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

• Published in: Forensic science international Vol. 288; no. C; pp. 89 - 96
• Main Authors: Mason, Katelyn Elizabeth, Anex, Deon, Grey, Todd, Hart, Bradley, Parker, Glendon
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier B.V 01.07.2018; Elsevier Limited; Elsevier
• Subjects: alleles; Amino acids; BASIC BIOLOGICAL SCIENCES; Bone; bones; Chromatography; Collagen; Cortical bone; data collection; Demineralization; Demineralizing; Deoxyribonucleic acid; DNA; DNA sequencing; Forensic anthropology; Forensic engineering; Forensic osteology; Forensic science; Forensic sciences; Genetically variant peptide; Genomes; Human identification; Human remains; humans; Identification; INORGANIC, ORGANIC, PHYSICAL, AND ANALYTICAL CHEMISTRY; Intellectual property; Ions; Laboratories; Liquid chromatography; Mass spectrometry; Mass spectroscopy; Mathematical analysis; Mitochondrial DNA; National security; Peptides; Population (statistical); probability; Proteins; Proteomics; protocols; R&D; Random match probability; Research & development; Single amino acid polymorphism; Single-nucleotide polymorphism; Statistical analysis; Statistical methods; Trypsin; United States > US; Utah; California; Single amino acid polymorphism; Bone; Human identification; Random match probability; Genetically variant peptide; Proteomics
• ISSN: 0379-0738; 1872-6283; 1872-6283
• DOI: 10.1016/j.forsciint.2018.04.016

•Extraction of human bone proteins are applicable to forensic analysis.•Genetically variant peptides constitute human identification markers.•Bone genetically variant peptides confirmed with sequenced DNA.•Random match probabilities obtained as low as 1 in 42 thousand.•Ancestral information gained from genetically variant peptide profiles. Bone tissue contains organic material that is useful for forensic investigations and may contain preserved endogenous protein that can persist in the environment for extended periods of time over a range of conditions. Single amino acid polymorphisms in these proteins reflect genetic information since they result from non-synonymous single nucleotide polymorphisms (SNPs) in DNA. Detection of genetically variant peptides (GVPs) — those peptides that contain amino acid polymorphisms — in digests of bone proteins allows for the corresponding SNP alleles to be inferred. Resulting genetic profiles can be used to calculate statistical measures of association between a bone sample and an individual. In this study proteomic analysis on rib cortical bone samples from 10 recently deceased individuals demonstrates this concept. A straight-forward acidic demineralization protocol yielded proteins that were digested with trypsin. Tryptic digests were analyzed by liquid chromatography mass spectrometry. A total of 1736 different proteins were identified across all resulting datasets. On average, individual samples contained 454±121 (x¯±σ) proteins. Thirty-five genetically variant peptides were identified from 15 observed proteins. Overall, 134 SNP inferences were made based on proteomically detected GVPs, which were confirmed by sequencing of subject DNA. Inferred individual SNP genetic profiles ranged in random match probability (RMP) from 1/6 to 1/42,472 when calculated with European population frequencies in the 1000 Genomes Project, Phase 3. Similarly, RMPs based on African population frequencies were calculated for each SNP genetic profile and likelihood ratios (LR) were obtained by dividing each European RMP by the corresponding African RMP. Resulting LR values ranged from 1.4 to 825 with a median value of 16. GVP markers offer a basis for the identification of compromised skeletal remains independent of the presence of DNA template.