Investigation of the prion protein gene (PRNP) polymorphisms in Anatolian, Murrah, and crossbred water buffaloes (Bubalus bubalis)

Yaman, Yalçın; Karadağ, Orhan; Ün, Cemal

doi:10.1007/s11250-016-1185-4

Cited by 8 publications

(5 citation statements)

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“…The characteristic of TSE is the accumulation of PrP sc (pathological protease-resistant isoform), which is generated as a result of post-translational modification and changed in the stereochemical conformation of host-encoded, cellular prion proteins (PrP c ) (Prusiner 1998). According to reports, the polymorphisms of PRNP have been shown to influence incubation and the susceptibility of these diseases such as BSE and the incubation period in humans (Shibuya et al 1998;Shi et al 2016), mice (Moore et al 1998;Aguilar-Calvo et al 2014), goats (Vitale et al 2016), sheep (Stepanek and Horin 2017) and buffaloes (Yaman et al 2017).…”

Section: Introductionmentioning

confidence: 99%

The evaluation of 23-bp and 12-bp insertion/deletion within the PRNP gene and their effects on growth traits in healthy Chinese native cattle breeds

Yang

Zhang

Liu

et al. 2017

Journal of Applied Animal Research

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Polymorphisms in the prion protein gene (PRNP) have been linked with the occurrence of transmissible spongiform encephalopathies and the expression of some phenotypic traits in healthy animals including cattle. The aim of this study was to verify the 23-bp insertion/deletion (indel) within promoter region and the 12-bp indel within intron 1 of PRNP, as well as to evaluate their associations with growth traits. Two loci of PRNP were genotyped in 1558 healthy Chinese cattle sampled from 6 indigenous breeds. Moreover, phenotypic records for growth were used to find the relationship between PRNP polymorphisms and phenotypic performance. The results confirmed the occurrence of these two indel polymorphisms in the analysed breeds. Association analysis showed that the 23-bp indel was significantly related to the body length and heart girth in 18-months-old Nanyang cattle. The 12-bp indel was significantly related to the growth traits in three cattle breeds, such as the body weight in Xia'nan cattle, the daily gained weight in 12-months-old Nanyang cattle and the cannon circumference and rump length in Ji'an cattle. These findings indicated that these two indels may affect bovine growth traits, which could benefit to healthy cattle selection and breeding through marker-assisted selection.

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Section: Introductionmentioning

confidence: 99%

The evaluation of 23-bp and 12-bp insertion/deletion within the PRNP gene and their effects on growth traits in healthy Chinese native cattle breeds

Yang

Zhang

Liu

et al. 2017

Journal of Applied Animal Research

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“…In-variant frequency of 12 bp polymorphism vary between 0.104/0.11 Guangxi buffalo breed and Hereford cattle breed (Zhu et al, 2011;Zhao et al, 2015) and 0.99/1.0 Guangnan, Dehong, Chongqing and Guizhou buffalo breed (Zhao et al, 2015). The 12 bp indels polymorphism in BLJ buffalo is similar to others breed of buffalo such as Anatolian Water Buffalo, Azikheli, Chinese swamp buffalos (Chongqing and Guizhou, Dehong, Fuhan and Hainan, Guangnan and Guandong), Kundhi, Murrah, Nili and Ravi buffalos (Oztabak et al, 2009;Imran et al, 2012;Zhao et al, 2015;Yaman et al, 2016) except Guangxi breed of Chinese swamp buffalo the 12-bp indel is vary from others buffalo (Zhao et al, 2015) (Table 3).…”

Section: Discussionmentioning

confidence: 62%

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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“…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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Investigation of the prion protein gene (PRNP) polymorphisms in Anatolian, Murrah, and crossbred water buffaloes (Bubalus bubalis)

Cited by 8 publications

References 8 publications

The evaluation of 23-bp and 12-bp insertion/deletion within the PRNP gene and their effects on growth traits in healthy Chinese native cattle breeds

The evaluation of 23-bp and 12-bp insertion/deletion within the PRNP gene and their effects on growth traits in healthy Chinese native cattle breeds

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

Genetic Resistance to Prion Diseases

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