The study, "Novel North American Hominins, Next Generation Sequencing of Three Whole Genomes and Associated Studies," was conducted by a team of experts in genetics, forensics, imaging and pathology. The team, led by Dr. Melba S. Ketchum of DNA Diagnostics in Nacogdoches, TX, included Dr. Pat Wojtkiecicz, Director of the North Louisiana Criminalistics Laboratory; Ms. Aliece Watts of Integrated Forensic Laboratories in Euless, TX; Mr. David Spence, Trace Evidence Supervisor at Southwestern Institute of Forensic Sciences; Dr. Andreas K. Holzenburg, Director of the Microscopy & Imaging Center at Texas A&M University; Dr. Douglas G. Toler of Huguley Pathology Consultants in Fort Worth, TX; Dr. Thomas M. Prychitko of Helix Biological Laboratory in Michigan; Dr. Fan Zhang of the University of North Texas Health Science Center; and Sarah Bollinger, Ray Shoulders, and Ryan Smith of DNA Diagnostics.
In total, 111 specimens of purported Sasquatch hair, blood, skin, and other tissue types were analyzed for the study. Samples were submitted by individuals and groups at 34 different hominin research sites in 14 U.S. states and two Canadian provinces. Ketchum's team sequenced 20 whole and 10 partial mitochondrial genomes, as well as 3 whole nuclear genomes, from the samples.
Mitochondrial DNA (mtDNA) comes from mitochondria, energy-producing organelles in the cellular cytoplasm, and is passed down on the maternal lineage across generations. Nuclear DNA (nuDNA) is the genetic information contained in the cell nucleus and is the equal combination of DNA from the parents of an individual.
Initially a skeptic, Ketchum implemented strict protocols to ensure the scientific integrity of the study. DNA was extracted from samples using forensic procedures followed by screening of the samples to rule out contamination. Subsequently, the Q30 quality scores for all three genomes sequenced using the Illumina HiSeq 2000 platform were well above the average Q30 score of 85, indicating that the DNA used in the next generation sequencing was highly purified and originated from a single source for each of the three genomes sequenced. Prior to DNA testing, forensics experts examined the morphology of submitted hair samples against known human and animal samples.
"We soon discovered that certain hair samples—which we would later identify as purported Sasquatch samples—had unique morphology distinguishing them from typical human and animal samples," says Ketchum. "Those hair samples that could not be identified as known animal or human were subsequently screened using DNA testing, beginning with sequencing of mitochondrial DNA followed by sequencing nuclear DNA to determine where these individuals fit in the 'tree of life.'"
After extensive forensic controls to prevent contamination, mtDNA testing of the Sasquatch samples yielded fully modern human profiles. Sixteen haplotypes indicating 100% homology with modern human mtDNA sequences were observed from 20 completed whole and 10 partial mitochondrial genomes. The human mtDNA results are consistent with previous, unrelated mtDNA tests of purported Sasquatch samples from other laboratories.
Next-generation whole genome sequencing with the HiSeq 2000 platform by Illumina was performed at the University of Texas, Southwestern on one tissue sample, a saliva sample and one blood sample to produce 3 whole genomes. In contrast to the mtDNA which was unambiguously modern human, the Sasquatch nuDNA results were a mosaic of novel primate and human sequence.
"While the three Sasquatch nuclear genomes aligned well with one another and showed significant homology to human chromosome 11, the Sasquatch genomes were novel and fell well outside of known ancient hominin as well as ape sequences," explains Ketchum. "Because some of the mtDNA haplogroups found in our Sasquatch samples originated as late as 13,000 years ago, we are hypothesizing that the Sasquatch are human hybrids, the result of males of an unknown hominin species crossing with female Homo sapiens."
Hominins are members of the taxonomic grouping Hominini, which includes all members of the genus Homo.
At the time of publication, study and analysis of the Sasquatch genomes is ongoing through the Sasquatch Genome Project (www.sasquatchgenomeproject.org). Further data will be presented as it becomes available. Dr. Ketchum is also launching the Global Sasquatch Foundation at www.melbaketchum.org, a research foundation dedicated to advancing public education and non-invasive study of the Sasquatch people, as well as the protection of their human rights.
Provided by DNA Diagnostics
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