In‐depth examination of PrP Sc in Holstein cattle carrying the E211K somatic mutation of the bovine prion protein gene ( PRNP )

Author(s):  
Yong‐Chan Kim ◽  
Kyung‐Je Park ◽  
Ji‐Yong Hwang ◽  
Hoo‐Chang Park ◽  
Hae‐Eun Kang ◽  
...  
2020 ◽  
Vol 21 (12) ◽  
pp. 4246 ◽  
Author(s):  
Sae-Young Won ◽  
Yong-Chan Kim ◽  
Byung-Hoon Jeong

Bovine spongiform encephalopathy (BSE) is a prion disease characterized by spongiform degeneration and astrocytosis in the brain. Unlike classical BSE, which is caused by prion-disease-contaminated meat and bone meal, the cause of atypical BSE has not been determined. Since previous studies have reported that the somatic mutation in the human prion protein gene (PRNP) has been linked to human prion disease, the somatic mutation of the PRNP gene was presumed to be one cause of prion disease. However, to the best of our knowledge, the somatic mutation of this gene in cattle has not been investigated to date. We investigated somatic mutations in a total of 58 samples, including peripheral blood; brain tissue including the medulla oblongata, cerebellum, cortex, and thalamus; and skin tissue in 20 individuals from each breed using pyrosequencing. In addition, we estimated the deleterious effect of the K211 somatic mutation on bovine prion protein by in silico evaluation tools, including PolyPhen-2 and PANTHER. We 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.


Genome ◽  
2006 ◽  
Vol 49 (12) ◽  
pp. 1539-1544 ◽  
Author(s):  
Byung-Hoon Jeong ◽  
Yun-Jung Lee ◽  
Nam-Ho Kim ◽  
R.I. Carp ◽  
Yong-Sun Kim

Recently, an association between bovine spongiform encephalopathy (BSE) and insertion/deletion (indel) polymorphisms in the bovine prion protein gene (PRNP) promoter region has been reported in German cattle. These PRNP polymorphisms cause changes in PRNP expression and are thought to play an important role in BSE susceptibility. BSE has been reported in British and Japanese Holstein cattle but has not been diagnosed in Hanwoo cattle (Bos taurus coreanae) up to now. These results prompted us to investigate the genotype distributions of these PRNP promoter polymorphisms in 107 Hanwoo cattle and 52 Holstein cattle and compare the results with those of previous studies. A significant difference (P = 0.0249) in allele frequency of the 23 bp indel polymorphism was observed between Hanwoo and the BSE-affected German cattle previously investigated. There were no significant differences in the genotype (P = 0.2095) or allele (P = 0.8875) frequencies of the 12 bp indel polymorphism between Hanwoo and BSE-affected German cattle. Interestingly, the genotype and allele frequencies of the 23 bp indel polymorphism in Korean Holsteins were very similar to those previously reported for BSE-affected German cattle and healthy US cattle sires.


2005 ◽  
Vol 80 (4) ◽  
pp. 303-308 ◽  
Author(s):  
Byung-Hoon Jeong ◽  
Hyun-Joo Sohn ◽  
Jong-O Lee ◽  
Nam-Ho Kim ◽  
Jae-Il Kim ◽  
...  

2017 ◽  
Vol 52 (6) ◽  
pp. 1157-1165
Author(s):  
E.A. Gladyr ◽  
◽  
T.E. Deniskova ◽  
V.A. Bagirov ◽  
O.V. Kostyunina ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 193
Author(s):  
Min-Ju Jeong ◽  
Yong-Chan Kim ◽  
Byung-Hoon Jeong

Pathogenic prion protein (PrPSc), converted from normal prion protein (PrPC), causes prion disease. Although prion disease has been reported in several mammalian species, chickens are known to show strong resistance to prion diseases. In addition to chickens, the domestic duck occupies a large proportion in the poultry industry and may be regarded as a potential resistant host against prion disease. However, the DNA sequence of the prion protein gene (PRNP) has not been reported in domestic ducks. Here, we performed amplicon sequencing targeting the duck PRNP gene with the genomic DNA of Pekin ducks. In addition, we aligned the PrP sequence of the Pekin duck with that of various species using ClustalW2 and carried out phylogenetic analysis using Molecular Evolutionary Genetics Analysis X (MEGA X). We also constructed the structural modeling of the tertiary and secondary structures in avian PrP using SWISS-MODEL. Last, we investigated the aggregation propensity on Pekin duck PrP using AMYCO. We first reported the DNA sequence of the PRNP gene in Pekin ducks and found that the PrP sequence of Pekin ducks is more similar to that of geese than to that of chickens and mallards (wild ducks). Interestingly, Pekin duck PrP showed a high proportion of β-sheets compared to that of chicken PrP, and a high aggregation propensity compared to that of avian PrPs. However, Pekin duck PrP with substitutions of chicken-specific amino acids showed reduced aggregation propensities. To the best of our knowledge, this is the first report on the genetic characteristics of the PRNP sequence in Pekin ducks.


2006 ◽  
Vol 151 (9) ◽  
pp. 1875-1880 ◽  
Author(s):  
P. L. Acutis ◽  
F. Martucci ◽  
M. Mazza ◽  
S. Peletto ◽  
B. Iulini ◽  
...  

The Lancet ◽  
1996 ◽  
Vol 348 (9019) ◽  
pp. 56 ◽  
Author(s):  
John Collinge ◽  
Jonathan Beck ◽  
Tracy Campbell ◽  
Kathy Estibeiro ◽  
Robert G Will

2013 ◽  
Vol 27 (1) ◽  
pp. 87-90 ◽  
Author(s):  
Maren Breithaupt ◽  
Carlos Romero ◽  
Kai Kallenberg ◽  
Christian Begue ◽  
Pascual Sanchez-Juan ◽  
...  

1993 ◽  
Vol 52 (3) ◽  
pp. 293
Author(s):  
R B Petersen ◽  
L Goldfarb ◽  
M Tabaton ◽  
P Brown ◽  
A LeBlanc ◽  
...  

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