Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

Show simple item record

dc.contributor.author Kaukonen, Maria
dc.contributor.author Woods, Sean
dc.contributor.author Ahonen, Saija
dc.contributor.author Lemberg, Seppo
dc.contributor.author Hellman, Maarit
dc.contributor.author Hytönen, Marjo K.
dc.contributor.author Permi, Perttu
dc.contributor.author Glaser, Tom
dc.contributor.author Lohi, Hannes
dc.date.accessioned 2018-06-25T06:46:01Z
dc.date.available 2018-06-25T06:46:01Z
dc.date.issued 2018-05-29
dc.identifier.citation Kaukonen , 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 ' , Cell Reports , vol. 23 , no. 9 , pp. 2643-2652 . https://doi.org/10.1016/j.celrep.2018.04.118
dc.identifier.other PURE: 108181382
dc.identifier.other PURE UUID: a2b60bd0-e094-458c-b306-42f50ea9c14d
dc.identifier.other WOS: 000433427000011
dc.identifier.other Scopus: 85047494445
dc.identifier.other ORCID: /0000-0003-3313-784X/work/51805240
dc.identifier.other ORCID: /0000-0002-2146-4694/work/65309045
dc.identifier.other ORCID: /0000-0003-1976-5874/work/80222226
dc.identifier.uri http://hdl.handle.net/10138/236616
dc.description.abstract Maternally skewed transmission of traits has been associated with genomic imprinting and oocytederived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12deI) 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. en
dc.format.extent 10
dc.language.iso eng
dc.relation.ispartof Cell Reports
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject RETINOL-BINDING-PROTEIN
dc.subject VITAMIN-A-DEFICIENCY
dc.subject NATIVE DISULFIDE BONDS
dc.subject ENDOPLASMIC-RETICULUM
dc.subject BIOCHEMICAL BASIS
dc.subject CRYSTAL-STRUCTURE
dc.subject ANOPHTHALMIA
dc.subject MUTATIONS
dc.subject MALFORMATIONS
dc.subject METABOLISM
dc.subject 3111 Biomedicine
dc.subject 1182 Biochemistry, cell and molecular biology
dc.subject 413 Veterinary science
dc.title Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease en
dc.type Article
dc.contributor.organization Hannes Tapani Lohi / Principal Investigator
dc.contributor.organization Research Programs Unit
dc.contributor.organization Veterinary Biosciences
dc.contributor.organization Research Programme for Molecular Neurology
dc.contributor.organization University of Helsinki
dc.contributor.organization Veterinary Genetics
dc.contributor.organization Medicum
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1016/j.celrep.2018.04.118
dc.relation.issn 2211-1247
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

Files in this item

Total number of downloads: Loading...

Files Size Format View
1_s2.0_S2211124718307186_main.pdf 2.665Mb PDF View/Open

This item appears in the following Collection(s)

Show simple item record