A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)
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 of the Na+... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Reihe/Periodikum: | G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2729-2737 (2017) |
Verlag/Hrsg.: |
Oxford University Press
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Schlagwörter: | Canis familiaris / canine / Malinois / Na+/K+-ATPase / β2 subunit / adhesion molecule on glia / AMOG / astrocytes / brain / central nervous system / epilepsy / KCNJ10 / cerebellar dysfunction / Genetics / QH426-470 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28886283 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.1534/g3.117.043018 |