Genetic profile of scrapie codons 146, 211 and 222 in the PRNP gene locus in three breeds of dairy goats

Vouraki, Sotiria; Gelasakis, Athanasios Ι.; Alexandri, Panoraia; Boukouvala, Evridiki; Ekateriniadou, Loukia; Banos, Georgios; Arsenos, G.

doi:10.1371/journal.pone.0198819

Cited by 13 publications

(15 citation statements)

References 45 publications

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“…Genotypic and allelic frequencies regarding codons 37, 110, 127, 137, 142, 146, 154, 168, 194, 211, 215, 222, and 240 were calculated within and across breed, based on counting the respective genotypes of individual animals. The Hardy–Weinberg equilibrium state was examined at each codon and breed using a chi-square test ( p ≤ 0.05):

where O is the observed number of each genotype; E is the expected number of each genotype assuming Hardy–Weinberg equilibrium; and Σ is the summation over all possible genotypes [ 48 , 49 ] (R software v4.0.3). This type of statistical analysis is very important in selection studies in order to evaluate the possible inbreeding, the possible transmission of unfavorable linked traits, and in order to assess the genetic variability conservation.…”

Section: Methodsmentioning

confidence: 99%

PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy

Torricelli

Sebastiani

Ciullo

et al. 2021

Animals

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In goats, as in sheep, genotypes of the prion protein gene (PRNP) can influence animals’ susceptibility to scrapie. Since the polymorphic codons in sheep are well known, a genetic selection plan has been implemented in Europe, in order to reduce the prevalence of susceptible genotypes to scrapie. In Italy, no breeding plan for scrapie resistance in goats has been adopted, yet. Likewise, according to the most recent modification of Regulation EU 999/2001 (Regulation EU 772/2020) of the European Commission (EU), based on all the available experimental and in field data, K222, D146 and S146 polymorphisms could be used as scrapie resistance alleles in genetic management both in scrapie outbreaks and in disease prevention. In order to collect data on the variability of PRNP, the present study aimed to analyze the sequence of the PRNP gene in eight Italian local goat populations/breeds reared in central and southern Italy (Bianca Monticellana, Capestrina, Facciuta della Valnerina, Fulva del Lazio, Garganica, Grigia Ciociara, Grigia Molisana, and Teramana), some of which were investigated for the first time; moreover, two cosmopolitan breeds (Alpine and Saanen) were included. Blood samples were collected from 219 goats. Genomic DNA was extracted from whole blood. DNA was used as template in PCR amplification of the entire PRNP open reading frame (ORF). Purified amplicons have been sequenced and aligned to Capra hircus PRNP. Particularly, the alleles carrying the resistance-related 222 K polymorphism occurred in all populations with a frequency between 2.5% and 12.5%. An additional resistance allele carrying the S146 variant was observed with a frequency of 3.7% only in the Alpine breed. For three of the estimated alleles, we could not establish if the found double polymorphisms in heterozygosis were in phase, due to technical limitations. In this context, in addition to selective culling in scrapie outbreaks according to the European regulation in force, in the future, selection plans could be adopted to deal with scrapie and to control its diffusion, meanwhile paying attention to preserve a high variability of PRNP.

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Section: Methodsmentioning

confidence: 99%

PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy

Torricelli

Sebastiani

Ciullo

et al. 2021

Animals

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“…[36] Goats with amino acid variations present at positions 146, 211, and 222, as well as several other sites, show reduced susceptibility to either BSE or sheep scrapie. [24,37,38] Sheep with variations at position 136, 154, and 171, among others, present with a range of susceptibilities to classical scrapie-including, in the case of A 136 R 154 R 171 homozygous sheep, near-complete resistance to infection. [39][40][41] The latter finding has led to a multinational effort to breed sheep towards resistance to classical scrapie infection in areas where the disease is endemic, resulting in a significant decline and near-eradication of the disease in countries employing targeted breeding programs.…”

Section: Introductionmentioning

confidence: 99%

Estimating relative CWD susceptibility and disease progression in farmed white-tailed deer with rare PRNP alleles

et al. 2019

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Chronic wasting disease is a prion disease affecting both free-ranging and farmed cervids in North America and Scandinavia. A range of cervid species have been found to be susceptible, each with variations in the gene for the normal prion protein, PRNP, reportedly influencing both disease susceptibility and progression in the respective hosts. Despite the finding of several different PRNP alleles in white-tailed deer, the majority of past research has focused on two of the more common alleles identified-the 96G and 96S alleles. In the present study, we evaluate both infection status and disease stage in nearly 2100 farmed deer depopulated in the United States and Canada, including 714 CWD-positive deer and correlate our findings with PRNP genotype, including the more rare 95H, 116G, and 226K alleles. We found significant differences in either likelihood of being found infected or disease stage (and in many cases both) at the time of depopulation in all genotypes present, relative to the most common 96GG genotype. Despite high prevalence in many of the herds examined, infection was not found in several of the reported genotypes. These findings suggest that additional research is necessary to more properly define the role that these genotypes may play in managing CWD in both farmed and free-ranging white-tailed deer, with consideration for factors including relative fitness levels, incubation periods, and the kinetics of shedding in animals with these rare genotypes.

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“…However, the latter studies involved mostly small samples (n = 51 -436 goats) of crossbred and undefined goat populations in Greece. Vouraki et al (2018) reported frequencies of approximately 6% for the resistant allele 222K estimated over a larger population sample (n = 551 goats) of two indigenous Greek breeds (Eghoria and Skopelos). A follow-up study on the same dataset found no associations of allele 222K with dairy traits (Vouraki et al, 2019).…”

mentioning

confidence: 93%

“…However, diverse frequencies of these alleles have been observed among and within breeds and countries. Thus, breed-specific studies are necessary for the development of selection schemes in each country (Ricci et al, 2017;Vouraki et al, 2018). Studies of both healthy and affected Greek goats have reported mutations that lead to amino acid substitutions in over 20 codons of the caprine PRNP gene, including the ones that have been associated with scrapie resistance (222K, 146S/D, 211Q) (Billinis et al, 2002;Bouzalas et al, 2010;Fragkiadaki et al, 2011;Kanata et al, 2014).…”

mentioning

confidence: 99%

Genetic improvement of indigenous Greek sheep and goat breeds

Argyriadou¹,

Gelasakis²,

Banos³

et al. 2020

J Hellenic Vet Med Soc

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The objective of the study was twofold: (i) to review the genetics of production and resilience traits of indigenous Greek small ruminant breeds as well as the evolution of national breeding programs, and (ii) explore innovative and feasible approaches to overcome the challenges and constraints towards improving these breeds and enhancing the sustainability of the small ruminant sector. Previous studies on the genetic basis of production and resilience traits of indigenous breeds revealed high improvement potential. However, the lack of follow-up action has failed to produce applicable results. Thus, implementation of scientific findings in existing breeding programs for these breeds is extremely limited. The latter has contributed to the overall poor success of such programs. Furthermore, due to the fact that most farmers do not comprehend the strategic importance of genetic improvement and lack motivation for self-funding, breeding programs have mostly relied on European or government funding; the latter has resulted in intermittent implementation. Therefore, most programs failed to improve performance of indigenous Greek breeds, many of which were consequently replaced by foreign breeds of higher productivity and documented merit. In order to facilitate the design of breeding schemes and overcome the challenges towards improvement of indigenous breeds, an integrative approach is necessary. The latter should be based on identification of specific breeding objectives, reflecting the priorities and needs of the sector, as well as the capacity of the indigenous populations. Scientific advances exemplified by genomic selection and novel reproductive technologies will enable faster and more effective genetic improvement. The overall approach is expected to enhance the competitiveness of indigenous Greek small ruminant breeds and the sustainability of the sector.

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Genetic profile of scrapie codons 146, 211 and 222 in the PRNP gene locus in three breeds of dairy goats

Cited by 13 publications

References 45 publications

PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy

PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy

Estimating relative CWD susceptibility and disease progression in farmed white-tailed deer with rare PRNP alleles

Genetic improvement of indigenous Greek sheep and goat breeds

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