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Title: Demonstration of protein-based human identification using the hair shaft proteome [Protein-based human identification: A proof of concept using the hair shaft proteome]

Human identification from biological material is largely dependent on the ability to characterize genetic polymorphisms in DNA. Unfortunately, DNA can degrade in the environment, sometimes below the level at which it can be amplified by PCR. Protein however is chemically more robust than DNA and can persist for longer periods. Protein also contains genetic variation in the form of single amino acid polymorphisms. These can be used to infer the status of non-synonymous single nucleotide polymorphism alleles. To demonstrate this, we used mass spectrometry-based shotgun proteomics to characterize hair shaft proteins in 66 European-American subjects. A total of 596 single nucleotide polymorphism alleles were correctly imputed in 32 loci from 22 genes of subjects’ DNA and directly validated using Sanger sequencing. Estimates of the probability of resulting individual non-synonymous single nucleotide polymorphism allelic profiles in the European population, using the product rule, resulted in a maximum power of discrimination of 1 in 12,500. Imputed non-synonymous single nucleotide polymorphism profiles from European–American subjects were considerably less frequent in the African population (maximum likelihood ratio = 11,000). The converse was true for hair shafts collected from an additional 10 subjects with African ancestry, where some profiles were more frequent in the Africanmore » population. Genetically variant peptides were also identified in hair shaft datasets from six archaeological skeletal remains (up to 260 years old). Furthermore, this study demonstrates that quantifiable measures of identity discrimination and biogeographic background can be obtained from detecting genetically variant peptides in hair shaft protein, including hair from bioarchaeological contexts.« less
ORCiD logo [1] ;  [2] ;  [3] ;  [4] ;  [5] ;  [5] ;  [5] ;  [5] ;  [6] ;  [6] ;  [5] ;  [7] ;  [8] ;  [6] ;  [9] ;  [4] ;  [3] ;  [5] ;  [10]
  1. Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Utah Valley Univ., Orem, UT (United States); Protein-Based Identification Technologies, L.L.C., Orem, UT (United States)
  2. Protein-Based Identification Technologies, L.L.C., Orem, UT (United States)
  3. Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)
  4. Montana State Univ., Bozeman, MT (United States)
  5. Univ. of Utah, Salt Lake City, UT (United States)
  6. Univ. of California, Davis, CA (United States)
  7. Utah Valley Univ., Orem, UT (United States)
  8. Univ. of Bradford, Bradford (United Kingdom)
  9. Sorenson Molecular Genealogical Foundation, Salt Lake City, UT (United States)
  10. Univ. Pompeu Fabra (Spain)
Publication Date:
Report Number(s):
Journal ID: ISSN 1932-6203
Grant/Contract Number:
AC52-07NA27344; B601942; B607766; #121668; #132043
Published Article
Journal Name:
Additional Journal Information:
Journal Volume: 11; Journal Issue: 9; Journal ID: ISSN 1932-6203
Public Library of Science
Research Org:
Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)
Sponsoring Org:
Country of Publication:
United States
59 BASIC BIOLOGICAL SCIENCES; peptides; proteomic databases; membrane proteins; genetic loci; alleles; proteomes; archaeology; haplotypes
OSTI Identifier:
Alternate Identifier(s):
OSTI ID: 1335793