Mitochondrial DNA Diversity in the Polish Roma

Nicolaus Copernicus University, Toruń, Kujawsko-Pomorskie, Poland
Annals of Human Genetics (Impact Factor: 2.21). 04/2006; 70(Pt 2):195-206. DOI: 10.1111/j.1529-8817.2005.00222.x
Source: PubMed


Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondrial haplogroups (H, U3, K, J1, X, I, W, and M*). The results of complete mtDNA sequencing clearly indicate that the Romani M*-lineage belongs to the Indian-specific haplogroup M5, which is characterized by three transitions in the coding region, at sites 12477, 3921 and 709. Molecular variance analysis inferred from mtDNA data reveals that genetic distances between the Roma groups are considerably larger than those between the surrounding European populations. Also, there are significant differences between the Bulgarian Roma (Balkan and Vlax groups) and West European Roma (Polish, Lithuanian and Spanish groups). Comparative analysis of mtDNA haplotypes in the Roma populations shows that different haplotypes appear to demonstrate impressive founder effects: M5 and H (16261-16304) in all Romani groups; U3, I and J1 in some Romani groups. Interestingly, haplogroup K (with HVS I motif 16224-16234-16311) found in the Polish Roma sample seems to be specific for Ashkenazi Jewish populations.

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    • "This includes the root of M5a1b1 and the root of its nested sub-branch M5a1b1a (both appear to originate in India, as suggested by the presence of two Indian genomes). On the contrary, the Romani M5a1b1a1 has been found in Europe only: one Russian (GenBank code: EF583176), one Polish (#PL173, [12]), one individual of unknown origin (JQ705991), and nine Spanish Romani (Figure 2). Therefore, from the phylogeographic characteristics of the mitogenomes alone, it is not clear if M5a1b1a1 arose originally in India or in some place on the way to Europe, although it appears that all its immediate ancestors and in general haplogroup M5 are from India. "
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    ABSTRACT: In agreement with historical documentation, several genetic studies have revealed ancestral links between the European Romani and India. The entire mitochondrial DNA (mtDNA) of 27 Spanish Romani was sequenced in order to shed further light on the origins of this population. The data were analyzed together with a large published dataset (mainly hypervariable region I [HVS-I] haplotypes) of Romani (N = 1,353) and non-Romani worldwide populations (N>150,000). Analysis of mitogenomes allowed the characterization of various Romani-specific clades. M5a1b1a1 is the most distinctive European Romani haplogroup; it is present in all Romani groups at variable frequencies (with only sporadic findings in non-Romani) and represents 18% of their mtDNA pool. Its phylogeographic features indicate that M5a1b1a1 originated 1.5 thousand years ago (kya; 95% CI: 1.3-1.8) in a proto-Romani population living in Northwest India. U3 represents the most characteristic Romani haplogroup of European/Near Eastern origin (12.4%); it appears at dissimilar frequencies across the continent (Iberia: ∼31%; Eastern/Central Europe: ∼13%). All U3 mitogenomes of our Iberian Romani sample fall within a new sub-clade, U3b1c, which can be dated to 0.5 kya (95% CI: 0.3-0.7); therefore, signaling a lower bound for the founder event that followed admixture in Europe/Near East. Other minor European/Near Eastern haplogroups (e.g. H24, H88a) were also assimilated into the Romani by introgression with neighboring populations during their diaspora into Europe; yet some show a differentiation from the phylogenetically closest non-Romani counterpart. The phylogeny of Romani mitogenomes shows clear signatures of low effective population sizes and founder effects. Overall, these results are in good agreement with historical documentation, suggesting that cultural identity and relative isolation have allowed the Romani to preserve a distinctive mtDNA heritage, with some features linking them unequivocally to their ancestral Indian homeland.
    Full-text · Article · Oct 2013 · PLoS ONE
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    • "In addition, groups of more or less recent immigrants often carry a mixture of 'native' lineages and lineages typical from the area to which they moved. For example, Polish Roma, having an ultimate origin in India, harbour both Southern Asian and Western Eurasian mtDNA variants [35]. Finally, rare cases have been reported where European individuals carried African mtDNA haplogroups without being aware of any African ancestry [36]. "
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    ABSTRACT: In recent years, phylogeographic studies have produced detailed knowledge on the worldwide distribution of mitochondrial DNA (mtDNA) variants, linking specific clades of the mtDNA phylogeny with certain geographic areas. However, a multiplex genotyping system for the detection of the mtDNA haplogroups of major continental distribution that would be desirable for efficient DNA-based bio-geographic ancestry testing in various applications is still missing. Three multiplex genotyping assays, based on single-base primer extension technology, were developed targeting a total of 36 coding-region mtDNA variants that together differentiate 43 matrilineal haplo-/paragroups. These include the major diagnostic haplogroups for Africa, Western Eurasia, Eastern Eurasia and Native America. The assays show high sensitivity with respect to the amount of template DNA: successful amplification could still be obtained when using as little as 4 pg of genomic DNA and the technology is suitable for medium-throughput analyses. We introduce an efficient and sensitive multiplex genotyping system for bio-geographic ancestry inference from mtDNA that provides resolution on the continental level. The method can be applied in forensics, to aid tracing unknown suspects, as well as in population studies, genealogy and personal ancestry testing. For more complete inferences of overall bio-geographic ancestry from DNA, the mtDNA system provided here can be combined with multiplex systems for suitable autosomal and, in the case of males, Y-chromosomal ancestry-sensitive DNA markers.
    Full-text · Article · Mar 2011 · Investigative Genetics
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    • "[19]) N o ? [3] 3407 G→A ND1 [4] No M5a [3] 11365 T→C ND4 [20]; [21]; [4]; [22] Yes (D5;N) A2b; D5a2; M5a; N22 [3] 12477 T→C ND5 [23]; [24]; [9]; [20]; [14] (3); [25]; [26]; [7] (6); [4]; [27]; [28]; [29]; [30] "
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    ABSTRACT: MITOMAP is by far the most frequently cited Web resource that is referred to in substantiating novelty of an mtDNA mutation. This database, as is now known, has quite an incomplete coverage of the mtDNA mutations from the literature. This circumstance has seduced many scholars of medical genetics in the past to claim novelty of rather 'worn-out' mtDNA mutations. What is, however, really novel in the field is that researchers take advantage of this situation and deliberately suppress information from other sources, as it appears to have occurred in two recently published cases of hypertrophic cardiomyopathy.
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