewstatuspeerReviewed
dc.format.pagerange2643-2652
dc.relation.issn2211-1247
dc.relation.numberinseries9
dc.relation.volume23
dc.type.versionpublishedVersion
dc.rights.copyright© 2018 The Authors.
dc.rights.accesslevelopenAccessfi
dc.subject.ysoA-vitamiini
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p17998
dc.rights.urlhttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.relation.doi10.1016/j.celrep.2018.04.118
dc.type.okmA1


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