Spongiform encephalopathy, susceptibility/resistance to

Phene ID

1643

Name

Spongiform encephalopathy, susceptibility/resistance to

Phene Name

Bovine spongiform encephalopathy; Mad Cow Disease

OMIA ID

944

Species ID

9913

Characterised

Yes

Characterised Year

2008

Richt and Hall (2008) "identified a novel mutation in the bovine prion protein gene (Prnp), called E211K, of a confirmed BSE positive cow from Alabama, United States of America. This mutation is identical to the E200K pathogenic mutation found in humans with a genetic form of CJD. This finding represents the first report of a confirmed case of BSE with a potential pathogenic mutation within the bovine Prnp gene. We hypothesize that the bovine Prnp E211K mutation most likely has caused BSE in “the approximately 10-year-old cow” carrying the E221K mutation." Won et al. (2020) "found a high rate of K211 somatic mutations of the bovine PRNP gene in the medulla oblongata of three Holsteins (10% ± 4.4%, 28% ± 2%, and 19.55% ± 3.1%). In addition, in silico programs showed that the K211 somatic mutation was damaging. To the best of our knowledge, this study is the first to investigate K211 somatic mutations of the bovine PRNP gene that are associated with potential BSE progression."
Ren et al. (2024) “simultaneously edited three genes in bovine fibroblasts. A knockout of MSTN and PRNP was created and the amino acid Q-G in CD18 was precisely substituted [in the fibroblasts].”