Y-chromosome Haplotypes Research Articles

Tracing the origin of ‘blue Weimaraner’ dogs by molecular genetics

Weimaraner dogs are defined by light brown coat colour termed grey including several shadings ranging from silver and deer to mouse grey. In contrast, the so-called blue Weimaraners (BW) with lightened black-pigmented coat have been proposed to represent spontaneous revertants in the Weimaraner breed. In order to investigate the genetic determinants of the characteristic grey coat colour versus those of BW, known variation in coat colour genes including TYRP1 and MLPH were analysed in a number of grey and blue dogs. Variations at the B locus cause grey coat colour in Weimaraners via two non-functional TYRP1 copies (bb) including the b(s), b(d) and b(c) alleles. In all BW, at least one functional TYRP1 allele (Bb or BB genotype) was identified. Defined microsatellite alleles in TYRP1 intron 4 are linked to this functional B allele in BW. These alleles were also detected in various other dog breeds, but not in grey Weimaraners. The combination of a dominant trait for blue versus grey together with a specific TYRP1 haplotype in BW suggests that blue coat colour is not the result of spontaneous (back-) mutation in grey Weimaraners. This inference is even emphasized by the presence of a unique Y-chomosomal haplotype in a male offspring of the supposed ancestor of the BW population which - according to pedigree information - carries a copy of the original Y chromosome. Thus, molecular genetic analyses of coat colours combined with Y-chromosomal haplotypes allow tracing the origin of atypical dogs in respective canine populations.

Genetic Analysis of Six Communities of Mby�-Guaran� Inhabiting Northeastern Argentina by Means of Nuclear and Mitochondrial Polymorphic Markers

Autosomal STRs, Y-chromosome markers, and mitochondrial DNA sequences were investigated in six Mbyá-Guaraní villages (Fortín M'Bororé, Yryapu, Tabay, Kaaguy Poty, Jejy, and Yaboti), all of them settled within the province of Misiones, northeastern Argentina. One hundred twenty-one unrelated individuals were analyzed. The study involved typing fifteen autosomal STRs, nine Y-chromosome STRs, and four biallele loci in the nonrecombinant region of the Y chromosome, sequencing the mtDNA of hypervariable regions I and II, and detecting the 9-bp ins/del in region V of mtDNA. All autosomal STRs were in Hardy-Weinberg equilibrium. The four major native American mtDNA haplogroups were represented in the sample. Haplogroups A2 and D1 exhibited the highest frequencies (40.5% and 36.0%, respectively), and haplogroups B2 and C1 appeared to be less frequent (17.5% and 6.0%, respectively). The native American haplogroup Q1a3a was observed in a relevant proportion (88.8%). In addition, a nine-STR Y-chromosome haplotype (DYS19*13, DYS389I*14, DYS389II*31, DYS390*24, DYS391*11, DYS392*14, DYS393*11, DYS385A*14, DYS385B*16) exhibited a frequency of more than 36%. Our results indicate that the analyzed Argentinean Guaraní individuals are genetically more closely related to Guaraní from Brazil [genetic distance (Δμ)2 = 0.48] than to other related tribes that are geographically closer. Statistical approaches based on autosomal data do not support the hypothesis of genetic drift previously proposed; however, this apparent discrepancy might be due to the lack of sensitivity of the autosomal markers used here.

Population data for Y-chromosome haplotypes defined by 17 STRs in South-East Romania

Haplotypes and allele frequencies for 17 STR loci included in AmpF lSTR YFiler kit (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATAH4, DYS437, DYS438 and DYS448) were determined in a sample of 122 unrelated males living in the South-East Romania. Genetic distances had been calculated and dendrograms had been generated for South-East Romanian population and other eighteen surrounding populations.

Spatial assessment of Argentinean genetic admixture with geographical information systems

In recent years there has been much attention to Argentinean population stratification. We were interested in assessing population stratification from a geographical perspective and summarizing it in form of maps. We mapped the genetic admixture of the extant male population in central and northern Argentina on the basis of forensic Y-chromosomal haplotypes. We addressed the question which group of genetically similar individuals is predominant in this area. Haplotypes containing seven Y-chromosomal short tandem repeat polymorphisms (Y-STRs), also known as microsatellites – DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 – were constructed for 145 individuals, recruited in 10 provinces. 97 distinct haplotypes were clustered into four clusters according to molecular distances. A genetic geostatistical analysis was conducted with the open-source geographical information system GRASS GIS. For each haplotype cluster, the according frequency was spatially interpolated over the total study area. Juxtaposing the interpolation surfaces, we screened point-wisely the maximal frequency as well as the label of the respective cluster. The screening results were combined in one summary map. We repeated this procedure for the second maximal frequencies. The resulting maps subdivide the study area into continuous regions comprising one predominant group of similar haplotypes. The first summary map divides the study area into three regions and the second summary map divides the area into four regions. The results of our analysis indicate that two groups of similar European haplotypes alternatively dominate the largest extension of the Argentinean territory. A third group, including South-American haplotypes, dominates the indigenous northwestern Argentinean area. The last group, including worldwide dispersed haplotypes, preponderates in frequency in second place in central Argentina. Our findings confirm a widespread European paternal ancestry, a substantial Amerindian contribution in the northwest, as well as a considerable proportion of diverse paternal lineages. In this work, we further discuss these findings in reference to ethno-historical, genetic, and demographic information.

Population Genetic Analysis of Haplotypes Based on 17 Short Tandem Repeat Loci on Y Chromosome in Population Sample from Eastern Croatia

To investigate the population genetics of 17 short tandem repeat (STR) loci on the Y chromosome in the population of eastern Croatia. We carried out a statistical analysis of the data from previously performed genetic analysis collected during routine forensic work by the Forensic Science Centre "Ivan Vucetić". A total of 220 unrelated healthy men from eastern Croatia were selected for the purpose of this study. Genomic DNA was extracted by Chelex from FTA cards. Y-chromosomal STRs were determined using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined by direct counting and analyzed using Arlequin 3.1 and analysis of molecular variance calculated with the Y-chromosome haplotype reference database online analysis tool. A total of 207 haplotypes were recorded, 197 of which were unique (90%). Haplotype diversity was 0.9993, with the most frequent haplotype found in 4 of 220 men (1.8%). Average locus diversity was 0.600, and it ranged from 0.256 for DYS392 to 0.780 for DYS458. Our results were compared with the pattern of Y-chromosome variability in publicly available population samples based on a minimal European haplotype set of 9 STRs and the greatest resemblance was found with samples from the Croatian capital of Zagreb, from Bosnia and Herzegovina, and from Serbia. This is the first description of Y chromosome haplotyping of the population of eastern Croatia, which may serve as a basis for genetic epidemiology and forensic studies. Further studies are needed for characterization of the genetic structure of the Y-chromosome in the modern Croatian population.

The Most Ancient Democracy in the World is a Genetic Isolate: An Autosomal and Y-Chromosome Study of the Hermit Village of Malana (Himachal Pradesh, India)

Malana, a small village in Kullu District of Himachal Pradesh, India, has historically been considered a hermit village. Today it has a census size of 1,101 individuals. Geographic, linguistic, and population barriers have contributed to its seclusion. Little is known about the extent to which the population genetically differentiated during the years of isolation. To address this issue, we genotyped 48 Malani individuals at 15 highly polymorphic autosomal STR loci. We found that Malanis have lost some genetic variability compared with the present-day cosmopolitan caste populations and highly mobile pastoral cultures of India. But there is no evidence that they have gone through a severe bottleneck; the average population still shows a mean of 6.86 alleles per locus compared to a mean of 7.80-8.93 for nonisolated populations. An analysis of molecular variance (AMOVA) differentiates Malanis from the rest of the comparison populations. The population structure revealed by multidimensional scaling analysis of standard genetic distances lends support to the AMOVA. Our results are consistent with the social heterogeneity of the Malanis. We also analyzed 17 Y-chromosome STRs in 30 individuals to assess the paternal gene pool. The Malanis are characterized by a generally low Y-chromosome haplotype diversity. A network analysis indicates that two closely related haplotypes account for a large proportion of Malani Y chromosomes. We predicted Y-chromosome haplogroups and found that J2 and R1a were the most prevalent. Genetic drift and limited gene flow leading to reduced genetic diversity were important in determining the present genetic structure of the highly endogamous Malana village.

The Most Ancient Democracy in the World Is a Genetic Isolate: An Autosomal and Y-Chromosome Study of the Hermit Village of Malana (Himachal Pradesh, India)

Malana, a small village in Kullu District of Himachal Pradesh, India, has historically been considered a hermit village. Today it has a census size of 1,101 individuals. Geographic, linguistic, and population barriers have contributed to its seclusion. Little is known about the extent to which the population genetically differentiated during the years of isolation. To address this issue, we genotyped 48 Malani individuals at 15 highly polymorphic autosomal STR loci. We found that Malanis have lost some genetic variability compared with the present-day cosmopolitan caste populations and highly mobile pastoral cultures of India. But there is no evidence that they have gone through a severe bottleneck; the average population still shows a mean of 6.86 alleles per locus compared to a mean of 7.80-8.93 for nonisolated populations. An analysis of molecular variance (AMOVA) differentiates Malanis from the rest of the comparison populations. The population structure revealed by multidimensional scaling analysis of standard genetic distances lends support to the AMOVA. Our results are consistent with the social heterogeneity of the Malanis. We also analyzed 17 Y-chromosome STRs in 30 individuals to assess the paternal gene pool. The Malanis are characterized by a generally low Y-chromosome haplotype diversity. A network analysis indicates that two closely related haplotypes account for a large proportion of Malani Y chromosomes. We predicted Y-chromosome haplogroups and found that J2 and R1a were the most prevalent. Genetic drift and limited gene flow leading to reduced genetic diversity were important in determining the present genetic structure of the highly endogamous Malana village.

Molecular genetic identification of skeletal remains from the Second World War Konfin I mass grave in Slovenia

This paper describes molecular genetic identification of one third of the skeletal remains of 88 victims of postwar (June 1945) killings found in the Konfin I mass grave in Slovenia. Living relatives were traced for 36 victims. We analyzed 84 right femurs and compared their genetic profiles to the genetic material of living relatives. We cleaned the bones, removed surface contamination, and ground the bones into powder. Prior to DNA isolation using Biorobot EZ1 (Qiagen), the powder was decalcified. The nuclear DNA of the samples was quantified using the real-time polymerase chain reaction method. We extracted 0.8 to 100 ng DNA/g of bone powder from 82 bones. Autosomal genetic profiles and Y-chromosome haplotypes were obtained from 98% of the bones, and mitochondrial DNA (mtDNA) haplotypes from 95% of the bones for the HVI region and from 98% of the bones for the HVII region. Genetic profiles of the nuclear and mtDNA were determined for reference persons. For traceability in the event of contamination, we created an elimination database including genetic profiles of the nuclear and mtDNA of all persons that had been in contact with the skeletal remains. When comparing genetic profiles, we matched 28 of the 84 bones analyzed with living relatives (brothers, sisters, sons, daughters, nephews, or cousins). The statistical analyses showed a high confidence of correct identification for all 28 victims in the Konfin I mass grave (posterior probability ranged from 99.9% to more than 99.999999%).

Seventeen Y-chromosomal short tandem repeat haplotypes in seven groups of population living in Taiwan

The analysis of Y-chromosome short tandem repeat (Y-STR) loci is a powerful tool in forensic casework. The aim of this study was to present the 17 Y-STR loci haplotype distributions of groups of population living in Taiwan and to demonstrate genetic distances between the groups as well as multidimensional scaling plot based on Y-STR genotype data. Five hundred and fifteen DNA samples from unrelated males of seven groups of population, including Taiwanese Han, two groups of indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, and a group of people with European, Near Eastern, or South Asian ancestry, were analyzed using a commercial kit that co-amplifies 17 Y-STRs. A total of 471 different haplotypes with 440 unique haplotypes were identified. The overall haplotype diversity was 0.9995 +/- 0.0002. High haplotype diversity was observed in six groups of population, except the Tao. These Y-STRs revealed a low discrimination capacity in the Tao population (36.84%), which should be considered in forensic practice. The multidimensional scaling plot of these seven groups of population constructed based on the genetic distances according to 17 Y-STR loci presented a clear patrilineal genetic substructure in the area. Partial Y-STRs profiling reduced the discrimination capacity in most groups of population and distorted the multidimensional scaling plot.

Evaluation of 14 Y-chromosomal Short Tandem Repeat Haplotype with Focus on DYS449, DYS456, and DYS458: Czech Population Sample

To evaluate the novel triplex polymerase chain reaction (PCR) assay for the analysis of polymorphic Y-chromosomal short tandem repeat loci (Y-STR). A total of 14 Y-STR loci was analyzed. Allele frequencies for 3 tetrameric Y-STR loci (DYS449, DYS456, and DYS458) and extended haplotype loci typed by Y-PLEXTM 12 system were investigated in a sample of 50 unrelated healthy Czech male donors. We computed the relevant intra-population statistic parameters for our data (gene diversity, average gene diversity over loci, and mean number of pairwise differences) and compared our sample set with other Central European populations using RST pairwise genetic distance. We focused on the comparison of genetic diversity between the Y-STR extended haplotype loci and that of the 3 additional loci, and on the benefit of using DYS449, DYS456, and DYS458 in forensic and population genetics applications. Total gene diversity in our sample set was 0.998367 when using all 14 loci. Our data analysis revealed very high genetic diversity at DYS449 locus (0.876735), which surpasses even the diversity at DYS385a/b (0.819592). Population comparison showed no difference between Czech, Bavarian, Austrian, and Saxon sample set. A minor difference was found between Czech and Polish sample set. Typing of 3 Y-chromosomal microsatellite polymorphisms may provide a useful complement to already established sets of Y-STRs.

Genetic analysis of 17 Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic minority group

We have co-amplified and analyzed 17 Y-chromosomal STRs loci (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635, YGATA-H4 and DYS385a/b) in 132 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic group residing in Lassa area of China. The gene diversity values for the Y-STRs loci ranged from a minimum 0.206 for DYS391 locus to a maximum of 0.912 for DYS385a/b locus in the populations. A total of 123 haplotypes were identified, among which 115 were unique and 8 occurred more than once. The overall haplotype diversity for 17 Y-STRs loci was 0.998. Research results will be valuable for forensic use in the regions and for Chinese population genetic study.

Fundamental problem of forensic mathematics—The evidential value of a rare haplotype

Y-chromosomal and mitochondrial haplotyping offer special advantages for criminal (and other) identification. For different reasons, each of them is sometimes detectable in a crime stain for which autosomal typing fails. But they also present special problems, including a fundamental mathematical one: When a rare haplotype is shared between suspect and crime scene, how strong is the evidence linking the two? Assume a reference population sample is available which contains n − 1 haplotypes. The most interesting situation as well as the most common one is that the crime scene haplotype was never observed in the population sample. The traditional tools of product rule and sample frequency are not useful when there are no components to multiply and the sample frequency is zero. A useful statistic is the fraction κ of the population sample that consists of “singletons” – of once-observed types. A simple argument shows that the probability for a random innocent suspect to match a previously unobserved crime scene type is (1 − κ)/ n – distinctly less than 1/ n, likely ten times less. The robust validity of this model is confirmed by testing it against a range of population models. This paper hinges above all on one key insight: probability is not frequency. The common but erroneous “frequency” approach adopts population frequency as a surrogate for matching probability and attempts the intractable problem of guessing how many instances exist of the specific haplotype at a certain crime. Probability, by contrast, depends by definition only on the available data. Hence if different haplotypes but with the same data occur in two different crimes, although the frequencies are different (and are hopelessly elusive), the matching probabilities are the same, and are not hard to find.

Haplotype analysis of 8 Y-STR loci in the Antalya population

The haploid and non-recombining nature of most Y-chromosomal short tandem repeats (Y-STRs) and their relative simplicity make them useful tools for male identification purposes in forensic investigations. STR polymorphisms on the non-recombining part of the Y-chromosome are inherited in the form of compound Y-haplotypes and it is known that they are strongly population specific. To contribute to regional database, we have analysed the Y- chromosome specific STR (Y-STR) loci including DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS 385 in a group of Turkish males from Antalya, Turkish Republic. Unrelated healthy 210 males who have been living in this region for at least three generations and who were involved in legal proceedings concerning paternity or identity were included in the study. PCR analysis was performed on genomic DNA obtained from peripheral blood samples. PowerPlex Y kit was used according to the manufacturer's recommendations for the amplification and typing procedures. Capillary electrophoresis was carried out on an ABI Prism 310 Genetic Analyzer. We determined a total of 177 haplotypes and 151 of them were observed only once. Twenty six haplotypes identified in more than one male, 21 of them were shared by two different individuals, three by 3 individuals and 2 by four individuals. The most common haplotypes, 14/12/28/23/10/11/12/13- 18 and 15/13/29/24/10/11/14/13- 14 repeated four times, with a frequency of 1.9%. The determined haplotypes of this study were compared with the datas in the Y-chromosomal STR Haplotype Reference Database (YHRD) and also with some available studies from pubmed results for Turks.

Rainfall-driven sex-ratio genes in African buffalo suggested by correlations between Y-chromosomal haplotype frequencies and foetal sex ratio

BackgroundThe Y-chromosomal diversity in the African buffalo (Syncerus caffer) population of Kruger National Park (KNP) is characterized by rainfall-driven haplotype frequency shifts between year cohorts. Stable Y-chromosomal polymorphism is difficult to reconcile with haplotype frequency variations without assuming frequency-dependent selection or specific interactions in the population dynamics of X- and Y-chromosomal genes, since otherwise the fittest haplotype would inevitably sweep to fixation. Stable Y-chromosomal polymorphism due one of these factors only seems possible when there are Y-chromosomal distorters of an equal sex ratio, which act by negatively affecting X-gametes, or Y-chromosomal suppressors of a female-biased sex ratio. These sex-ratio (SR) genes modify (suppress) gamete transmission in their own favour at a fitness cost, allowing for stable polymorphism.ResultsHere we show temporal correlations between Y-chromosomal haplotype frequencies and foetal sex ratios in the KNP buffalo population, suggesting SR genes. Frequencies varied by a factor of five; too high to be alternatively explained by Y-chromosomal effects on pregnancy loss. Sex ratios were male-biased during wet and female-biased during dry periods (male proportion: 0.47-0.53), seasonally and annually. Both wet and dry periods were associated with a specific haplotype indicating a SR distorter and SR suppressor, respectively.ConclusionsThe distinctive properties suggested for explaining Y-chromosomal polymorphism in African buffalo may not be restricted to this species alone. SR genes may play a broader and largely overlooked role in mammalian sex-ratio variation.

A case of chimerism in a paternity study

The STR profile of a phenotipically normal woman typed from blood tissue in a paternity case, revealed more than two alleles in some autosomal loci, result that was interpreted as a chimera due to the coexistence of two genetically distinct cell populations. The aim of this work was to solve the paternity study, elucidate the origin of the chimera, and evaluate its consequence in forensic genetics. Buccal epithelium and hair root tissues showed a single autosomal STR profile. Instead, blood tissue exhibited chimerism in seven out of the twenty autosomal loci tested. The paternity analysis was resolved comparing the unique STR pattern typed from buccal and hair root cells. The detection in blood tissue of the Y allele in Amelogenin locus and typing of a Y-chromosome haplotype confirmed the presence of male cells in the chimeric woman. The deduced male profile cannot be excluded as a son of the alleged father. Based on the results we interpret that the woman subject of the study is a partial or a whole-body chimera. Chimerism may be a pitfall in forensic investigations like paternity testing and crime cases.

Update of an on-line autosomal STR and Y-STR reference database of Argentina

Allele frequency data of genetic markers employed in paternity testing and forensic casework is essential for the statistical analysis of the results obtained by these molecular markers. In 2004, our group developed and launched a free on-line reference database including autosomal STRs allele and Y-STR haplotype frequencies for 10 Argentinean provinces ( http://www.ffyb.uba.ar/marcadores/antecedentes.asp). The dataset included 2710 individuals typed by means of 13 autosomal STRs and 239 individuals with the minimal Y-STRs haplotype (YHRD). In order to further improve the available information on-line, the database was increased for both autosomal and Y-STR markers. A total of 6501 genotypes from unrelated donors were added to the previous database. These samples were obtained from Buenos Aires, Chubut, Rio Negro, Santa Fe, Mendoza, Misiones, Corrientes, Chaco, Formosa and Salta, and typed at least with 13 autosomal STRs and 1336 unrelated males were also typed for Y-STRs. In parallel, protocols for DNA analysis and reference bibliography were updated. The present update attained a total of 9211 genotypes and 1575 Y-chromosome haplotypes from the Argentinean population. This contribution offers on-line statistical information about highly standardized genetic markers to the forensic and molecular anthropology research communities.

Y-chromosome haplotype database in Venezuelan central region and its comparison with other Venezuelan populations

One hundred and fifteen unrelated male individuals were sampled and Y-STR genotypes were determined using the PowerPlexY-System (Promega Corp.) and the ABIPRISM 3130 Genetic Analyzer. Allele frequencies and gene diversity for each of the 11 markers analyzed are shown. One hundred and seven different haplotypes were found. Five of them were present in more than one individual, and 101 were not previously found in Caracas and Maracaibo populations [1]. When genetic distance between Central Region and Caracas was estimated, non-significant difference was found. Likewise, differences were not found in markers either. However, when Central Region and Maracaibo were compared, significant differences were found in both genetic distance and DYS385 and DYS438 allele distributions.

Reduced-volume and low-volume typing of Y-chromosomal SNPs to obtain Finnish Y-chromosomal compound haplotypes

Single-nucleotide extension is a widespread method for typing Y-chromosomal single-nucleotide polymorphisms. In our study, we validated a multiplex minisequencing assay in a reduced-volume and in a low-volume approach. A four-plex assay was performed in a 6-microL multiplex reaction in 96-well microtiter reaction plates, which can be directly used for capillary electrophoresis. In a second approach, a six-plex assay was performed on a chemically structured glass slide. Both techniques have proven to be highly sensitive as well as time- and cost-saving, which makes them a valuable option not only for forensic purposes but also for population genetic studies where large sample numbers have to be analyzed. In the present paper, both techniques are compared and applied to analyze a population sample from the area of Turku, Finland. The most common haplogroup was found to be N1c*, which is nearly absent in western and central European populations. Additionally, 11 short tandem repeat markers were analyzed to further discriminate Y-chromosomal lineages.

Comparative characteristics of the gene pool of Teleuts inferred from Y-chromosomal marker data

The gene pool structure of Teleuts was examined and Y-chromosomal haplogroups composition and frequencies were determined. In the gene pool of Teleuts, five haplogroups, C3xM77, N3a, R1b*, R1b3, and R1a1, were identified. Evaluation of the genetic differentiation of the samples examined using analysis of molecular variance (AMOVA) with two marker systems (frequencies of haplogroups and Y-chromosomal microsatellite haplotypes) showed that Bachat Teleuts were equally distant from Southern and Northern Altaians. In Siberian populations, the frequencies and molecular phylogeny of the YSTR haplotypes within Y-chromosomal haplogroup R1a1 were examined. It was demonstrated that Teleuts and Southern Altaians had very close and overlapping profiles of R1a1 haplotypes. Population cluster analysis of the R1a1 YSTR haplotypes showed that Teleuts and Southern Altaians were closer to one another than to all remaining Siberian ethnic groups. Phylogenetic analysis of N3a haplotypes suggested specificity of Teleut haplotypes and their closeness to those of Tomsk Tatars. Teleuts were characterized by extremely high frequency of haplogroup R1b*, distinguished for highly specific profile of YSTR haplotypes and high haplotype diversity. The results of the comparative analysis suggested that the gene pool of Bachat Teleuts was formed on the basis of at least two heterogeneous genetic components, probably associated with ancient Turkic and Samoyedic ethnic components.

Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus

We report the results of mitochondrial and nuclear DNA analyses of skeletal remains exhumed in 2005 at Frombork Cathedral in Poland, that are thought to be those of Nicolaus Copernicus (1473-1543). The analyzed bone remains were found close to the altar Nicolaus Copernicus was responsible for during his tenure as priest. The mitochondrial DNA (mtDNA) profiles from 3 upper molars and the femurs were identical, suggesting that the remains originate from the same individual. Identical mtDNA profiles were also determined in 2 hairs discovered in a calendar now exhibited at Museum Gustavianum in Uppsala, Sweden. This calendar was the property of Nicolaus Copernicus for much of his life. These findings, together with anthropological data, support the identification of the human remains found in Frombork Cathedral as those of Nicolaus Copernicus. Up-to-now the particular mtDNA haplotype has been observed only 3 times in Germany and once in Denmark. Moreover, Y-chromosomal and autosomal short tandem repeat markers were analyzed in one of the tooth samples, that was much better preserved than other parts of the skeleton. Molecular sex determination revealed that the skeleton is from a male individual, and this result is consistent with morphological investigations. The minimal Y-chromosomal haplotype determined in the putative remains of Nicolaus Copernicus has been observed previously in many countries, including Austria, Germany, Poland, and the Czech Republic. Finally, an analysis of the SNP located in the HERC2 gene revealed the C/C genotype that is predominant in blue-eyed humans, suggesting that Copernicus may have had a light iris color.