Genes 2018, 9(3), 135; https://doi.org/10.3390/genes9030135
Biological Sexing of a 4000-Year-Old Egyptian Mummy Head to Assess the Potential of Nuclear DNA Recovery from the Most Damaged and Limited Forensic Specimens
Odile Loreille 1,*
, Shashikala Ratnayake 2, Adam L. Bazinet 2
, Timothy B. Stockwell 2, Daniel D. Sommer 2, Nadin Rohland 3, Swapan Mallick 3, Philip L.F. Johnson 4, Pontus Skoglund 5, Anthony J. Onorato 1, Nicholas H. Bergman 2, David Reich 3,6 and Jodi A. Irwin 1
, Timothy B. Stockwell 2, Daniel D. Sommer 2, Nadin Rohland 3, Swapan Mallick 3, Philip L.F. Johnson 4, Pontus Skoglund 5, Anthony J. Onorato 1, Nicholas H. Bergman 2, David Reich 3,6 and Jodi A. Irwin 11
DNA Support Unit, FBI Laboratory, 2501 Investigation Parkway, Quantico, VA 22135, USA
2
National Biodefense Analysis and Countermeasures Center, 8300 Research Plaza, Fort Detrick, MD 21702, USA
3
Department of Genetics Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
4
Department of Biology, University of Maryland, 1210 Biology-Psychology Building, 4094 Campus Drive, College Park, MD 20742, USA
5
The Francis Crick Institute, 1 Midland Rd, London NW1 1AT, UK
6
Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA
*
Author to whom correspondence should be addressed.
Received: 12 January 2018 / Revised: 6 February 2018 / Accepted: 6 February 2018 / Published: 1 March 2018
(This article belongs to the Special Issue Forensic Genomics)
Abstract
High throughput sequencing (HTS) has been used for a number of years in the field of paleogenomics to facilitate the recovery of small DNA fragments from ancient specimens. Recently, these techniques have also been applied in forensics, where they have been used for the recovery of mitochondrial DNA sequences from samples where traditional PCR-based assays fail because of the very short length of endogenous DNA molecules. Here, we describe the biological sexing of a ~4000-year-old Egyptian mummy using shotgun sequencing and two established methods of biological sex determination (RX and RY), by way of mitochondrial genome analysis as a means of sequence data authentication. This particular case of historical interest increases the potential utility of HTS techniques for forensic purposes by demonstrating that data from the more discriminatory nuclear genome can be recovered from the most damaged specimens, even in cases where mitochondrial DNA cannot be recovered with current PCR-based forensic technologies. Although additional work remains to be done before nuclear DNA recovered via these methods can be used routinely in operational casework for individual identification purposes, these results indicate substantial promise for the retrieval of probative individually identifying DNA data from the most limited and degraded forensic specimens. View Full-TextKeywords:
Egypt; ancient DNA; high throughput sequencing; hybridization capture; mitochondrial genome; mtGenome; mummy; sexing
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Loreille, O.; Ratnayake, S.; Bazinet, A.L.; Stockwell, T.B.; Sommer, D.D.; Rohland, N.; Mallick, S.; Johnson, P.L.; Skoglund, P.; Onorato, A.J.; Bergman, N.H.; Reich, D.; Irwin, J.A. Biological Sexing of a 4000-Year-Old Egyptian Mummy Head to Assess the Potential of Nuclear DNA Recovery from the Most Damaged and Limited Forensic Specimens. Genes 2018, 9, 135.
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