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  • Sex estimation based on the analysis of enamel peptides [Elektronski vir] : false assignments due to AMELY deletion
    Štamfelj, Iztok
    Recently, proteomic analysis of sex-specific amelogenin peptides in tooth enamel has been proposed as a promising new method for the assignment of sex to human skeletal remains in archaeological and ... forensic settings. The method was initially based on the surface acid etching of tooth enamel and subsequent identifi-cation of a marker peptide that could be attributed to sex-chromosome specific amelogenins via mass spec-trometry. The previous three years have brought forth several technical improvements that increased sensitivity of the method, notably development of new enamel protein extraction techniques, advanced bioinformatic data processing for the detection of multiple sex-specific amelogenin peptides and statistical framework for the estimation of both male and female sexes. This focus article shows that the proteomic method, even after these technical improvements, has the same limitation as the PCR-based amelogenin sex tests do, which directly use amelogenin alleles as markers for the sex chromosomes. The fact is that tooth enamel in some phenotypically normal males lacks Y amelogenin-specific peptides as a result of the Y amelogenin allele (AMELY) deletion. The prevalence of AMELY negative males is generally lower than 1% but may approach 10% in Indian subcontinent populations. Genetic studies indicate that the alteration might be several thousand years old. Using a proteomic approach to sex estimation, these individuals would be falsely identified as females with a potentially significant impact on forensic investigations or archaeological work. Therefore, this possibility should be taken into consideration even in populations with a low frequency of AMELY deletion and regardless of the female sex probability predicted by the existing statistical model. Unfortunately, no proteomics-based control measures exist because the genes for non-amelogenin proteins (ameloblastin, enamelin, and tuftelin) are located on autosomal chromosomes.
    Vir: Journal of archaeological science [Elektronski vir]. - ISSN 1095-9238 (Vol. 130, 2021, str. [1]-4)
    Vrsta gradiva - e-članek ; neleposlovje za odrasle
    Leto - 2021
    Jezik - angleški
    COBISS.SI-ID - 63475203

    Povezava(-e):

    https://www.sciencedirect.com/science/article/pii/S0305440321000157
    DOI

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