{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe amelogenin Y gene (AMELY) is a critical marker located on the short arm of the Y chromosome that is routinely used for DNA‐based sex determination in forensic, clinical, and anthropological studies. Its primary “function,” as exploited in many investigations, is to provide a molecular signature for male identity. However, several studies have demonstrated that structural polymorphism in this region – including recurrent interstitial deletions mediated by non‐allelic homologous recombination between TSPY repeat arrays – can result in the loss of AMELY (along with other Y‐linked genes such as PRKY and TBL1Y) without major deleterious phenotypic effects."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nOther investigations have highlighted that point mutations affecting primer‐binding sites or varying sizes of Y chromosome microdeletions may lead to “dropout” of the AMELY allele during PCR-based forensic analyses. This can cause misidentification of a male sample as female, emphasizing the necessity to supplement AMELY with additional sex-specific loci. Furthermore, population surveys – including work on Chinese cohorts – have explored the frequency and variant spectrum of AMELY, while copy number variations (CNVs) detected at the AMEL loci reinforce the importance of evaluating genomic architecture when interpreting forensic profiles."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its utility in modern forensic testing, recent advances have leveraged AMELY-derived peptide fragments from tooth enamel to reliably determine sex in archaeological and poorly preserved remains without destructive sampling. This innovative approach complements traditional Y-chromosome short tandem repeat (Y-STR) and single nucleotide polymorphism (SNP) analyses that also contribute to our broader understanding of Y-chromosome diversity and mutation rates. Such studies underline the critical role of AMELY as both a forensic and anthropological marker, while also alerting researchers to the potential complications arising from genomic rearrangements and CNVs in neighboring regions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mark A Jobling, Iek Chi C Lo, Daniel J Turner, et al. 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