Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats

Marco Tolone, Maria Vitale, Sergio Migliore, Endrias Zewdu Gebremedhin, Mukarim Abdurahaman, Berhanu Tilahun, Ignazio Sammarco, Vincenzo Di Marco Lo Presti

Risultato della ricerca: Article

Abstract

BackgroundPolymorphisms of the prion protein gene may influence scrapie susceptibility in small ruminants through modified protein conformation. At least 47 amino acid substitutions and 19 silent polymorphisms have been described in goat PRNP reported from several countries. The objective of this study was to investigate PRNP polymorphisms of native Ethiopian goat breeds and compare the results with other goat breeds.ResultsThe analysis of the prion protein gene PRNP in 229 goats belonging to three of the main Ethiopian native goat breeds showed a remarkably high frequency (>34.6%) of p.(Asn146Ser) in these breeds, a variant involved in scrapie resistance in Cyprus. In addition, two novel amino-acid substitutions p.(Gly127Ala) and p.(Thr193Ile), with frequencies ranging from 1.5 to 7.3% were detected. Both amino acids are well conserved in prion proteins (PrP) of most species and these changes have never been reported before in goats worldwide. Residue 127 is within the N-terminal domain of PrP and is probably involved in the recruitment of neural cell adhesion molecules (NCAM). Residue 193 is within the highly conserved string of 4 threonines that plays a role in determining the efficiency of prion protein conversion towards its pathological form.ConclusionTwo novel coding polymorphisms and a high frequency of a scrapie protective variant indicate a high level of genetic diversity in PRNP of Ethiopian goats. This finding increases the interest in exploring PRNP polymorphisms of native goat breeds in areas where cross breeding with foreign goats has rarely occurred.
Lingua originaleEnglish
pagine (da-a)128-
Numero di pagine6
RivistaBMC Veterinary Research
Volume15
Stato di pubblicazionePublished - 2019

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Scrapie
scrapie
prions
amino acid substitution
Amino Acid Substitution
Goats
goat breeds
goats
genetic polymorphism
protein conformation
Cyprus
small ruminants
cell adhesion
threonine
genes
neurons
Prion Proteins
Neural Cell Adhesion Molecules
Protein Conformation
breeds

All Science Journal Classification (ASJC) codes

  • veterinary(all)

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Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats. / Tolone, Marco; Vitale, Maria; Migliore, Sergio; Gebremedhin, Endrias Zewdu; Abdurahaman, Mukarim; Tilahun, Berhanu; Sammarco, Ignazio; Di Marco Lo Presti, Vincenzo.

In: BMC Veterinary Research, Vol. 15, 2019, pag. 128-.

Risultato della ricerca: Article

Tolone, M, Vitale, M, Migliore, S, Gebremedhin, EZ, Abdurahaman, M, Tilahun, B, Sammarco, I & Di Marco Lo Presti, V 2019, 'Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats', BMC Veterinary Research, vol. 15, pagg. 128-.
Tolone, Marco ; Vitale, Maria ; Migliore, Sergio ; Gebremedhin, Endrias Zewdu ; Abdurahaman, Mukarim ; Tilahun, Berhanu ; Sammarco, Ignazio ; Di Marco Lo Presti, Vincenzo. / Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats. In: BMC Veterinary Research. 2019 ; Vol. 15. pagg. 128-.
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title = "Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats",
abstract = "BackgroundPolymorphisms of the prion protein gene may influence scrapie susceptibility in small ruminants through modified protein conformation. At least 47 amino acid substitutions and 19 silent polymorphisms have been described in goat PRNP reported from several countries. The objective of this study was to investigate PRNP polymorphisms of native Ethiopian goat breeds and compare the results with other goat breeds.ResultsThe analysis of the prion protein gene PRNP in 229 goats belonging to three of the main Ethiopian native goat breeds showed a remarkably high frequency (>34.6{\%}) of p.(Asn146Ser) in these breeds, a variant involved in scrapie resistance in Cyprus. In addition, two novel amino-acid substitutions p.(Gly127Ala) and p.(Thr193Ile), with frequencies ranging from 1.5 to 7.3{\%} were detected. Both amino acids are well conserved in prion proteins (PrP) of most species and these changes have never been reported before in goats worldwide. Residue 127 is within the N-terminal domain of PrP and is probably involved in the recruitment of neural cell adhesion molecules (NCAM). Residue 193 is within the highly conserved string of 4 threonines that plays a role in determining the efficiency of prion protein conversion towards its pathological form.ConclusionTwo novel coding polymorphisms and a high frequency of a scrapie protective variant indicate a high level of genetic diversity in PRNP of Ethiopian goats. This finding increases the interest in exploring PRNP polymorphisms of native goat breeds in areas where cross breeding with foreign goats has rarely occurred.",
author = "Marco Tolone and Maria Vitale and Sergio Migliore and Gebremedhin, {Endrias Zewdu} and Mukarim Abdurahaman and Berhanu Tilahun and Ignazio Sammarco and {Di Marco Lo Presti}, Vincenzo",
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T1 - Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats

AU - Tolone, Marco

AU - Vitale, Maria

AU - Migliore, Sergio

AU - Gebremedhin, Endrias Zewdu

AU - Abdurahaman, Mukarim

AU - Tilahun, Berhanu

AU - Sammarco, Ignazio

AU - Di Marco Lo Presti, Vincenzo

PY - 2019

Y1 - 2019

N2 - BackgroundPolymorphisms of the prion protein gene may influence scrapie susceptibility in small ruminants through modified protein conformation. At least 47 amino acid substitutions and 19 silent polymorphisms have been described in goat PRNP reported from several countries. The objective of this study was to investigate PRNP polymorphisms of native Ethiopian goat breeds and compare the results with other goat breeds.ResultsThe analysis of the prion protein gene PRNP in 229 goats belonging to three of the main Ethiopian native goat breeds showed a remarkably high frequency (>34.6%) of p.(Asn146Ser) in these breeds, a variant involved in scrapie resistance in Cyprus. In addition, two novel amino-acid substitutions p.(Gly127Ala) and p.(Thr193Ile), with frequencies ranging from 1.5 to 7.3% were detected. Both amino acids are well conserved in prion proteins (PrP) of most species and these changes have never been reported before in goats worldwide. Residue 127 is within the N-terminal domain of PrP and is probably involved in the recruitment of neural cell adhesion molecules (NCAM). Residue 193 is within the highly conserved string of 4 threonines that plays a role in determining the efficiency of prion protein conversion towards its pathological form.ConclusionTwo novel coding polymorphisms and a high frequency of a scrapie protective variant indicate a high level of genetic diversity in PRNP of Ethiopian goats. This finding increases the interest in exploring PRNP polymorphisms of native goat breeds in areas where cross breeding with foreign goats has rarely occurred.

AB - BackgroundPolymorphisms of the prion protein gene may influence scrapie susceptibility in small ruminants through modified protein conformation. At least 47 amino acid substitutions and 19 silent polymorphisms have been described in goat PRNP reported from several countries. The objective of this study was to investigate PRNP polymorphisms of native Ethiopian goat breeds and compare the results with other goat breeds.ResultsThe analysis of the prion protein gene PRNP in 229 goats belonging to three of the main Ethiopian native goat breeds showed a remarkably high frequency (>34.6%) of p.(Asn146Ser) in these breeds, a variant involved in scrapie resistance in Cyprus. In addition, two novel amino-acid substitutions p.(Gly127Ala) and p.(Thr193Ile), with frequencies ranging from 1.5 to 7.3% were detected. Both amino acids are well conserved in prion proteins (PrP) of most species and these changes have never been reported before in goats worldwide. Residue 127 is within the N-terminal domain of PrP and is probably involved in the recruitment of neural cell adhesion molecules (NCAM). Residue 193 is within the highly conserved string of 4 threonines that plays a role in determining the efficiency of prion protein conversion towards its pathological form.ConclusionTwo novel coding polymorphisms and a high frequency of a scrapie protective variant indicate a high level of genetic diversity in PRNP of Ethiopian goats. This finding increases the interest in exploring PRNP polymorphisms of native goat breeds in areas where cross breeding with foreign goats has rarely occurred.

UR - http://hdl.handle.net/10447/357126

M3 - Article

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SP - 128-

JO - BMC Veterinary Research

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SN - 1746-6148

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