Potential forensic application of DNA methylation profiling to body fluid identification
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DNA analysis of various body fluid stains at crime scenes facilitates the identification of individuals but does not currently determine the type and origin of the biological material. Recent advances in whole genome epigenetic analysis indicate that chromosome pieces called tDMRs (tissue-specific differentially methylated regions) show different DNA methylation profiles according to the type of cell or tissue. We examined the potential of tissue-specific differential DNA methylation for body fluid identification. Five tDMRs for the genes DACT1, USP49, HOXA4, PFN3, and PRMT2 were selected, and DNA methylation profiles for these tDMRs were produced by bisulfite sequencing using pooled DNA from blood, saliva, semen, menstrual blood, and vaginal fluid. The tDMRs for DACT1 and USP49 showed semen-specific hypomethylation, and the tDMRs for HOXA4, PFN3, and PRMT2 displayed varying degrees of methylation according to the type of body fluid. Preliminary tests using methylation-specific PCR for the DACT1 and USP49 tDMRs showed that these two markers could be used successfully to identify semen samples including sperm cells. Body fluid-specific differential DNA methylation may be a promising indicator for body fluid identification. Because DNA methylation profiling uses the same biological source of DNA for individual identification profiling, the determination of more body fluid-specific tDMRs and the development of convenient tDMR analysis methods will facilitate the broad implementation of body fluid identification in forensic casework.
KeywordsBody fluid identification DNA methylation Tissue-specific differentially methylated region
This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2009–0073496 and 2010–0005208).
Conflict of interest
The authors declare that they have no conflict of interest.
- 14.Russo VEA, Martienssen RA, Riggs AD (1996) Epigenetic mechanisms of gene regulation. Cold Spring Harbor Laboratory Press, PlainviewGoogle Scholar
- 15.Tost J (ed) (2008) Epigenetics. Caister Academic Press, NorfolkGoogle Scholar
- 17.Christensen BC, Houseman EA, Marsit CJ, Zheng S, Wrensch MR, Wiemels JL, Nelson HH, Karagas MR, Padbury JF, Bueno R, Sugarbaker DJ, Yeh RF, Wiencke JK, Kelsey KT (2009) Aging and environmental exposures alter tissue-specific DNA methylation dependent upon CpG island context. PLoS Genet 5:e1000602PubMedCrossRefGoogle Scholar
- 24.Doi A, Park IH, Wen B, Murakami P, Aryee MJ, Irizarry R, Herb B, Ladd-Acosta C, Rho J, Loewer S, Miller J, Schlaeger T, Daley GQ, Feinberg AP (2009) Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts. Nat Genet 41:1350–1353PubMedCrossRefGoogle Scholar
- 29.Bitu CC, De Souza Setubal Destro MF, Lopes MA, Jorge J, Graner E, Coletta RD (2008) Dysregulated expression of Hox genes in oral squamous cell carcinomas. Oral presentation #17 at 2008 International Association of Oral Pathologists, San Francisco, USAGoogle Scholar
- 31.Sugimoto K, Koh E, Sin HS, Maeda Y, Narimoto K, Izumi K, Kobori Y, Kitamura E, Nagase H, Yoshida A, Namiki M (2009) Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis. J Hum Genet 54:450–456PubMedCrossRefGoogle Scholar