Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II

  title={Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II},
  author={Pavel L. Ivanov and Mark J. Wadhams and Rhonda K. Roby and Mitchell M. Holland and Victor W. Weedn and Thomas J. Parsons},
  journal={Nature Genetics},
In 1991, nine sets of skeletal remains were excavated from a mass grave near Yekaterinburg, Russia which were believed to include the Russian Tsar Nicholas II, the Tsarina Alexandra, and three of their daughters1. Nuclear DNA testing of the remains verified such a family group, and mito-chondrial DNA (mtDNA) sequences of the presumed Tsarina matched a known maternal relative, Prince Philip2. mtDNA sequences from bone of the presumed Tsar matched two living maternal relatives except at a single… 
The execution of the Romanov family at Yekatarinberg
  • R. Byard
  • Medicine, History
    Forensic Science, Medicine and Pathology
  • 2020
There appears little doubt that the skeletal remains in the two graves outside Yekaterinburg are those of Tsar Nicholas, his wife and their five children, and the genetic analyses and the features of the fragmented remains are all very consistent with the tragic story of the last days of the Romanov family and with the subsequent desecration and destruction of their bodies.
Mitochondrial DNA analysis of the presumptive remains of Jesse James.
The mtDNA analysis supports the identification of the exhumed remains from Mt. Olivet Cemetery as those of Jesse James, and searches the forensic mtDNA database found that this sequence does not appear among the 2426 mtDNA sequences therein.
Analysis of Heteroplasmy in Hypervariable Region II of Mitochondrial DNA in Maternally Related Individuals
It is demonstrated that heteroplasmy is a common occurrence in tissue from normal individuals and should be taken into account in forensic investigation when samples appear to differ at a single nucleotide position by direct sequencing.
Genomic identification in the historical case of the Nicholas II royal family
It is demonstrated that convergent analysis of complete mitochondrial genome sequences combined with nuclear DNA profiles is an efficient and conclusive method for individual and kinship identification of specimens obtained from old historic relics.
Critique of interpretation of high levels of heteroplasmy in the human mitochondrial DNA hypervariable region I from hair.
The results observed in the heteroplasmy in hair study do not apply to other methods of mtDNA analysis and cannot be used to question the reliability of the current forensic mtDNA practices.
Molecular genetic analysis of 400-year-old human remains found in two Yakut burial sites.
Comparison of STR profiles, mitochondrial haplotypes, and haplogroups with data from Eurasian populations indicated affinities with Asian populations and suggested a relative specificity and continuity of part of the Yakut mitochondrial gene pool during the last five centuries.
Recognition of the remains of Tsar Nicholas II and his family: a case of premature identification?
The investigation should be regarded as inconclusive because crucially important historical information was not taken into account either in formulating alternative scenarios or when calculating the corresponding odds and match probabilities.
Mitochondrial heteroplasmy among maternally related individuals
A common bottleneck size in all individuals from this lineage seems to be very unlikely, consistent with both slow and rapid segregation of mtDNAs between the generations, which would implicate a tight as well as a wide bottleneck.
Genetic analysis of human remains from a double inhumation in a frozen kurgan in Kazakhstan (Berel site, Early 3rd Century BC)
A genetic study based on STRs and mitochondrial DNA analyses was undertaken in order to determine whether these human remains belonged to close relatives, but analysis of mitochondrial DNA showed that these skeletons were not close relatives.


Identification of the remains of the Romanov family by DNA analysis
The DNA evidence supports the hypothesis that the remains of the last Tsar, Tsarina, three of their five children, the Royal Physician and three servants are those of the Romanov family.
Mitochondrial DNA heteroplasmy in Drosophila mauritiana.
Among metazoan animals, this D. mauritiana strain offers an exceptional situation with regard to the number of individuals heterogeneous for mtDNA and the relative stability of heteroplasmy through generations.
Length heteroplasmy in the first hypervariable segment of the human mtDNA control region.
A rapid method involving densitometry of sequencing gels to quantify the relative proportions of different length variants present in an individual is developed and used to study the proportions of length variants in individuals from three twin pairs and two maternal lineages.
Replacement of bovine mitochondrial DNA by a sequence variant within one generation.
Thirteen instances were detected of mother-daughter pairs in which leukocytes of each of the two animals seemingly were homoplasmic for a different allele at nucleotide 364, demonstrating the bovine mitochondrial genome can be replaced completely by a nucleotide sequence variant within a single generation.
New approaches to dating suggest a recent age for the human mtDNA ancestor.
Two approaches for deriving an intraspecific calibration of the rate of human mtDNA sequence evolution that allow standard errors to be readily calculated are presented.
DNA extraction from Pleistocene bones by a silica-based purification method.
The following method, which is a modification of a protocol published by Boom et a/.
Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.
Among families with Leber hereditary optic neuroretinopathy, a maternal lineage is found with individuals heteroplasmic for a single nucleotide change, and the results show that rapid segregation can occur but also that the level of heteroplasmy can be maintained from one generation to another.
Nucleotide sequence preservation of human mitochondrial DNA.
  • R. Monnat, L. Loeb
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 1985
A high degree of mitochondrial nucleotide sequence homogeneity in human somatic cells is in marked contrast to the rapid evolutionary divergence of human mitochondrial DNA and suggests the existence of mechanisms for the concerted preservation of mammalian mitochondrial DNA sequences in single organisms.
Heteroplasmy in the control region of human mitochondrial DNA.
The sequencing of a 360-nucleotide segment of the mt DNA control region in a population survey revealed the presence of one individual having heteroplasmy in positions 16,293 (A and G) and 16,311 (C
Unequal partitioning of bovine mitochondrial genotypes among siblings.
A model involving unequal partitioning of the two amplified mitochondrial DNA species during the early cell divisions of the embryo can explain the appearance of such variation in heteroplasmic sibling animals and provides a basis for understanding the rapid DNA sequence variation observed in vertebrate mitochondrial DNA despite its high copy number and strict maternal inheritance.