Polymorphisms of Two Indels at the PRNP Gene in Three Beef Cattle Herds

Kerber, Alexandre R.; Hepp, Diego; Passos, Daniel Thompsen; Weimer, Tânia de Azevedo

doi:10.1007/s10528-007-9113-y

Cited by 25 publications

(25 citation statements)

References 29 publications

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“…In contrast, the frequency of the ins allele was higher (0.62) than the frequency of the del allele (0.38) in Turkish Gray cattle. In another study, Kerber et al (2008) reported the polymorphisms of two indels at the PRNP gene in three beef cattle breeds in Brazil: Aberdeen Angus, Charolais, and Franqueiro. The study revealed high frequencies of susceptibility alleles (23 and 12 bp deletion) and haplotype 23-12 del in the Aberdeen Angus and Charolais populations, and highest frequencies of resistant alleles in the local Franqueiro breed.…”

Section: Introductionmentioning

confidence: 99%

Populationwide Investigation of Two Indel Polymorphisms at the Prion Protein Gene in Polish Holstein–Friesian Cattle

et al. 2011

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The allele, genotype, and haplotype frequencies among 837 Polish Holstein-Friesian cattle were determined at two regulatory indel polymorphisms of the PRNP gene. Allele frequencies at the 23 bp indel promoter polymorphism were 0.622 (del) and 0.378 (ins), with 0.613 and 0.387 in sires and 0.633 and 0.366 in dams. Allele frequencies at the 12 bp indel intron polymorphism were 0.527 (del) and 0.473 (ins), with 0.529 and 0.471 in sires and 0.543 and 0.456 in dams. Four haplotypes were identified in this population (23-12del, 23-12ins, 23del-12ins, and 23ins-12del). Haplotype 23-12del occurred most frequently in both sire and dam groups. Comparative analysis of Polish Holstein-Friesian and German Holstein populations revealed a similar genetic structure for the 23 bp indel polymorphism and a significantly different one for the 12 bp indel polymorphism. In allele and haplotype analysis, significant differences were observed between the Polish Holstein-Friesian population and a BSE-free German Holstein population.

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Section: Introductionmentioning

confidence: 99%

Populationwide Investigation of Two Indel Polymorphisms at the Prion Protein Gene in Polish Holstein–Friesian Cattle

et al. 2011

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“…Un et al (2008) found high frequencies of the insertion in the 12-bp indel in all the analysed breeds, which was associated with low susceptibility to BSE. Kerber et al (2008) observed high frequencies of susceptibility alleles (23-and 12-bp deletion) and haplotype 23Á12 del in the Aberdeen Angus and Charolais populations, and the highest frequencies of resistant alleles in the local Franqueiro breed. The frequency of the 12-bp deletion varies from 0.14 in German Brown to 0.74 in Japanese Holstein breed (Juling et al 2006;Nakamitsu et al 2006;Kerber et al 2008).…”

Section: Resultsmentioning

confidence: 79%

“…In contrast, the frequency of the ins allele was higher (0.62) than that of the del allele (0.38) in Turkish Gray cattle. In the study by Kerber et al (2008) on three beef cattle breeds (Aberdeen Angus, Charolais and Franqueiro), the frequencies of the del allele were 0.73, 0.68 and Kerber et al 2008). …”

Section: Resultsmentioning

confidence: 96%

ThePRNP ins/deland octapeptide repeat polymorphisms in Jersey cattle and their associations with production traits

Rzewucka-Wójcik

Frost

Jedrzejczak

et al. 2013

Journal of Applied Animal Research

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So far the studies on the prion protein (PRNP) gene have mainly been focused on the search for an association between detected polymorphisms in this gene and the susceptibility of cattle to bovine spongiform encephalopathy. The PRNP gene location on chromosome 13 suggests that the polymorphisms within this gene can be potential quantitative trait locus (QTL) markers for milk production traits. The aim of this study was the analysis of the potential effect of the insertion/deletion polymorphisms within the promoter region (23 bp) and intron 1 (12 bp) of the PRNP gene on milk production traits in Jersey cattle. The study material consisted of 171 Jersey cows. The following milk production traits were analysed: milk yield, milk fat and protein yield, milk fat and protein content. Statistically significant differences were found in milk fat content in the second lactation between animal groups representing the ins/del and del/del genotypes for the 23 bp polymorphism (P50.05). The ins/del 12 bp polymorphism was found to have significant (P 50.05) and highly significant (P50.01) effects on milk yield.

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“…The importance of PrP expression mediated through intron 1 is highlighted by studies looking at polymorphisms and indels in intron 1 and their link to BSE and other prion diseases [37][38][39][40]. In particular, alterations to intron 1 have been studied as a possible risk factor for susceptibility.…”

Section: Discussionmentioning

confidence: 99%

Activation and repression of prion protein expression by key regions of intron 1

Wright

McHugh

Stockbridge

et al. 2009

Cell. Mol. Life Sci.

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Expression of the prion protein is necessary for infection with prion diseases. Altered expression levels may play an important role in susceptibility to infection. Therefore, understanding the mechanisms that regulate prion protein expression is of great importance. It was previously shown that expression of the prion protein is to some degree regulated by an alternative promoter within intron 1. Studies using GFP and luciferase reporter systems were undertaken to determine key sites for the repression and activation of expression of the prion protein driven by intron 1. We identified a region within intron 1 sufficient to drive prion protein expression. Our findings highlight two potential repressor regions. Both regions have binding sites for the known repressor Hes-1. Hes-1 overexpression caused a dramatic decrease in PrP protein expression. Additionally, we have identified Atox-1 as a transcription factor that upregulates prion protein expression. These findings clearly indicate that intron 1 plays a key role in regulation of prion protein expression levels.

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Polymorphisms of Two Indels at the PRNP Gene in Three Beef Cattle Herds

Cited by 25 publications

References 29 publications

Populationwide Investigation of Two Indel Polymorphisms at the Prion Protein Gene in Polish Holstein–Friesian Cattle

Populationwide Investigation of Two Indel Polymorphisms at the Prion Protein Gene in Polish Holstein–Friesian Cattle

ThePRNP ins/deland octapeptide repeat polymorphisms in Jersey cattle and their associations with production traits

Activation and repression of prion protein expression by key regions of intron 1

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