LINE-1 DNA methylation: A potential forensic marker for discriminating monozygotic twins

Xu, Jie; Fu, Guangping; Yan, Lei; Craig, Jeff; Zhang, Xiaojing; Fu, Lihong; Ma, Chunling; Li, Shujin; Cong, Bin

doi:10.1016/j.fsigen.2015.07.014

Cited by 31 publications

(25 citation statements)

References 35 publications

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“…LINE-1 methylation was investigated in both blood and buccal cells from a total of 119 MZ pairs using bisulfite pyrosequencing. Authors detected statistically significant tissue differences and were able to distinguish only a subset (12.61%) of MZ pairs (n=15 pairs) using this specific region (3 CpG 6 sites) in blood [26]. Also, the detected CpG methylation was significantly correlated with gender in blood and with age in buccal cells (p=0.001), highlighting the complexity of epigenetic patterns.…”

Section: Introductionmentioning

confidence: 98%

“…Although the extent of these differences, and to what degree they are shared by different MZ twin pairs, is yet not understood, the potential of using DNA methylation to distinguish between MZ twins for forensic purposes has already been recognized [23][24][25][26][27][28], albeit via limited studies. In an initial study, Li et al tested blood DNA samples of 22 adult MZ twin pairs by using the Illumina Infinium Human Methylation 27K BeadChip array that allows for the co-analysis of 27,578 CpG sites, which revealed significant DNA methylation differences (377 CpG sites, methylation difference >0.17) [23].…”

Section: Introductionmentioning

confidence: 99%

“…Using a more targeted approach, forensic researchers have also explored the possibility of using differential methylation patterns within satellite DNA, and more specifically within interspersed repeats such as LINE-1 [26] and Alu sequences [27]. LINE-1 methylation was investigated in both blood and buccal cells from a total of 119 MZ pairs using bisulfite pyrosequencing.…”

Section: Introductionmentioning

confidence: 99%

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Epigenetic discrimination of identical twins from blood under the forensic scenario

Vidaki

López

Carnero‐Montoro

et al. 2017

Forensic Science International: Genetics

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Monozygotic (MZ) twins share the same STR profile, demonstrating a practical problem in forensic casework. DNA methylation has provided a suitable resource for MZ twin differentiation; however, studies addressing the forensic feasibility are lacking. Here, we investigated epigenetic MZ twin differentiation from blood under the forensic scenario comprising i) the discovery of candidate markers in reference-type blood DNA via genome-wide analysis, ii) the technical validation of candidate markers in reference-type blood DNA using a suitable targeted method, and iii) the analysis of the validated markers in trace-type DNA. Genome-wide methylation analysis in blood DNA from 10 MZ twin pairs resulted in 19-111 twin-differentially methylated sites (tDMSs) per pair with >0.3 twin-to-twin differences. Considering all top three candidate tDMSs across all pairs in the technical validation based on methylation-specific qPCR, 67.85% generated >0.1 twin-to-twin differences. Of the validated tDMSs, 68.4% showed >0.1 twin-to-twin differences with qPCR in trace-type DNA across 8 pairs. Using an updated marker selection strategy, 8 additional candidate tDMSs were obtained for an example MZ pair, of which 7 showed >0.1 twin-to-twin differences in both reference- and trace-type DNA. Lastly, we introduce a high-resolution melting curve analysis of the entire fragment that can complement the proposed approach. Overall, our study demonstrates the general feasibility of epigenetic twin differentiation in the forensic context and highlights that the number of informative tDMSs in the final trace DNA analysis is crucial, as some candidate markers identified in reference DNA were shown not informative in the trace DNA due to various, including technical, reasons. Future studies will need to address the optimal number of epigenetic markers required for reliable identification of MZ twin individuals including statistical considerations.

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Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Epigenetic discrimination of identical twins from blood under the forensic scenario

Vidaki

López

Carnero‐Montoro

et al. 2017

Forensic Science International: Genetics

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“…sendo que a ilha CpG1 foi a mais discriminativa seguida pela CpG3 e CpG2. Além disso, amostras sanguíneas e bucais de um mesmo indivíduo mostraram significante diferença no padrão de metilação e este não se relacionou com a idade do indivíduo para amostras sanguíneas, mas houve relação no caso das amostras bucais, para as quais houve aumento da metilação com o avanço da idade 19 .…”

Section: Evidências Genéticas Da Diferenciação De Gêmeos Monozigóticosunclassified

“…Além disso, a relação entre idade e metilação podem estimar a idade em investigações forenses, porém, o padrão de metilação no indivíduo pode ser significativamente diferente do obtido em uma mancha que tenha sido estocada por um período de tempo, podendo levar à falsa exclusão 19 . As pesquisas relacionadas à diferenciação de gêmeos MZ são um grande avanço para genética forense, contudo, há a necessidade de realização de novos estudos para a identificação de mais marcadores que possam contribuir para o desenvolvimento de sistemas genéticos com elevado poder de discriminação nestes indivíduos, bem como para a maior compreensão da origem destas diferenças genéticas e da forma como elas se apresentam em diferentes tecidos.…”

Section: Evidências Genéticas Da Diferenciação De Gêmeos Monozigóticosunclassified

Diferenciação Genética de Gêmeos Monozigóticos: Uma Importante Evidência para Área Forense

Antonio¹,

Pereira²,

Ferraz³

2017

BJFS

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Resumo. Gêmeos monozigóticos (MZ) derivam de um único zigoto e geralmente são indistinguíveis pela realização do teste genético padrão, o qual avalia marcadores do tipo repetições curtas consecutivas (Short Tandem Repeats, STR) que apenas confirmam a monozigosidade destes indivíduos. Contudo, outros marcadores genéticos estão sendo analisados para a diferenciação dos mesmos. O objetivo do presente artigo é apresentar, através de uma revisão bibliográfica, as tecnologias utilizadas para se obter a diferenciação de gêmeos MZ e as evidências genéticas que corroboram tais dados. Para isso, foram selecionados 68 artigos científicos sendo que seis destes tratavam especificamente do referido tema, mostrando a deficiência de estudos nesta área. Os descritores utilizados foram DNA, gêmeos monozigóticos, genética e diferenciação celular. Apenas em um caso, um padrão tri-alélico extremamente raro no marcador STR vWA foi utilizado para solucionar um caso criminal com gêmeos MZ. Por outro lado, a análise de polimorfismos de nucleotídeo único (Single Nucleotide Polymorphism, SNP) nucleares e do perfil de metilação do DNA têm se mostrado eficientes na diferenciação de gêmeos MZ. Além disso, a genotipagem do DNA mitocondrial também revelou diferentes perfis de SNPs entre estes indivíduos, com a vantagem do sequenciamento do genoma mitocondrial ser mais barato que o nuclear e ter maior possibilidade de tipagem em amostras com DNA degradado ou

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Evaluation of massively parallel sequencing for forensic DNA methylation profiling

et al. 2018

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Epigenetics is an emerging area of interest in forensic science. DNA methylation, a type of epigenetic modification, can be applied to chronological age estimation, identical twin differentiation and body fluid identification. However, there is not yet an agreed, established methodology for targeted detection and analysis of DNA methylation markers in forensic research. Recently, a massively parallel sequencing-based approach has been suggested. The use of massively parallel sequencing is well established in clinical epigenetics and is emerging as a new technology in the forensic field. This review investigates the potential benefits, limitations, and considerations of this technique for the analysis of DNA methylation in a forensic context. The importance of a robust protocol, regardless of the methodology used, which minimizes potential sources of bias is highlighted.

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LINE-1 DNA methylation: A potential forensic marker for discriminating monozygotic twins

Cited by 31 publications

References 35 publications

Epigenetic discrimination of identical twins from blood under the forensic scenario

Epigenetic discrimination of identical twins from blood under the forensic scenario

Diferenciação Genética de Gêmeos Monozigóticos: Uma Importante Evidência para Área Forense

Evaluation of massively parallel sequencing for forensic DNA methylation profiling

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