PRNP gene polymorphisms in main indigenous Turkish goat breeds

Akiş, Iraz; Öztabak, Kemal; Atmaca, Gizem; Gürsel, Feraye Esen; Ateş, Atila; Yardibi, Hasret; Gürgöze, Sema; Durak, Mehmet Hanifi; Erez, Ibrahim; Ün, Cemal

doi:10.1007/s11250-019-02070-2

Cited by 8 publications

(14 citation statements)

References 30 publications

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“…The variant T193I was first reported in a recent study by Vitale M. et al, 2019 at a frequency similar to the current observation 12 . The overall frequency of serine to proline substitution at 240 positions in the present study was similar to Anatolian goat breeds (0.08) 26 but higher than the other Ethiopian goat as shown in the above table. G127H143N146R154T193S240 and G127H143S146R154T193P240 were the highest (0.40) haplotypes in www.nature.com/scientificreports www.nature.com/scientificreports/ a study by Vitale et al, 2019.…”

Section: Discussionsupporting

confidence: 82%

“…This variant was also reported in <45 of Tanzanian breeds 23 . The same variant, N146S, has been described in <6% of Anatolian Black goats from Aegean, Mediterranean and South-eastern regions of Turkey 26 . NS146 was reported in 20.4% of healthy Cyproytic goats 27 .…”

Section: Discussionsupporting

confidence: 56%

“…NS146 was reported in 20.4% of healthy Cyproytic goats 27 . R154H variant was detected at a low frequency in Afar(present study), Western highland, Long Eared Somali, and Aegean region goat breeds 12,26 . R154H variant in the Algerian breed has been reported in 15-26% of the study population 9 .…”

Section: Discussionmentioning

confidence: 41%

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Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability

Teferedegn

Yaman

Ün

2020

Sci Rep

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Scrapie is a lethal neurodegenerative disease of sheep and goats caused by the misfolding of the prion protein. Variants such as M142, D145, S146, H154, Q211, and K222 were experimentally found to increase resistance or extend scrapie incubation period in goats. We aimed to identify polymorphisms in the Afar and Arsi-Bale goat breeds of Ethiopia and computationally assess the effect of variants on prion protein stability. In the present study, four non-synonymous novel polymorphisms G67S, W68R, G69D, and R159H in the first octapeptide repeat and the highly conserved C-terminus globular domain of goat PrP were detected. The resistant genotype, S146, was detected in >50% of the present population. The current study population showed a genetic diversity in Ethiopian goat breeds. In the insilico analysis, the R68 variant was predicted to increase stability while S67, D69, and H159 decrease the stability of prion protein. The new variants in the octapeptide repeat motif were predicted to decrease amyloidogenicity but H159 increased the hotspot sequence amyloidogenic propensity. These novel variants could be the source of conformational flexibility that may trigger the gain or loss of function by prion protein. Further experimental study is required to depict the actual effects of variants on prion protein stability. Prion diseases are lethal neurodegenerative disease of humans and animals caused by the misfolding of prion protein 1. Despite being rare, the diseases are lethal and have resulted in huge animal loss over a course of time in several countries 2. The oldest prion disease is scrapie that affects small ruminants 3,4. Though the exact pathomechanism is not yet known, predisposing genetic variants have been documented in different species 5. A wide range of polymorphisms have been identified in goats either as protective or susceptible alleles. A recent review reported the presence of more than 50 polymorphisms in goat prion protein-coding gene (PRNP) 6. Among the variants, G127S, M142I, H143R, N146S, R154H, Q222K, and S240P are the most common substitutions worldwide 7,8. Similarly, R139S in Algeria 9 , A116V in Tanzania 10 , G134E and Q163P in Turkey 11 and G127A and T193I in Ethiopia 12 were novel (at the time of the report) substitutions discovered in the respective area of study. Alleles such as M142, D145, S146, H154, Q211, and K222 were experimentally found to either extend scrapie incubation period or increase resistance 8,13-16. Experimental studies reported the link between sequence variation in the functional domains of prion protein and scrapie disease development 17,18. Substitutions in the palindrome and glycine-rich motifs were identified to affect amyloid fibril formation 19. Although the C terminal globular domain is often involved in the PrP c to PrP Sc conversion process, octapeptide repeat regions are also known to influence the structural dynamics of prion protein. Insertion or deletion of octapeptide repeat for example, induce disease phenotypes 20. According to the FAOSTAT 2017 report, 3...

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Section: Discussionsupporting

confidence: 82%

Section: Discussionsupporting

confidence: 56%

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Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability

Teferedegn

Yaman

Ün

2020

Sci Rep

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“…However, the frequency values of this genotype were zero in the three Turkish goat breeds (Anatolian Black, Angora, and Kilis) [4] and in the two Italian goat breeds (Cilentana and Aspromontana) [46]. For the cited Turkish and Aspromontana Italian goat breeds, the frequencies of P240P were the highest [46,47].…”

Section: Discussionmentioning

confidence: 88%

“…Haplotypes Hp1 and Hp12 were the most common in these populations. High frequencies of these haplotypes have been observed in goats from Italy, France, UK, Spain, Greece, the Netherlands, Norway, Cyprus, Tanzania, Morocco, Japan, USA, China, Algeria, and Ethiopia [9,12,20,[46][47][48][49] and also in Pakistani goat breeds, which were raised near the domestication center [50]. Some PRNP polymorphisms have been associated with different levels of resistance to scrapie.…”

Section: Discussionmentioning

confidence: 99%

Genetic Variation in the Prion Protein Gene (PRNP) of Two Tunisian Goat Populations

Kdidi

Yahyaoui

Conte

et al. 2021

Animals

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Scrapie is a fatal prion disease. It belongs to transmissible spongiform encephalopathies (TSEs), and occurs in sheep and goats. Similarly, to ovine species, the prion protein gene (PRNP) plays a major role in conferring resistance or susceptibility to TSE in goats. This study assesses the variability of PRNP in native and crossed-breed goat populations raised in the Southeast of Tunisia and provides information on the distribution of PRNP haplotypes and genotypes in these goat populations. A total of 116 unrelated goats including 82 native and 34 crossed-breed goats were screened for PRNP polymorphisms using Sanger sequencing. Sequence analysis revealed 10 non-synonymous polymorphisms (G37V, M137I, R139S, I142M, H143R, N146D, R154H, R211Q, Q222K, and S240P), giving rise to 12 haplotypes and 23 genotypes. Moreover, four silent mutations were detected at codons 30, 42, 138, and 179; the former was reported for the first time in goat (nucleotide 60 c→t). Interestingly, the PrP variants associated with resistance (D146 and K222) or with a prolonged incubation time of goat to scrapie (M142, R143, H154, Q211) were absent or detected with low frequencies except for H154 variant, which is present with high frequency (1%, 1%, 4%, 0%, 88%, and 6%, respectively, for native goats, and 0%, 1%, 0%, 1%, 78%, and 1%, respectively, for crossed goats). The analysis of PRNP polymorphisms of goats raised in other regions of the country will be useful in getting a global view of PRNP genetic variability and the feasibility of goat breeding programs in Tunisia.

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Genetic variability of the prion protein gene in Indonesian goat breeds

Widayanti

Artama

Budisatria

et al. 2023

Trop Anim Health Prod

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Scrapie is a naturally occurring transmissible spongiform encephalopathy in sheep and goats. Resistance or susceptibility of small ruminants to classical scrapie is influenced by polymorphisms in the prion protein gene (PRNP). PRNP variability in Indonesian indigenous goat breeds has not been investigated so far and therefore was the goal of this study. Sanger sequencing of the PRNP gene coding region in 72 goats of the seven Indonesian breeds Kacang, Gembrong, Samosir, Kejobong, Benggala, Jawarandu, and Peranakan Etawah revealed three amino acid substitutions, namely W102G, H143R, and S240P. Some silent mutations were also found at codons 42 (a/g), 138 (c/t), and 179 (g/t). The PRNP alleles K222 and D/S146 known to have significant protective effects on resistance to classical scrapie in goats were not detected. The allele R143, which may have a moderate protective effect, had a frequency of 12% among the analyzed Indonesian goat breeds. While R143 was missing in Kacang and Benggala, its frequency was highest in the breed Gembrong (32%). No scrapie cases have been reported in Indonesia until now. However, in the case that selection for protective PRNP variants would become a breeding goal, the analyzed breeds will not be very useful resources. Other goat breeds which are present in the country should be investigated regarding resistance to scrapie, too.

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PRNP gene polymorphisms in main indigenous Turkish goat breeds

Cited by 8 publications

References 30 publications

Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability

Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability

Genetic Variation in the Prion Protein Gene (PRNP) of Two Tunisian Goat Populations

Genetic variability of the prion protein gene in Indonesian goat breeds

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