title: A preliminary analysis of the DNA and diet of the extinct Beothuk: a systematic approach to ancient human DNA.
abstract: We have used a systematic protocol for extracting, quantitating, sexing and validating ancient human mitochondrial and nuclear DNA of one male and one female Beothuk, a Native American population from Newfoundland, which became extinct approximately 180 years ago. They carried mtDNA haplotypes, which fall within haplogroups X and C, consistent with Northeastern Native populations today. In addition we have sexed the male using a novel-sexing assay and confirmed the authenticity of his Y chromosome with the presence of the Native American specific Y-QM3 single nucleotide polymorphism (SNP). This is the first ancient nuclear SNP typed from a Native population in the Americas. In addition, using the same teeth we conducted a stable isotopes analysis of collagen and dentine to show that both individuals relied on marine sources (fresh and salt water fish, seals) with no hierarchy seen between them, and that their water sources were pooled or stored water. Both mtDNA sequence data and Y SNP data hint at possible gene flow or a common ancestral population for both the Beothuk and the current day Mikmaq, but more importantly the data do not lend credence to the proposed idea that the Beothuk (specifically, Nonosabasut) were of admixed (European-Native American) descent. We also analyzed patterns of DNA damage in the clones of authentic mtDNA sequences; there is no tendency for DNA damage to occur preferentially at previously defined mutational hotspots, suggesting that such mutational hotspots are not hypervariable because they are more prone to damage.
authors.affiliation: McMaster Ancient DNA Center, McMaster University, Hamilton, ON L8S 4L9, Canada.
authors.forename: Melanie
authors.initials: M
authors.lastname: Kuch
authors.forename: Darren R
authors.initials: DR
authors.lastname: Gröcke
authors.forename: Martin C
authors.initials: MC
authors.lastname: Knyf
authors.forename: M Thomas P
authors.initials: MT
authors.lastname: Gilbert
authors.forename: Ban
authors.initials: B
authors.lastname: Younghusband
authors.forename: Terry
authors.initials: T
authors.lastname: Young
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Marshall
authors.forename: Eske
authors.initials: E
authors.lastname: Willerslev
authors.forename: Mark
authors.initials: M
authors.lastname: Stoneking
authors.forename: Hendrik
authors.initials: H
authors.lastname: Poinar
mesh_terms: D001483:Base Sequence; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003094:Collagen / Q000737:chemistry; D004249:DNA Damage / Q000235:genetics; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D003804:Dentin / Q000737:chemistry; D004032:Diet; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D007553:Isotope Labeling; D008297:Male; D008969:Molecular Sequence Data; D009523:Newfoundland and Labrador; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA; D012732:Sex Determination Analysis / Q000379:methods
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial; D003094:Collagen