Highlights
- •Hair shaft proteomic analysis permits testing familial relationships among donors.
- •Hair shaft genetically variant peptides offer quantitative relationship estimates.
- •Protein profiling within families may help distinguish hair shaft anomalies.
Abstract
This study examines the potential of hair shaft proteomic analysis to delineate genetic
relatedness. Proteomic profiling and amino acid sequence analysis provide information
for quantitative and statistically-based analysis of individualization and sample
similarity. Protein expression levels are a function of cell-specific transcriptional
and translational programs. These programs are greatly influenced by an individual’s
genetic background, and are therefore influenced by familial relatedness as well as
ancestry and genetic disease. Proteomic profiles should therefore be more similar
among related individuals than unrelated individuals. Likewise, profiles of genetically
variant peptides that contain single amino acid polymorphisms, the result of non-synonymous
SNP alleles, should behave similarly. The proteomically-inferred SNP alleles should
also provide a basis for calculation of combined paternity and sibship indices. We
test these hypotheses using matching proteomic and genetic datasets from a family
of two adults and four siblings, one of which has a genetic condition that perturbs
hair structure and properties. We demonstrate that related individuals, compared to
those who are unrelated, have more similar proteomic profiles, profiles of genetically
variant peptides and higher combined paternity indices and combined sibship indices.
This study builds on previous analyses of hair shaft protein profiling and genetically
variant peptide profiles in different real-world scenarios including different human
hair shaft body locations and pigmentation status. It also validates the inclusion
of proteomic information with other biomolecular substrates in forensic hair shaft
analysis, including mitochondrial and nuclear DNA.
Keywords
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References
- A global reference for human genetic variation.Nature. 2015; 526: 68-74https://doi.org/10.1038/nature15393
- Structural abnormalities in the hair of a patient with a novel ribosomopathy.PLoS One. 2016; 110149619https://doi.org/10.1371/journal.pone.0149619
American Association of Blood Banks (2013) Annual Report Summary for Testing in 2013. Relationship Testing Program Unit. 〈https://www.aabb.org/docs/default-source/default-document-library/accreditation/2013-relationship-testing-summary-report.pdf?sfvrsn=da4315b2_2〉.
- Controlling the false discovery rate: a practical and powerful approach to multiple testing.J. R. Stat. Soc. Ser. B. 1995; 57: 289-300https://doi.org/10.1016/0306-9877(95)90228-7
- Proteomic genotyping of fingermark donors with genetically variant peptides.Foren. Sci. Int. Genet. 2019; 42: 21-30https://doi.org/10.1016/j.fsigen.2019.05.005
- Second-generation PLINK: rising to the challenge of larger and richer datasets.Gigascience. 2015; 4: 7https://doi.org/10.1186/s13742-015-0047-8
- Hair proteome variation at different body locations on genetically variant peptide detection for protein-based human identification.Sci. Rep. 2019; 9: 7641https://doi.org/10.1038/s41598-019-44007-7
- Proteomic characterization of damaged single hairs recovered after an explosion for protein-based human identification.J. Proteome Res. 2020; 19: 3088-3099https://doi.org/10.1021/acs.jproteome.0c00102
- Comparing the diagnostic classification accuracy of iTRAQ, peak-area, spectral-counting, and emPAI methods for relative quantification in expression proteomics.J. Proteome Res. 2016; 15: 3550-3562https://doi.org/10.1021/acs.jproteome.6b00308
- To grow or not to grow: hair morphogenesis and human genetic hair disorders.Semin. Cell Dev. Biol. 2014; 25–26: 22-33https://doi.org/10.1016/j.semcdb.2013.12.006
- STR-profiling for the differentiation between related and unrelated individuals in cases of citizen rights.Sci. Int. Genet Suppl. Ser. 2008; 1: 510-513https://doi.org/10.1016/j.fsigss.2008.01.002
- Proteomic genotyping: using mass spectrometry to infer SNP genotypes in pigmented and non-pigmented hair.Forensic Sci. Int. 2020; 310110200https://doi.org/10.1016/j.forsciint.2020.110200
- Forensic investigation approaches of searching relatives in DNA databases.J. Forensic Sci. 2021; 66: 430-443https://doi.org/10.1111/1556-4029.14615
- Optimal processing for proteomic genotyping of single human hairs.Forensic Sci. Int. Genet. 2020; 47102314https://doi.org/10.1016/j.fsigen.2020.102314
- Potential etiologic and functional implications of genome-wide association loci for human diseasesand traits.Proc. Natl. Acad. Sci. USA. 2009; 106 (doi: 10.1073pnas.0903103106): 9362-9367
- Rate of de novo mutations and the importance of father’s age to disease risk.Nature. 2012; 488: 471-475https://doi.org/10.1038/nature11396
- Human hair shaft proteomic profiling: individual differences, site specificity and cuticle analysis.PeerJ. 2014; 2: 506https://doi.org/10.7717/peerj.506
- A novel strategy for sibship determination in trio sibling model.Croat. Med. J. 2012; 53: 336-342https://doi.org/10.3325/cmj.2012.53.336
- Human hair histogenesis for the mitochondrial DNA forensic scientist.J. Forensic Sci. 2001; 46: 844-853https://doi.org/10.1520/JFS15056J
- A model for random sampling and estimation of relative protein abundance in shotgun proteomics.Anal. Chem. 2004; 76: 4193-4201https://doi.org/10.1021/ac0498563
- Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.PLoS Genet. 2020; 161009189https://doi.org/10.1371/journal.pgen.1009189
- Short tandem repeat (STR) genotyping of keratinised hair. Part 1. Review of current status and knowledge gaps.Foren. Sci. Int. 2005; 153: 237-246https://doi.org/10.1016/j.forsciint.2005.05.005
- Comparison of protein expression levels and proteomically-inferred genotypes using human hair from different body sites.Foren. Sci. Int: Genet. 2019; 41: 19-23https://doi.org/10.1016/j.fsigen.2019.03.009
- Strenghtening Forensic Science in the United States: A Path Forward.The National Academies Press, 2009: 155-161https://doi.org/10.17226/12589
- A ribosomopathy reveals decoding defective ribosomes driving human dysmorphism.Am. J. Hum. Genet. 2017; 100: 506-522https://doi.org/10.1016/j.ajhg.2017.01.034
- Demonstration of protein-based human identification using the hair shaft proteome.PLoS One. 2016; 110160653https://doi.org/10.1371/journal.pone.0160653
- Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers.Foren. Sci. Int. Genet. 2008; 2: 198-204https://doi.org/10.1016/j.fsigen.2008.02.002
- Age-related changes in hair shaft protein profiling and genetically variant peptides.Forensic Sci. Int. Genet. 2020; 47102309https://doi.org/10.1016/j.fsigen.2020.102309
- The number of STR markers necessary to resolve relationships in deficiency paternity cases.Int. Congr. Ser. 2004; 1261 (doi.org/): 541-543https://doi.org/10.1016/S0531-5131(03)01664-9
- Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics.PLoS One. 2012; 7: 51956https://doi.org/10.1371/journal.pone.0051956
- limma powers differential expression analyses for RNA-sequencing and microarray studies.Nucleic Acids Res. 2015; 43: 47https://doi.org/10.1093/nar/gkv007
- A scaling normalization method for differential expression analysis of RNA-seq data.Genome Biol. 2010; 11: 25https://doi.org/10.1186/gb-2010-11-3-r25
- Guidelines for Mass Fatality DNA Identification Operations.American Association of Blood Banks, 2010
- Determination of sibship in any two persons.Transfusion. 1996; 36: 259-262https://doi.org/10.1046/j.1537-2995.1996.36396182146.x
- Proteomic analysis of hair shafts from monozygotic twins: expression profiles and genetically variant peptides.Proteomics. 2017; 171600462https://doi.org/10.1002/pmic.201600462
- A SNP panel for identification of DNA and RNA specimens.BMC Genom. 2018; 19: 90https://doi.org/10.1186/s12864-018-4482-7
Article info
Publication history
Published online: July 16, 2021
Accepted:
July 14,
2021
Received in revised form:
July 8,
2021
Received:
January 15,
2021
Identification
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