Jacinto, Jacinto, Joana G. P.; Wohlsein, Peter; Häfliger, Irene M.; Karl, Michael; Pohlers, Michael; Plobner, Lutz; Grünberg, Walter; Drögemüller, Cord (2023). A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle. Journal of veterinary internal medicine, 37(6), pp. 2631-2637. Wiley 10.1111/jvim.16865
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Hepatic fibrinogen storage disease (HFSD) was diagnosed in a 5-month-old Wagyu calf with a history of recurrent respiratory disease. It was characterized by lethargy, dehydration, acidemia, and increased liver enzyme activities. Histologically, disseminated hepatocytes were swollen and showed a single, sharply demarcated, faintly eosinophilic cytoplasmic inclusion with a ground-glass appearance, with the nucleus in an eccentric position. Cytoplasmic inclusions did not stain with the periodic acid-Schiff (PAS) reaction. Using a rabbit polyclonal antibody against fibrinogen, the cytoplasmic vacuoles in the hepatocytes stained intensely. Electron microscopy disclosed hepatocytes with membrane-bound cytoplasmic inclusions filled with fine granular material interspersed with a few coarse-grained electron-dense granules. A trio whole-genome sequencing approach identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%. This is a report of a DGKG-related recessive inherited disorder in cattle and adds DGKG to the list of candidate genes for HFSD in other species.
Item Type: |
Journal Article (Further Contribution) |
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Division/Institute: |
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Clinic for Ruminants 05 Veterinary Medicine > Other Institutions > Office of the Dean 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
UniBE Contributor: |
Jacinto, Joana, Häfliger, Irene Monika, Drögemüller, Cord |
Subjects: |
600 Technology > 630 Agriculture 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health |
ISSN: |
0891-6640 |
Publisher: |
Wiley |
Language: |
English |
Submitter: |
Cord Drögemüller |
Date Deposited: |
11 Sep 2023 07:39 |
Last Modified: |
10 Apr 2024 13:15 |
Publisher DOI: |
10.1111/jvim.16865 |
PubMed ID: |
37681469 |
BORIS DOI: |
10.48350/186180 |
URI: |
https://boris.unibe.ch/id/eprint/186180 |
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