Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats

Jeong, Min-Ju; Kim, Yongchan; Jeong, Byung‐Hoon

doi:10.1371/journal.pone.0206209

Cited by 16 publications

(14 citation statements)

References 46 publications

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“…The prion gene family consists of four members, the PRNP gene, prion-like protein gene ( PRND ), prion-related protein gene ( PRNT ) and SPRN gene 30–36 . The former three genes are located on chromosome 13 and a strong genetic LD among these genes has been shown in previous studies 36–38 . In addition, the scrapie susceptibility-related PRNP SNPs showed a strong LD with PRND and PRNT SNPs.…”

Section: Discussionsupporting

confidence: 52%

Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats

Kim

Jeong

2019

Sci Rep

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Prion diseases in sheep and goats are called scrapie and belong to a group of transmissible spongiform encephalopathies (TSEs) caused by the abnormal misfolding of the prion protein encoded by the prion protein gene (PRNP). The shadow of the prion protein gene (SPRN) is the only prion gene family member that shows a protein expression profile similar to that of the PRNP gene in the central nervous system. In addition, genetic susceptibility of the SPRN gene has been reported in variant Creutzfeldt–Jakob disease (CJD), bovine spongiform encephalopathy (BSE) and scrapie. However, genetic studies of the SPRN gene have not been carried out in Korean native black goats. Here, we investigated the genotype and allele frequencies of SPRN polymorphisms in 213 Korean native black goats and compared these polymorphisms with those previously reported for scrapie-affected animals. We found a total of 6 polymorphisms including 1 nonsynonymous single nucleotide polymorphism (SNP) and 1 synonymous SNP in the open reading frame (ORF) region and 3 SNPs and 1 indel polymorphism (c.495_496insCTCCC) in the 3′ untranslated region (UTR) by direct DNA sequencing. A significant difference in the allele frequency of the c.495_496insCTCCC indel polymorphism was found between the Italian scrapie-affected goats and the Korean native black goats (P < 0.001). Furthermore, there was a significant difference in the allele frequencies of the c.495_496insCTCCC indel polymorphism between Italian healthy goats and Korean native black goats (P < 0.001). To evaluate the biological impact of the novel nonsynonymous SNP c.416G > A (Arg139Gln), we carried out PROVEAN analysis. PROVEAN predicted the SNP as ‘Neutral’ with a score of −0.297. To the best of our knowledge, this is the first genetic study of the SPRN gene in Korean native black goats.

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Section: Discussionsupporting

confidence: 52%

Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats

Kim

Jeong

2019

Sci Rep

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“…To identify the disease-related polymorphisms in various species, we tried to study the prion protein gene family, including PRNP, PRND and prion-related protein (PRNT) genes (Jeong et al, 2005d;Jeong et al, 2013;Kim and Jeong, 2017a,b;Jeong et al, 2018;Kim and Jeong, 2018a,b,c;Kim et al, 2018;Won et al, 2019). In previous studies, we found only two insertion and deletion polymorphisms in the chicken PRNP gene and one SNP in the horse PRNP gene (Kim and Jeong, 2018b;Kim et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

No polymorphisms in the coding region of the prion-like protein gene in Thoroughbred racehorses

Jeong

2019

Acta Veterinaria Hungarica

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Prion diseases are fatal neurodegenerative diseases characterised by the accumulation of an abnormal prion protein isoform (PrPSc), which is converted from the normal prion protein (PrPC). Prion diseases have been reported in an extensive number of species but not in horses up to now; therefore, horses are known to be a species resistant to prion diseases. The prion-like protein gene (PRND) is closely located downstream of the prion protein gene (PRNP) and the prion-like protein (Doppel) is a homologue with PrP. Previous studies have shown that an association between prion diseases and polymorphisms of the PRND gene is reported in the main hosts of prion diseases. Hence, we examined the genetic variations of the PRND gene in Thoroughbred horses. Interestingly, polymorphisms of the PRND gene were not detected. In addition, we conducted a comparative analysis of the amino acid sequences of the PRND gene to identify the differences between horses and other species. The amino acid sequence of the horse PRND gene showed the highest identity to that of sheep (83.7%), followed by that of goats, cattle and humans. To the best of our knowledge, this is the first genetic study of the PRND gene in horses.

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“…Structural similarities with the PRNP gene and an association with prion disease have been reported in previous studies [44]. Recently, a strong genetic linkage between the PRNP gene and PRND gene was identified, and scrapie-associated SNPs were strictly linked to the genotype of the PRND gene [38,41]. Because those studies have been performed in prion disease-susceptible species, it is elusive whether strong genetic linkage was a prion disease-susceptible factor or a general property among prion gene families.…”

Section: Discussionmentioning

confidence: 82%

“…According to case-controlled studies comparing the genetic distribution of PRND gene polymorphisms in codons 26, 56, 132 and 174 and 3’ untranslated region (UTR) +28, these polymorphisms were involved in the susceptibility to scrapie, BSE and sporadic CJD in ruminants and humans [36,37,38,39,40]. In addition, recent studies have reported a strong linkage disequilibrium (LD) between the PRNP gene and PRND gene in prion disease-susceptible species, sheep and goats [38,41]. However, no study has been conducted on the genetic characteristics of PRND in dogs.…”

Section: Introductionmentioning

confidence: 99%

The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog

Won

Kim

Kim³

et al. 2019

IJMS

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Prion disease has displayed large infection host ranges among several species; however, dogs have not been reported to be infected and are considered prion disease-resistant animals. Case-controlled studies in several species, including humans and cattle, indicated a potent association of prion protein gene (PRNP) polymorphisms in the progression of prion disease. Thus, because of the proximal location and similar structure of the PRNP gene among the prion gene family, the prion-like protein gene (PRND) was noted as a novel candidate gene that contributes to prion disease susceptibility. Several case-controlled studies have confirmed the relationship of the PRND gene with prion disease vulnerability, and strong genetic linkage disequilibrium blocks were identified in prion-susceptible species between the PRNP and PRND genes. However, to date, polymorphisms of the dog PRND gene have not been reported, and the genetic linkage between the PRNP and PRND genes has not been examined thus far. Here, we first investigated dog PRND polymorphisms in 207 dog DNA samples using direct DNA sequencing. A total of four novel single nucleotide polymorphisms (SNPs), including one nonsynonymous SNP (c.149G>A, R50H), were identified in this study. We also found two major haplotypes among the four novel SNPs. In addition, we compared the genotype and allele frequencies of the c.149G>A (R50H) SNP and found significantly different distributions among eight dog breeds. Furthermore, we annotated the c.149G>A (R50H) SNP of the dog PRND gene using in silico tools, PolyPhen-2, PROVEAN, and PANTHER. Finally, we examined linkage disequilibrium between the PRNP and PRND genes in dogs. Interestingly, we did not find a strong genetic linkage between these two genes. To the best of our knowledge, this was the first genetic study of the PRND gene in a prion disease-resistant animal, a dog.

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Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats

Cited by 16 publications

References 46 publications

Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats

Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats

No polymorphisms in the coding region of the prion-like protein gene in Thoroughbred racehorses

The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog

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