Diagnosis and PrP genotype target of scrapie in clinically healthy sheep of Massese breed in the framework of a scrapie eradication programme

Vascellari, Marta; Aufiero, G. M.; Nonno, Romolo; Agrimi, Umberto; Vaccari, Gabriele; Basilicata, L.; Falcaro, Christian; Mancin, Marzia; Marcon, Stefano; Mutinelli, Franco

doi:10.1007/s00705-005-0564-3

Cited by 15 publications

(15 citation statements)

References 47 publications

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“…These results are in contrast to previous studies carried out in Scotland (Jeffrey et al, 2002) and Iceland (Thorgeirsdottir et al, 2002) in which these genotypes seemed to be more resistant to a scrapie infection. However, the results reported here are in accordance with the results from an outbreak in Italy (Vascellari et al, 2005). The most probable explanation for this difference is that scrapie strains with a bias towards different genotypes had been going round the flocks in question.…”

Section: Discussionsupporting

confidence: 90%

“…This investigation revealed that 30% of these animals were preclinically scrapie-infected and that 7.4% of them were PrP Sc -positive only at the peripheral sites but not in the brain stem, which is routinely tested. This prevalence is within the range of 5% to 30.3% previously reported in similar studies (Jeffrey et al, 2002;Thorgeirsdottir et al 2002;Ersdal et al 2003;Vascellari et al 2005;Gonzalez et al, 2006). The classical scrapie prevalence in a flock depends on different factors: a) length of time period after the introduction of the infection into the flock; b) husbandry measures (e.g.…”

Section: Discussionsupporting

confidence: 80%

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Rapid testing leads to the underestimation of the scrapie prevalence in an affected sheep and goat flock

Reckzeh

Hoffmann

Buschmann

et al. 2007

Veterinary Microbiology

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 80%

Rapid testing leads to the underestimation of the scrapie prevalence in an affected sheep and goat flock

Reckzeh

Hoffmann

Buschmann

et al. 2007

Veterinary Microbiology

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“…However, the simultaneous presence of isoleucine at codon 142 and asparagine at codon 146, as obtained in our study (Table 2), were found to be associated with an atypical TSE in Swiss goats [39]. In addition, the replacement of arginine by histidine in one rural goat at codon 154 (Table 2) has a variable protective effect against TSE, depending on the goat breed [40,41]; actually this mutation (R→H) provided some TSE-protection in Dman and Chaouni goats [42] leading to less frequency in TSE of goats [43]; on the contrary, this substitution (R→H) at codon 154 created a risk factor of atypical TSE in goats [44].…”

Section: Polymorphism In Prion (Prp) Genesupporting

confidence: 62%

Genetic Selection Barriers in Global Development of Rural Goat Production and a Simplified Approach in Identification of Proper Polymorphic Types

Barbour¹,

Saadé²,

Hamadeh³

et al. 2013

J Veterinar Sci Technolo

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“…Polymorphisms at the ovine PrP gene are associated with susceptibility to scrapie. Selection against some PrP alleles is the basis of current breeding programmes implemented to control this disease (Vascellari et al, 2005;Hunter, 2007;Dawson et al, 2008). Sawalha et al (2009) showed a strong significant association of PrP genotypes with coat colour in Badgerfaced Welsh Mountain and Shetland sheep, probably due to Agouti locus alleles.…”

Section: Discussionmentioning

confidence: 99%

Coat colours in the Massese sheep breed are associated with mutations in the agouti signalling protein (ASIP) and melanocortin 1 receptor (MC1R) genes

Fontanesi

Dall’Olio

Beretti

et al. 2011

Animal

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Massese is an Italian dairy sheep breed characterized by animals with black skin and horns and black or apparent grey hairs. Owing to the presence of these two coat colour types, this breed can be considered an interesting model to evaluate the effects of coat colour gene polymorphisms on this phenotypic trait. Two main loci have been already shown to affect coat colour in sheep: Agouti and Extension coding for the agouti signalling protein (ASIP) and melanocortin 1 receptor (MC1R) genes, respectively. The Agouti locus is affected by a large duplication including the ASIP gene that may determine the Agouti white and tan allele (A Wt ). Other disrupting or partially inactivating mutations have been identified in exon 2 (a deletion of 5 bp, D 5 ; and a deletion of 9 bp, D 9 ) and in exon 4 (g.5172T.A, p.C126S) of the ASIP gene. Three missense mutations in the sheep MC1R gene cause the dominant black E D allele (p.M73K and p.D121N) and the putative recessive e allele (p.R67C). Here, we analysed these ASIP and MC1R mutations in 161 Massese sheep collected from four flocks. The presence of one duplicated copy allele including the ASIP gene was associated with grey coat colour (P 5 9.4E-30). Almost all animals with a duplicated copy allele (37 out of 41) showed uniform apparent grey hair and almost all animals without a duplicated allele (117 out of 120) were completely black. Different forms of duplicated alleles were identified in Massese sheep including, in almost all cases, copies with exon 2 disrupting or partially inactivating mutations making these alleles different from the A Wt allele. A few exceptions were observed in the association between ASIP polymorphisms and coat colour: three grey sheep did not carry any duplicated copy allele and four black animals carried a duplicated copy allele. Of the latter four sheep, two carried the E D allele of the MC1R gene that may be the cause of their black coat colour. The coat colour of all other black animals may be determined by non-functional ASIP alleles (non-agouti alleles, A a ) and in a few cases by the E D Extension allele. At least three frequent ASIP haplotypes ([D 5 :g.5172T], [N:g.5172A] and [D 5 :g.5172A]) were detected (organized into six different diplotypes). In conclusion, the results indicated that coat colours in the Massese sheep breed are mainly derived by combining ASIP and MC1R mutations.

show abstract

Diagnosis and PrP genotype target of scrapie in clinically healthy sheep of Massese breed in the framework of a scrapie eradication programme

Cited by 15 publications

References 47 publications

Rapid testing leads to the underestimation of the scrapie prevalence in an affected sheep and goat flock

Rapid testing leads to the underestimation of the scrapie prevalence in an affected sheep and goat flock

Genetic Selection Barriers in Global Development of Rural Goat Production and a Simplified Approach in Identification of Proper Polymorphic Types

Coat colours in the Massese sheep breed are associated with mutations in the agouti signalling protein (ASIP) and melanocortin 1 receptor (MC1R) genes

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