Novel polymorphisms and functional characterization of the prion protein gene in sparrows (Passer montanus)

Chau-Giang Truong1,2, Da-In Choi1,2, Byung-Hoon Jeong1,2

  • 1Korea Zoonosis Research Institute, Jeonbuk National University, Iksan, Jeonbuk, Republic of Korea.

Abstract

Insights

This study reveals genetic variations in the sparrow prion protein gene (PRNP). Identified polymorphisms, including A121V, may influence avian resistance to prion diseases.

Area of Science:

  • Genomics
  • Molecular Biology
  • Veterinary Science

Background:

  • Prion diseases stem from misfolded prion protein (PrP) in mammals.
  • Avian prion infections are undocumented, but the genetic basis for resistance is unknown.
  • Sparrow PRNP gene variation remains largely uncharacterized.

Purpose of the Study:

  • To investigate the genetic diversity of the sparrow PRNP gene.
  • To identify PRNP polymorphisms in sparrows and predict their functional impacts.
  • To establish baseline data for avian prion resistance research.

Main Methods:

  • Sequencing the PRNP coding region from 44 sparrows.
  • Analyzing genotype, allele, haplotype distributions, and linkage disequilibrium.
  • Utilizing in silico tools (PolyPhen-2, SIFT, etc.) and structural modeling to predict functional effects of polymorphisms.

Main Results:

  • Identified 24 polymorphisms in sparrow PRNP, including 9 non-synonymous substitutions and 3 indels.
  • The A121V substitution showed the most detrimental predicted effect on PrP structure and amyloid propensity.
  • Specific indel polymorphisms impacted sparrow PrP solubility; sparrow PrP hexapeptide repeat length is comparable to quail.

Conclusions:

  • This is the first report of PRNP genetic polymorphisms in sparrows.
  • Findings provide crucial baseline data for future avian prion resistance studies.
  • Understanding PRNP variation may elucidate mechanisms of prion disease resistance in birds.

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