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

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

Maternally 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 an...

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Bibliographic Details
Main Authors: Maria Kaukonen, Sean Woods, Saija Ahonen, Seppo Lemberg, Maarit Hellman, Marjo K. Hytönen, Perttu Permi, Tom Glaser, Hannes Lohi
Format: Article
Language:English
Published: Elsevier 2018-05-01
Series:Cell Reports
Subjects:
microphthalmia
RBP4
vitamin A
congenital eye defect
whole genome sequencing
genome-wide association study
western blotting
nuclear magnetic resonance
canine genetics
maternal inheritance
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124718307186

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