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Protein-based forensic identification using genetically variant peptides in human bone.

Katelyn Elizabeth Mason1, Deon Anex1, Todd Grey2

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Summary
This summary is machine-generated.

Proteomic analysis of bone proteins reveals genetically variant peptides (GVPs) that can infer single nucleotide polymorphism (SNP) genetic profiles. This method allows for the identification of skeletal remains even when DNA is absent.

Keywords:
BoneGenetically variant peptideHuman identificationProteomicsRandom match probabilitySingle amino acid polymorphism

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Area of Science:

  • Forensic science
  • Proteomics
  • Genetics

Background:

  • Bone organic material contains endogenous proteins preserving genetic information through amino acid polymorphisms.
  • These polymorphisms arise from non-synonymous single nucleotide polymorphisms (SNPs) in DNA.
  • Genetically variant peptides (GVPs) can be detected in bone protein digests to infer SNP alleles.

Purpose of the Study:

  • To demonstrate the concept of inferring genetic profiles from bone proteins using proteomic analysis.
  • To establish a method for identifying individuals from skeletal remains independent of DNA.

Main Methods:

  • Proteomic analysis of rib cortical bone samples from 10 individuals.
  • Acidic demineralization to extract proteins, followed by trypsin digestion.
  • Liquid chromatography-mass spectrometry (LC-MS) for analysis of tryptic digests.
  • Inference of SNP alleles from detected GVPs and confirmation via DNA sequencing.

Main Results:

  • Identification of 1736 proteins across all samples, averaging 454±121 per sample.
  • Detection of 35 genetically variant peptides from 15 observed proteins.
  • 134 SNP inferences confirmed by DNA sequencing, yielding genetic profiles with random match probabilities (RMP) up to 1/42,472.
  • Likelihood ratios (LR) calculated using European and African population frequencies ranged from 1.4 to 825 (median 16).

Conclusions:

  • Genetically variant peptides (GVPs) in bone proteins provide a viable method for inferring genetic profiles.
  • This proteomic approach offers a powerful tool for identifying compromised skeletal remains, especially when DNA is degraded or absent.
  • The findings support the use of GVP markers as a DNA-independent identification strategy in forensic investigations.