Latest-generation DNA sequencing technology helped scientists achieve this feat
This spring, a particularly interesting milestone on the road to genetic medicine was achieved. The genome of Neanderthal man has been sequenced at the 1X level. It is a remarkable accomplishment by scientists from both the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and 454 Life Sciences Inc. , a division of Roche Holdings.
The final Neanderthal draft sequence is made up of three billion bases of Neanderthal DNA. This represents an estimated two-thirds of the entire genome. A research team has been assembled to evaluate and analyze the Neanderthal genome. Their findings may be published by the end of the year.
The goal of this project is to advance the understanding of human evolutionary history. Last year, as a first step to sequencing the entire Neanderthal genome, the Neanderthal Genome Project announced that it had mapped a complete Neanderthal mitochondrial (mtDNA) genome sequence, using DNA reconstructed from a 38,000-year old Neanderthal bone fragment excavated in Croatia in 1980. The scientists have also finished an 18-fold draft sequence of the Bonobo Chimpanzee.
Scientists expect to locate regions in the genome which indicate how humans underwent rapid evolution since the split from Neanderthals. The Bonobo chimpanzee reference genome sequences will help in this comparison. Scientists report that their assessment of the number of nucleotide differences of the mitochondrial DNA puts the date of divergence between human and Neanderthal mtDNAs at 660,000 years ago (+/- 140,000 years).
454 Life Sciences participated in the Neanderthal Genome Project as a way to demonstrate the capabilities of its DNA sequencing technology. One major challenge was the highly-degraded and contaminated genetic material. Another was the limited amount of fossil DNA available for use in the study.
For clinical laboratory managers and pathologists, the ability to sequence DNA recovered from Neanderthal fossils demonstrates how rapidly molecular technologies are improving. Sequencing speeds are accelerating while sequencing costs are steadily dropping. Along with these additional capabilities, the ability to sequence less-than-perfect DNA specimens is continually improving.
But there is more to this story than just innovations to molecular technologies. The scientific knowledge gained in studying the evolution of the human genome will result in new knowledge that will find its way into in vitro diagnostics (IVD) and clinical practice. It is ironic that insights gained from sequencing the Neanderthal genome may contribute to improved clinical outcomes for modern man!