PRNP gene variation in Pakistani cattle and buffaloes

Imran, Muhammad; Mahmood, Saqib; Babar, Masroor Ellahi; Hussain, Rashid; Yousaf, Muhammad; Abid, Noman Bin; Lone, Khalid P.

doi:10.1016/j.gene.2012.05.038

Cited by 19 publications

(20 citation statements)

References 44 publications

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“…High frequencies of heterozygous genotypes were found for both regions in this particular study. Bovines of Pakistani breeds have exhibited a high frequency of the 12ins allele (94.07%) (Imran et al 2012). Another bovine representative, the mithun (Bos frontalis), which is the domesticated form of the Asian gaur, has exhibited high allele frequencies of 12ins (77%) and 23ins (82%).…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in the Prion Protein Gene of cattle breeds from Brazil

et al. 2016

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One of the alterations that occur in the PRNP gene in bovines is the insertion/deletion (indel) of base sequences in specific regions, such as indels of 12-base pairs (bp) in intron 1 and of 23- bp in the promoter region. The deletion allele of 23 bp is associated with susceptibility to bovine spongiform encephalopathy (BSE) as well as the presence of the deletion allele of 12 bp. In the present study, the variability of nucleotides in the promoter region and intron 1 of the PRNP gene was genotyped for the Angus, Canchim, Nellore and Simmental bovine breeds to identify the genotype profiles of resistance and/or susceptibility to BSE in each animal. Genomic DNA was extracted for amplification of the target regions of the PRNP gene using polymerase chain reaction (PCR) and specific primers. The PCR products were submitted to electrophoresis in agarose gel 3% and sequencing for genotyping. With the exception of the Angus breed, most breeds exhibited a higher frequency of deletion alleles for 12 bp and 23 bp in comparison to their respective insertion alleles for both regions. These results represent an important contribution to understanding the formation process of the Brazilian herd in relation to bovine PRNP gene polymorphisms.

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Section: Discussionmentioning

confidence: 99%

Polymorphisms in the Prion Protein Gene of cattle breeds from Brazil

et al. 2016

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“…Transmissibility of the H-type atypical BSE to catle which is carrying the E211K mutation was demonstrated [133], on the other hand, some evidences have obtained that the E211K is a germ line mutation, thus, may cause inherited BSE that can be transmited genetically [130]. [138][139][140][141] that is given in Table 7.…”

Section: Resistance In Catlementioning

confidence: 99%

Genetic Resistance to Prion Diseases

Yaman¹,

Ün²

2017

Prion - An Overview

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Prions are abnormal isoforms of the host-encoded cellular prion proteins which are misfolding in its three-dimensional structure acquire pathogenicity. Prions cause transmissible spongiform encephalopathy (TSEs) in humans and some animal species including sheep, goats, catle, cat, deer and elk. TSEs, also called "prion diseases," cause irreversible neurodegeneration in the central nervous system and are always fatal. Cellular prion proteins are encoded by prion protein gene (PRNP) in mammals; moreover, it is known that the variations in the PRNP gene have inluence on the resistance and/or incubation period of the TSEs. It is well-documented that after exposure to the pathogenic prions, development of some TSEs depend on the host PRNP genotype, for example, scrapie in sheep, bovine spongiform encephalopathy (BSE) in catle, Creuzfeldt-Jakob disease (CJD) and kuru in humans, as well. In this chapter, genetic resistance to prion diseases will be reviewed.Keywords: TSE, prion disease, PRNP, genetic resistance IntroductionIt is known that conformational changes in prion protein cause Creuzfeldt-Jakob disease (CJD) in humans, scrapie disease in sheep and goats [1,2], bovine spongiform encephalopathy (BSE) in catle, feline spongiform encephalopathy in cat, and wasting disease in deer and elk.Polymorphisms inside the prion protein-coding gene (PRNP) in humans and also in some mammalian species have been appeared to impact disease susceptibility and pathologies [3]. In human population, kuru and CJD are profoundly related with polymorphism in codon 129. All CDJ afected individuals are known to be homozygous for methionine amino acid in codon 129 while at the same codon heterozygote individuals seem most resistant to kuru [4,5]. Also, it is known that there is a high correlation between the polymorphisms in codons © 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.136, 154, and 171 of the PRNP gene and the level of susceptibility to scrapie in sheep [3,6,7]. In catle, numerous studies were carried out for discovering a relationship amongst BSE and polymorphisms in catle genome [8][9][10][11][12]. The studies about BSE-afected animals in Germany and USA represented the inluence of PRNP promoter polymorphisms on BSE susceptibility in catle [13,14]. The impacts of insertion-deletion (indel) polymorphisms within a location 1.6 kbp upstream of exon 1 and inside intron 1 (23-bp and 12-bp, respectively) on BSE susceptibility are determined by further analyses in catle [15][16][17]. Despite the fact that catle with the -/-23 bp promoter genotype and the -/12 bp intron 1 genotype have both been signiicantly connected with BSE, it could not be reached any consensus on which genotype is most identiied with BSE [13,15,16,18]. In addition, indel polymorphisms that afect the sensitivity o...

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“…Prion diseases are most devastating among sheep and goat as scarapie, in humans as Creutzfeldt Jacob disease, are among the fatal degeneration of brain and known to be caused by missfolded prion protein. The clinical features include aggressive behavior and ataxia, while pathological features of BSE prion are miss folding prion protein plus aggregation, followed by brain's spongiform degeneration (Imran et al, 2012). This protein is associated with indels polymorphism in the promoter and intron 1 regions of PRNP gene (Oztabak et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

Frequencies of the PRNP Gene Polymorphisms in Binglangjiang Buffalo (Bubalus bubalis) for Comparing Potential Susceptibility to BSE

Memon¹

2018

PVJ

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The bovine spongiform encephalopathy (BSE), is a neurodegenerative disorder initiated by miss folded prion protein affecting in cattle. It is associated with a 23 bp indel polymorphism in the putative promoter and a 12 bp indel in intron 1 of the PRNP gene. There is no prior record of investigating for these indels polymorphism from Binglangjiang (BLJ) buffalo. The results of collected 100 samples from BLJ buffalo demonstrated that high insertion of genotype frequencies in 23++ (0.98) and 12++ (0.93) with the allelic frequencies also high in 23 bp (0.980) and 12 bp (0.965) while deletion is considerably low or absent in the allelic as well as in genotype frequencies. Haplotypes data showed different indel polymorphism with absent deletion (0) in both regions of this PRNP gene. A comparative analysis of BLJ buffalo with healthy and BSE affected German and Swiss cattle breeds from European countries was done with the results signifying a difference (P<0.001) in healthy and affected cattle. Significant outcomes were observed after comparison with previous studies on BLJ buffalo. Result demonstrated no genetic vulnerability to in BJL buffalo. Thus, BLJ buffalo can therefore prove to be the most likely model for genetic, selection, breeding and production. To best of our knowledge, this was first study describing indels polymorphism 23 bp & 12 bp in BLJ buffalo (river buffalo) of China. Frequencies of the PRNP gene polymorphisms in Binglangjiang buffalo (Bubalus bubalis) for comparing potential susceptibility to BSE. Pak Vet J, 38(3): 256-260. http://dx.

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PRNP gene variation in Pakistani cattle and buffaloes

Cited by 19 publications

References 44 publications

Polymorphisms in the Prion Protein Gene of cattle breeds from Brazil

Polymorphisms in the Prion Protein Gene of cattle breeds from Brazil

Genetic Resistance to Prion Diseases

Frequencies of the PRNP Gene Polymorphisms in Binglangjiang Buffalo (Bubalus bubalis) for Comparing Potential Susceptibility to BSE

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