Title: Proceedings 31st Symposium ESVN-ECVN Document date: 2019_12_21
ID: 4526ne4l_71
Snippet: A 20â€fold average coverage whole genome sequence (WGS) of an affected NSDTR generated using Illumina NextGen sequencing technology was aligned to CanFam 3.1. Variant alleles were filtered for those that were: (1) predicted to alter the primary structure of the gene product, (2) homozygous in the affected NSDTR dog, and (3) absent from the WGSs of 105 dogs with other disease phenotypes. Fifteen variant alleles met these criteria, including a C>T.....
Document: A 20â€fold average coverage whole genome sequence (WGS) of an affected NSDTR generated using Illumina NextGen sequencing technology was aligned to CanFam 3.1. Variant alleles were filtered for those that were: (1) predicted to alter the primary structure of the gene product, (2) homozygous in the affected NSDTR dog, and (3) absent from the WGSs of 105 dogs with other disease phenotypes. Fifteen variant alleles met these criteria, including a C>T transition at 29:4451005 which was homozygous in all 10 NSDTR with a confirmed diagnosis that were available to us at the time. This transition predicted a p.Gly1503Arg change in the encoded RB1CC1 protein (FIP200). FIP200 is involved in a number of cellular pathways including the induction of autophagy. We were unable to demonstrate major changes in autophagy markers in cultured fibroblasts from affected NSDTR. Thus, the p.Gly1503Arg amino acid substitution may affect one of the other pathways in which FIP200 participates such as apoptosis.
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