<scp>BSE</scp>‐associated polymorphisms in the prion protein gene: an investigation

Vernerová, Kateřina; Tothová, Lucie; Mikova, A.; Vodrazka, Pavel; Šimek, Bronislav; Hanusová, L.; Čítek, J.

doi:10.1111/jbg.12090

Cited by 11 publications

(14 citation statements)

References 28 publications

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“…In cattle, insertion/deletion polymorphisms in the regulatory region of the PRNP gene may influence the expression level of PrP C , leading to different incubation periods and an increase in BSE susceptibility 25,26 . According to recent studies, 23-bp insertion/deletion polymorphisms in the promoter region and 12-bp insertion/deletion polymorphisms in the promoter region of intron 1 of the PRNP gene are associated with BSE susceptibility 4,12,27 .…”

Section: Introductionmentioning

confidence: 99%

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats

Kim

Won

et al. 2019

Sci Rep

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Small ruminants, including sheep and goats are natural hosts of scrapie, and the progression of scrapie pathogenesis is strongly influenced by polymorphisms in the prion protein gene (PRNP). Although Korean native goats have been consumed as meat and health food, the evaluation of the susceptibility to scrapie in these goats has not been performed thus far. Therefore, we investigated the genotype and allele frequencies of PRNP polymorphisms in 211 Korean native goats and compared them with those in scrapie-affected animals from previous studies. We found a total of 12 single nucleotide polymorphisms (SNPs) including 10 nonsynonymous and 2 synonymous SNPs in Korean native goats. Significant differences in allele frequencies of PRNP codons 143 and 146 were found between scrapie-affected goats and Korean native goats (p < 0.01). By contrast, in PRNP codons 168, 211 and 222, there were no significant differences in the genotype and allele frequencies between scrapie-affected animals and Korean native goats. To evaluate structural changes caused by nonsynonymous SNPs, PolyPhen-2, PROVEAN and AMYCO analyses were performed. PolyPhen-2 predicted “possibly damaging” for W102G and R154H, “probably damaging” for G127S. AMYCO predicted relatively low for amyloid propensity of prion protein in Korean native black goats. This is the first study to evaluate the scrapie sensitivity and the first in silico evaluation of nonsynonymous SNPs in Korean native black goats.

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Section: Introductionmentioning

confidence: 99%

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats

Kim

Won

et al. 2019

Sci Rep

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“…However, the high degree of conservation of the PRPN gene and its ubiquitous expression among mammals suggest several biological roles, such as regulation of the circadian rhythm, central nervous system development, neuronal survival, and maintenance of cellular Ca +2 homeostasis [ 48 ]. In cattle, several studies recently revealed a large allelic variability at the PRPN and PRND loci [ 49 – 51 ] and also associations with susceptibility to BSE [ 52 – 54 ]. A recent investigation on the possible association between polymorphisms of the PRPN gene and milk production traits in cattle led to statistically significant results for milk fat content [ 55 ].…”

Section: Discussionmentioning

confidence: 99%

Use of canonical discriminant analysis to study signatures of selection in cattle

et al. 2016

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BackgroundCattle include a large number of breeds that are characterized by marked phenotypic differences and thus constitute a valuable model to study genome evolution in response to processes such as selection and domestication. Detection of “signatures of selection” is a useful approach to study the evolutionary pressures experienced throughout history. In the present study, signatures of selection were investigated in five cattle breeds farmed in Italy using a multivariate approach.MethodsA total of 4094 bulls from five breeds with different production aptitudes (two dairy breeds: Italian Holstein and Italian Brown Swiss; two beef breeds: Piemontese and Marchigiana; and one dual purpose breed: Italian Simmental) were genotyped using the Illumina BovineSNP50 v.1 beadchip. Canonical discriminant analysis was carried out on the matrix of single nucleotide polymorphisms (SNP) genotyping data, separately for each chromosome. Scores for each canonical variable were calculated and then plotted in the canonical space to quantify the distance between breeds. SNPs for which the correlation with the canonical variable was in the 99th percentile for a specific chromosome were considered to be significantly associated with that variable. Results were compared with those obtained using an FST-based approach.ResultsBased on the results of the canonical discriminant analysis, a large number of signatures of selection were detected, among which several had strong signals in genomic regions that harbour genes known to have an impact on production and morphological bovine traits, including MSTN, LCT, GHR, SCD, NCAPG, KIT, and ASIP. Moreover, new putative candidate genes were identified, such as GCK, B3GALNT1, MGAT1, GALNTL1, PRNP, and PRND. Similar results were obtained with the FST-based approach.ConclusionsThe use of canonical discriminant analysis on 50 K SNP genotypes allowed the extraction of new variables that maximize the separation between breeds. This approach is quite straightforward, it can compare more than two groups simultaneously, and relative distances between breeds can be visualized. The genes that were highlighted in the canonical discriminant analysis were in concordance with those obtained using the FST index.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-016-0236-7) contains supplementary material, which is available to authorized users.

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“…In addition, a 12-bp indel polymorphism within intron 1 of PRNP has been related to classical BSE (Haase et al, 2007;Gurgul et al, 2012a). However, several studies have failed to find a correlation between 12-bp indel polymorphisms and classical BSE (Hresko et al, 2009;Vernerova et al, 2014). Furthermore, SNP 4136 and 13861 in the noncoding region of PRNP have been shown to confer susceptibility to classical BSE (Murdoch et al, 2010;Jeong et al, 2013).…”

Section: Abstract: Bovine Prion Protein Gene Codon 211 Mutationmentioning

confidence: 99%

Lack of germline mutation at codon 211 of the prion protein gene (PRNP) in Korean native cattle — Short communication

Kim

Jeong

2017

Acta Veterinaria Hungarica

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Bovine prion diseases are composed of two types of bovine spongiform encephalopathy (BSE), classical BSE and atypical BSE. Recent studies have identified one case of atypical BSE with an E211K mutation. E211K is homologous to the human E200K mutation, which is related to familial Creutzfeldt-Jakob disease (CJD), one of the familial forms of human prion diseases. To date, familial forms of prion diseases have not been reported in non-human animals. Because the familial forms of human prion diseases account for more than 10% of all human prion disease cases, the detection of the E211K mutation in healthy cattle is very important for verifying the role of this mutation as a familial form of BSE. To detect putative mutations related to familial BSE, specifically E211K in Korean native cattle (Hanwoo) and Korean dairy cattle (Holstein), we performed direct sequencing targeting codon 211 and the adjacent regions of the bovine prion protein (PRNP) gene in 384 Hanwoo and 152 Holstein cattle. We did not find the E211K mutation in any of the Korean cattle. Although we did not find the E211K mutation in Korean native cattle, E211K is a postulated mutation; therefore, further screening in other countries and larger samples is highly desirable.

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BSE‐associated polymorphisms in the prion protein gene: an investigation

Cited by 11 publications

References 28 publications

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats

Use of canonical discriminant analysis to study signatures of selection in cattle

Lack of germline mutation at codon 211 of the prion protein gene (PRNP) in Korean native cattle — Short communication

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