Further developments in molecular sex assignment: a blind test of 18th and 19th century human skeletons

Daskalaki, Evangelia; Anderung, Cecilia; Humphrey, Louise; Götherström, Anders

doi:10.1016/j.jas.2011.01.009

Cited by 14 publications

(16 citation statements)

References 48 publications

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“…Nevertheless, it has been reported that 100% of successful sex determinations by osteological measurements only occur when the skeleton is from an adult, it is complete, it is in good condition of preservation, and the morphometric variability in the population to which it belongs is known [46]–[48].…”

Section: Introductionmentioning

confidence: 99%

“…Other methods to sex determination have been proposed such as anthropometric measurements of the limbs [36] – [39] , hands [40] , [41] , and from length of index and ring finger, and the index and ring finger ratio [42] – [45] . Nevertheless, it has been reported that 100% of successful sex determinations by osteological measurements only occur when the skeleton is from an adult, it is complete, it is in good condition of preservation, and the morphometric variability in the population to which it belongs is known [46] – [48] .…”

Section: Introductionmentioning

confidence: 99%

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Sex Determination in Highly Fragmented Human DNA by High-Resolution Melting (HRM) Analysis

2014

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Sex identification in ancient human remains is a common problem especially if the skeletons are sub-adult, incomplete or damaged. In this paper we propose a new method to identify sex, based on real-time PCR amplification of small fragments (61 and 64 bp) of the third exon within the amelogenin gene covering a 3-bp deletion on the AMELX-allele, followed by a High Resolution Melting analysis (HRM). HRM is based on the melting curves of amplified fragments. The amelogenin gene is located on both chromosomes X and Y, showing dimorphism in length. This molecular tool is rapid, sensitive and reduces the risk of contamination from exogenous genetic material when used for ancient DNA studies. The accuracy of the new method described here has been corroborated by using control samples of known sex and by contrasting our results with those obtained with other methods. Our method has proven to be useful even in heavily degraded samples, where other previously published methods failed. Stochastic problems such as the random allele drop-out phenomenon are expected to occur in a less severe form, due to the smaller fragment size to be amplified. Thus, their negative effect could be easier to overcome by a proper experimental design.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Sex Determination in Highly Fragmented Human DNA by High-Resolution Melting (HRM) Analysis

2014

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“…However, in recent years ancient DNA (aDNA) testing has revolutionized bioarchaeological research, and has become widely used for sex estimation in archaeological material (Faerman et al, ; Stone, Milner, Pääbo, & Stoneking ; and more recently Álvarez‐Sandoval, Manzanilla, & Montiel, ; Inskip et al, ). If aDNA is sufficiently preserved and amplified genetic approaches, when used individually or in combination, have demonstrated 100% accuracy in tests on known‐sex individuals (Daskalaki, Anderung, Humphrey, & Götherström, ; Skoglund, Storå, Götherström, & Jakobsson, ). Earlier methods include PCR approaches that target a single locus with X‐Y homology, such as the amelogenin gene (Daskalaki et al, ), or a set of YSTR loci (Tierney & Bird, ).…”

Section: Introductionmentioning

confidence: 99%

“…If aDNA is sufficiently preserved and amplified genetic approaches, when used individually or in combination, have demonstrated 100% accuracy in tests on known‐sex individuals (Daskalaki, Anderung, Humphrey, & Götherström, ; Skoglund, Storå, Götherström, & Jakobsson, ). Earlier methods include PCR approaches that target a single locus with X‐Y homology, such as the amelogenin gene (Daskalaki et al, ), or a set of YSTR loci (Tierney & Bird, ). More recent approaches are based on the assessment of shotgun sequence reads mapping to Y versus X chromosome (Skoglund et al, ).…”

Section: Introductionmentioning

confidence: 99%

Evaluating macroscopic sex estimation methods using genetically sexed archaeological material: The medieval skeletal collection from St John's Divinity School, Cambridge

Inskip

Scheib

Wohns

et al. 2018

American J Phys Anthropol

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Objectives In tests on known individuals macroscopic sex estimation has between 70% and 98% accuracy. However, materials used to create and test these methods are overwhelming modern. As sexual dimorphism is dependent on multiple factors, it is unclear whether macroscopic methods have similar success on earlier materials, which differ in lifestyle and nutrition. This research aims to assess the accuracy of commonly used traits by comparing macroscopic sex estimates to genetic sex in medieval English material. Materials and Methods Sixty‐six individuals from the 13th to 16th century Hospital of St John the Evangelist, Cambridge, were assessed. Genetic sex was determined using a shotgun approach. Eighteen skeletal traits were examined, and macroscopic sex estimates were derived from the os coxae, skull, and os coxae and skull combined. Each trait was tested for accuracy to explore sex estimates errors. Results The combined estimate (97.7%) outperformed the os coxae only estimate (95.7%), which outperformed the skull only estimate (90.4%). Accuracy rates for individual traits varied: Phenice traits were most accurate, whereas supraorbital margins, frontal bossing, and gonial flaring were least accurate. The preauricular sulcus and arc compose showed a bias in accuracy between sexes. Discussion Macroscopic sex estimates are accurate when applied to medieval material from Cambridge. However, low trait accuracy rates may relate to differences in dimorphism between the method derivative sample and the St John's collection. Given the sex bias, the preauricular sulcus, frontal bossing, and arc compose should be reconsidered as appropriate traits for sex estimation for this group.

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“…However, the biological sex of an individual can be assessed by determining the sex chromosomal karyotype. In the case of DNA derived from ancient human remains, a method has been proposed that identifies sex by considering the number of reads in shotgun DNA sequencing data that align to the X and Y chromosomes [ 1 ], which is advantageous over previous PCR-based approaches that targeted sex-specific markers [ 2 – 4 ] and that can easily be compromised by modern contamination [ 5 ]. However, this method relies on at least 100,000 sequences mapping to the human genome for accurate assignment, a prohibitive requirement for many badly preserved ancient remains.…”

Section: Introductionmentioning

confidence: 99%

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

et al. 2016

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In the past decades ancient DNA research has brought numerous insights to archaeological research where traditional approaches were limited. The determination of sex in human skeletal remains is often challenging for physical anthropologists when dealing with incomplete, juvenile or pathological specimens. Molecular approaches allow sexing on the basis of sex-specific markers or by calculating the ratio of DNA derived from different chromosomes. Here we propose a novel approach that relies on the ratio of X chromosome-derived shotgun sequencing data to the autosomal coverage, thus establishing the probability of an XX or XY karyotype. Applying this approach to the individuals of the Upper Paleolithic triple burial of Dolní Věstonice reveals that all three skeletons, including the individual DV 15, whose sex has long been debated due to a pathological condition, were male.

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Further developments in molecular sex assignment: a blind test of 18th and 19th century human skeletons

Cited by 14 publications

References 48 publications

Sex Determination in Highly Fragmented Human DNA by High-Resolution Melting (HRM) Analysis

Sex Determination in Highly Fragmented Human DNA by High-Resolution Melting (HRM) Analysis

Evaluating macroscopic sex estimation methods using genetically sexed archaeological material: The medieval skeletal collection from St John's Divinity School, Cambridge

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

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