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

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Pysyväisosoite

http://hdl.handle.net/10138/236616

Lähdeviite

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

Julkaisun nimi: Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease
Tekijä: Kaukonen, Maria; Woods, Sean; Ahonen, Saija; Lemberg, Seppo; Hellman, Maarit; Hytönen, Marjo K.; Permi, Perttu; Glaser, Tom; Lohi, Hannes
Tekijän organisaatio: Hannes Tapani Lohi / Principal Investigator
Research Programs Unit
Veterinary Biosciences
Research Programme for Molecular Neurology
University of Helsinki
Veterinary Genetics
Medicum
Päiväys: 2018-05-29
Kieli: eng
Sivumäärä: 10
Kuuluu julkaisusarjaan: Cell Reports
ISSN: 2211-1247
DOI-tunniste: https://doi.org/10.1016/j.celrep.2018.04.118
URI: http://hdl.handle.net/10138/236616
Tiivistelmä: 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.
Avainsanat: RETINOL-BINDING-PROTEIN
VITAMIN-A-DEFICIENCY
NATIVE DISULFIDE BONDS
ENDOPLASMIC-RETICULUM
BIOCHEMICAL BASIS
CRYSTAL-STRUCTURE
ANOPHTHALMIA
MUTATIONS
MALFORMATIONS
METABOLISM
3111 Biomedicine
1182 Biochemistry, cell and molecular biology
413 Veterinary science
Vertaisarvioitu: Kyllä
Tekijänoikeustiedot: cc_by
Pääsyrajoitteet: openAccess
Rinnakkaistallennettu versio: publishedVersion


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