A large deletion in \(\it RPGR\) causes XLPRA in Weimaraner dogs

  • \(\textbf {Background:}\) Progressive retinal atrophy (PRA) belongs to a group of inherited retinal disorders associated with gradual vision impairment due to degeneration of retinal photoreceptors in various dog breeds. PRA is highly heterogeneous, with autosomal dominant, recessive or X-linked modes of inheritance. In this study we used exome sequencing to investigate the molecular genetic basis of a new type of PRA, which occurred spontaneously in a litter of German short-hair Weimaraner dogs. \(\textbf {Results:}\) Whole exome sequencing in two PRA-affected Weimaraner dogs identified a large deletion comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator \(\textit {(RPGR)}\) gene known to be involved in human retinitis pigmentosa and canine PRA. Screening of 16 individuals in the corresponding pedigree of short-hair Weimaraners by qPCR, verified the deletion in hemizygous or heterozygous state in one male and six female dogs, respectively. The mutation was absent in 88 additional unrelated Weimaraners. The deletion was not detectable in the parents of one older female which transmitted the mutation to her offspring, indicating that the \(\it RPGR\) deletion represents a \(\textit {de novo}\) mutation concerning only recent generations of the Weimaraner breed in Germany. \(\textbf {Conclusion:}\) Our results demonstrate the value of an existing DNA biobank combined with exome sequencing to identify the underlying genetic cause of a spontaneously occurring inherited disease. Identification of the genetic cause has allowed the development of a diagnostic test, which should help to eradicate the PRA causing mutation from the respective canine line. Thus, planning of future pairings is facilitated and manifestation of this type of PRA can be prevented.

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Metadaten
Author:Regina KropatschGND, Denis A. AkkadGND, Matthias FrankGND, Carsten RosenhagenGND, Janine AltmüllerGND, Peter NürnbergGND, Jörg T. EpplenORCiDGND, Gabriele DekomienGND
URN:urn:nbn:de:hbz:294-58147
DOI:https://doi.org/10.1186/s40575-016-0037-x
Parent Title (English):Canine genetics and epidemiology
Document Type:Article
Language:English
Date of Publication (online):2018/07/03
Date of first Publication:2016/07/08
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
Exome sequencing; Progressive retinal atrophy; RPGR (retinitis pigmentosa GTPase regulator) gene; Weimaraner
Volume:3
First Page:7-1
Last Page:7-9
Note:
Article Processing Charge funded by the Open Access Publication Fund of Ruhr-Universität Bochum.
Institutes/Facilities:Medizinische Fakultät, Abteilung für Humangenetik
Dewey Decimal Classification:Naturwissenschaften und Mathematik / Biowissenschaften, Biologie, Biochemie
open_access (DINI-Set):open_access
faculties:Medizinische Fakultät
Licence (English):License LogoCreative Commons - CC BY 4.0 - Attribution 4.0 International