A SINE Insertion in ATP1B2in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)
Abstract Spongy degeneration with cerebellar ataxia (SDCA) is a genetically heterogeneous neurodegenerative disorder with autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. Using a combined linkage and homozygosity mapping approach we identified an ∼10.6 Mb critical interval on chromosome 5 in a Malinois family with four puppies affected by cerebellar dysfunction. Visual inspection of the 10.6 Mb interval in whole-genome sequencing data from one affected puppy revealed a 227 bp SINE insertion into the ATP1B2 gene encoding the β2 subunit o... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Reihe/Periodikum: | G3 Genes|Genomes|Genetics ; volume 7, issue 8, page 2729-2737 ; ISSN 2160-1836 |
Verlag/Hrsg.: |
Oxford University Press (OUP)
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Schlagwörter: | Genetics (clinical) / Genetics / Molecular Biology |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26908027 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1534/g3.117.043018 |