Tutankhamen's Familial DNA Tells Tale of Boy Pharaoh's Disease and Incest

TUT'S FAMILY TREE: A new study sheds light on the boy king's incestuous royal lineage and his early death. Image: ISTOCKPHOTO/ELSVANDERGUN
Despite his brief nine-year reign, Tutankhamen is probably the most famous pharaoh of ancient Egypt. Because his tomb had not been robbed at the time of its discovery in 1922, historians have been able to piece together aspects of the boy king's 19-year life. More than 100 walking sticks and "pharmacies" (medicinal seeds, fruits and leaves) found mingled among funeral offerings and other treasures within the tomb suggested that the pharaoh was frail, and two mummified fetuses implied that his offspring might have suffered from lethal genetic defects. But a new study on the Tutankhamen family mummies themselves, published February 16 in JAMA The Journal of the American Medical Association, has provided biological insight into the king's incestuous royal lineage and his early death.

Secretary General Zahi Hawass of Egypt's Supreme Council of Antiquities teamed up with paleogeneticist Carsten Pusch from the University of Tübingen in Germany, to examine Tutankhamen and 10 royal mummies, including the two fetuses, presumed to be related to him for kinship, inherited disorders and infectious diseases. Five mummies that were thought to be unrelated served as morphological and genetic controls. Hawass, Pusch and 15 other scientists continue to perform detailed anthropological, radiological and genetic studies on the precious mummies in a lab built into the basement of the Museum of Egyptian Antiquities in Cairo—two floors below the famous golden mask.

After extracting tiny amounts of ancient DNA from the mummies' bones, the researchers amplified 16 short tandem repeats (short sequences in the DNA that create a genetic fingerprint) and eight polymorphic microsatellites (hereditary molecular markers) to testable quantities using techniques commonly employed in criminal or paternity investigations. They also looked for DNA sequences from the malaria pathogen.

Based on their results so far, the researchers were able to name several mummies who were previously anonymous (referred to only by tomb number), including Tut's grandmother "Tiye" and Tut's father, the KV55 mummy probably named "Akhenaten". "This is the most important discovery since the finding of the tomb of Tutankhamen in 1922," Hawass says. The team also identified the mummy likely to be Tut's mother as KV35YL, not Queen Nefertiti as was once thought. "Now I'm sure that it cannot be Nefertiti, and therefore the mother of King Tut is one of the daughters of Amenhotep III and Tiye—and there are five," Hawass says, adding that he plans to investigate this further.

"The more data we collected, the more the museum specimens came back to life," Pusch says, who admits he was worried about working with such ancient "pharaohic" DNA. "We had 16 mummies," Pusch explained. "You have a lot to do in the lab when you have a single mummy!" But the embalming process used to preserve these royal remains worked in Pusch's favor. "Some embalming really enhances the preservation of genetic material," he says.