100K Year Old Human Skull Fossil Reveals Signs of Inbreeding

Fragments of an early human skull dating back 100,000 years exhibit a now-rare congenital deformation that indicates inbreeding might well have been common among our ancestors, a new study led by Chinese scientists suggests.

100,000 year old human skull fossil, known as Xujiayao 11 (Wu X-J et al)

100,000 year old human skull fossil, known as Xujiayao 11 (Wu X-J et al)

The skull fossil, found at Xujiayao in the Nihewan Basin of northern China, has an unusual perforation through the top of the brain case – an enlarged parietal foramen or ‘hole in the skull’ – that is consistent with modern humans diagnosed with a rare genetic mutation in the homeobox genes ALX4 on chromosome 11 and MSX2 on chromosome 5.

These specific genetic mutations interfere with bone formation and prevent the closure of small holes in the back of the prenatal braincase, a process that is normally completed within the first five months of fetal development. It occurs in about one out of every 25,000 modern human births.

Although this genetic abnormality is sometimes associated with cognitive deficits, the older adult age of the skull suggests that any such deficits in this individual were minor.

Traces of genetic abnormalities, such as the enlarged parietal foramen, are seen unusually often in the skulls of Pleistocene humans, from early Homo erectus to the end of the Paleolithic.

Prof Erik Trinkaus from the Washington University in St. Louis, senior author of the study published in the journal PLoS ONE, said: “the probability of finding one of these abnormalities in the small available sample of human fossils is very low, and the cumulative probability of finding so many is exceedingly small.”

“The presence of the Xujiayao and other Pleistocene human abnormalities therefore suggests unusual population dynamics, most likely from high levels of inbreeding and local population instability.”

“It therefore provides a background for understanding populational and cultural dynamics through much of human evolution.”


Bibliographic information: Wu X-J et al. 2013. An Enlarged Parietal Foramen in the Late Archaic Xujiayao 11 Neurocranium from Northern China, and Rare Anomalies among Pleistocene Homo. PLoS ONE 8 (3): e59587; doi: 10.1371/journal.pone.0059587