RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia. ...

Several genetically distinct forms of cerebellar ataxia exist in Belgian shepherd dogs. We investigated a litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the RALGAPA1 gene, XM_038544497... Mehr ...

Verfasser: Christen, Matthias
Zdora, Isabel
Leschnik, Michael
Jagannathan, Vidhya
Puff, Christina
Hünerfauth, Enrice
Volk, Holger A
Baumgärtner, Wolfgang
Koch, Tessa C
Schäfer, Wencke
Kleiter, Miriam
Leeb, Tosso
Dokumenttyp: Text
Erscheinungsdatum: 2023
Verlag/Hrsg.: MDPI
Molecular Diversity Preservation International
Schlagwörter: 590 Animals Zoology / 630 Agriculture
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-28883998
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://dx.doi.org/10.48350/185771

Several genetically distinct forms of cerebellar ataxia exist in Belgian shepherd dogs. We investigated a litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the RALGAPA1 gene, XM_038544497.1:c.6080-2893_6944+1003del. It is predicted to introduce a premature stop codon into the transcript, truncating ~23% of the wild-type open reading frame of the encoded Ral GTPase-activating protein catalytic subunit α 1, XP_038400425.1:(p.Val2027Glnfs*7). Genotypes at the deletion showed the expected co-segregation with the phenotype in the family. Genotyping additional ataxic Belgian shepherd dogs revealed three ...