A decade of using small-to-medium throughput allele discrimination assay to determine prion protein gene (<i>Prnp</i>) genotypes in sheep in Slovenia

Zabavnik, Jelka; Cotman, Marko; Juntes, Polona; Ambrozic, Ivan

doi:10.1177/1040638717723946

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…The genotypes of the prion protein gene ( PRNP ) play an important role in the susceptibility of sheep and goats to scrapie, a naturally occurring transmissible spongiform encephalopathy (TSE) produced by prions [ 1 ]. While in sheep, numerous studies led to the development of national genetic selection plans in agreement with Regulation (EC) 999/2001 [ 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 ], there are insufficient studies involving local goat populations/breeds to validate Romanian control strategies. In the ovine selection programs for scrapie, the haplotype alanine/arginine/arginine (ARR) at codons 136, 154, and 171 is associated with decreased susceptibility or resistance to scrapie, whereas the haplotypes valine/arginine/glutamine (VRQ) and alanine/arginine/glutamine (ARQ) are linked with high susceptibility to scrapie [ 10 ].…”

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confidence: 99%

Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania

Gurău

Elena

Ionescu

et al. 2022

Genes

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Background: The variability of prion protein gene (PRNP) codons and the frequency of alleles (K222, D146, and S146) that appear to confer genetic resistance to classical scrapie are still unknown in several goat populations/breeds prevalent in Romania. This work aims to assess the genetic polymorphism at 15 PRNP codons in Romanian goat populations to inform the development of goat breeding programs for scrapie resistance. Methods: Whole blood and hair follicles from Carpathian (50), French Alpine (53), and Banat’s White (53) breed goats were sampled to extract genomic DNA for genetic analyses and Sanger sequencing. In the targeted goat groups, one classical scrapie-positive Banat’s White goat was included. Results: The codons without polymorphisms were G37G, W102W, N146N, R151R, S173S, and I218I. The following non-synonymous polymorphisms of PRNP were recorded: P110P, P110S, P110T, T110T, G127G, G127S, I142I, I142M, T142I, H143H, P143P, R143R, R154R, H154R, P168P, Q168Q, Q211Q, Q211R, Q222Q, H222Q, K222K, S240S, P240P, P240S, and S240P. Conclusions: PRNP polymorphism was recorded in 60% (9/15) of codons. The scrapie-positive Banat’s White goat had G37G, W102W, T110T, G127G, I142I, H143H, N146N, R151R, R154R, P168P, S173S, R211R, I218I, Q222Q, and S240S. The K222 allele had a frequency of 6% (3/50) in Carpathian, 9.43% (5/53) in Banat’s White, and 15.09% (8/53) in French Alpine. Therefore, the polymorphisms detected in this sample of Romanian goat breeds are too rare to design a breeding program at the current time.

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Section: Introductionmentioning

confidence: 99%

Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania

Gurău

Elena

Ionescu

et al. 2022

Genes

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“…Atypical scrapie is not an infectious disease and appears sporadically as a degenerative brain disease in elderly sheep [6]. Susceptibility to classical scrapie is associated with valine (V), arginine (R) and glutamine (Q) on codons 136, 154 and 171 respectively, while alanine (A), histidine (H) and arginine (R) on the same codons provide resistance [8,10,11]. The most common haplotypes are ARR, ARQ, AHQ, ARH and VRQ [12].…”

Section: Introductionmentioning

confidence: 99%

Scrapie Resistance Gene Identification using Optimized Taqman Test qPCR Method in Sheep on the Territory of the Republic of Serbia

et al. 2021

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Scrapie is an infectious neurodegenerative disease affecting the central nervous system of sheep and goats that belongs to transmissible spongiform encephalopathies. The disease is caused by the accumulation of proteinase-resistant isoform of the prion protein. The sheep predisposition to scrapie is associated with polymorphisms of the PrP gene. Genetic susceptibility to scrapie is mainly related to codons 136, 154, and 171. ARR sheep are strongly scrapie resistant and VRQ genotype is the most susceptible. Many countries have scrapie eradication programs based on using rams with resistant genotype. The eradication program has not yet been implemented in the Republic of Serbia. To examine the genetic makeup of sheep in Serbia related to scrapie, we optimized TaqMan probes of real-time polymerase chain reaction (qPCR) technique for three codons. Blood samples from 100 sheep were analyzed by qPCR and the majority of the examined sheep were AA homozygous for the 136 codon. For codon 154 the most frequent genotype was RR and for codon 171 the most frequent genotype was QQ.

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“…There are three exons in the ovine PRNP gene, and the open reading frame (ORF) of the PrPc is located in the third exon. Polymorphisms within the third exon of the ovine PRNP gene at codons 136 [7], 141 [8],146 [9], 154 [10], and 171 [11] are closely associated with variation in the phenotypic expression of scrapie. Other regions of PRNP, either independently or in synergy with the coding region, could also influence susceptibility [12].…”

Section: Introductionmentioning

confidence: 99%

Genetic effects of PRNP gene insertion/deletion (indel) on phenotypic traits in sheep

Erdenee

Zhang

et al. 2018

Prion

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Prion protein (PRNP) gene is well known for affecting mammal transmissible spongiform encephalopathies (TSE), and is also reported to regulate phenotypic traits (e.g. growth traits) in healthy ruminants. To identify the insertion/deletion (indel) variations of the PRNP gene and evaluate their effects on growth traits, 768 healthy individuals from five sheep breeds located in China and Mongolia were identified and analyzed. Herein, four novel indel polymorphisms, namely, Intron-1-insertion-7bp (I1-7bp), Intron-2-insertion-15bp (I2-15bp), Intron-2-insertion-19bp (I2-19bp), and 3' UTR-insertion-7bp (3' UTR-7bp), were found in the sheep PRNP gene. In five analyzed breeds, the minor allelic frequencies (MAF) of the above indels were in the range of 0.008 to 0.986 (I1-7bp), 0.113 to 0.336 (I2-15bp), 0.281 to 0.510 (I2-19bp), and 0.040 to 0.238 (3' UTR-7bp). Additionally, there were 15 haplotypes and the haplotype 'I-D-D-D' had the highest frequency, which varied from 0.464 to 0.629 in five breeds. Moreover, association analysis revealed that all novel indel polymorphisms were significantly associated with 13 different growth traits (P < 0.05). Particularly, the influences of I2-15bp on chest width (P = 0.001) in Small Tail Han sheep (ewe), 3' UTR-7bp on chest circumference (P = 0.003) in Hu sheep, and I2-19bp on tail length (P = 0.001) in Tong sheep, were highly significant (P < 0.01). These findings may be a further step toward the detection of indel-based typing within and across sheep breeds, and of promising target loci for accelerating the progress of marker-assisted selection in sheep breeding.

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A decade of using small-to-medium throughput allele discrimination assay to determine prion protein gene (Prnp) genotypes in sheep in Slovenia

Cited by 3 publications

References 17 publications

Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania

Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania

Scrapie Resistance Gene Identification using Optimized Taqman Test qPCR Method in Sheep on the Territory of the Republic of Serbia

Genetic effects of PRNP gene insertion/deletion (indel) on phenotypic traits in sheep

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