Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases

Davidović, Slobodan; Malyarchuk, B. A.; Grzybowski, Tomasz; Aleksić, J.; Derenko, Miroslava; Литвинов, А. Н.; Rogalla-Ładniak, Urszula; Stevanović, Milena; Kovacevic-Grujicic, Natasa

doi:10.1007/s00414-020-02324-x

Cited by 8 publications

(5 citation statements)

References 73 publications

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“…In order to shed new light on the ancestral branch of the N1a 16147G variant and to clarify its spread across the Old World, we reconstructed the tree of the N1a 16147G variant using 32 published [ 10 , 11 , 13 , 19 , 41 , 42 , 43 , 44 , 45 , 46 , 47 ] and 11 new complete sequences ( Figure 1 , Supplementary Table S3 ). In order to reconstruct an unbiased phylogeny of the so-called “African/South Asian branch”, we chose sequencing samples from various regions in Africa, Middle and Near East, as well as from Europe.…”

Section: Resultsmentioning

confidence: 99%

“…Three Near Eastern samples were joined in a separate cluster marked by transitions at positions 8452 and 16344, with an age estimate of 8514 years (4452–13,011). The second cluster marked by a 4721 transition encompassed eight different complete sequences from various European regions—four samples of Russian, Greek, and Serbian origin [ 10 , 11 , 49 ], joined with four new sequences from different parts of the Croatian territory. One sample originated from the continental mountainous part of Croatia, while three others were from the Adriatic islands of Cres and Pag.…”

Section: Resultsmentioning

confidence: 99%

“…Its estimated age was 8569 years (5014-12,623). The other part of this cluster, encompassing the vast majority of the published samples and showing a deep diversity mostly within North and East Africa, the Arabian Peninsula, and the Near East, was characterized by the mutation 2758 (N1a1a3), and it is also the oldest part of this branch, with an estimated age of 14,904 years (11,975) [13,48]. Several distinct groups were visible within this cluster.…”

Section: Reconstruction Of the Maximum Parsimony Phylogenetic Tree Of...mentioning

confidence: 86%

“…The currently available forensic mtDNA database is the EMPOP database, specifically developed for forensic applications, and comprising around 48,500 quality controlled mitotypes (URL: https://empop.online/, accessed on 28 June 2023). However, the number of complete mitogenomes in EMPOP (around 4000) is still insufficient and lacks contributions from Croatia [11,12]. In the initial attempt to expand the current Croatian forensic database and achieve a fully representative database of the Croatian territory, we randomly selected samples belonging to rare mtDNA haplogroups (<5% in the general European population), mostly from island and mountainous populations, to be sequenced on the Illumina platform.…”

Section: Introductionmentioning

confidence: 99%

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Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates

Auguštin

Šarac

Reidla

et al. 2023

Genes

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Mitochondrial DNA (mtDNA) has been used for decades as a predominant tool in population genetics and as a valuable addition to forensic genetic research, owing to its unique maternal inheritance pattern that enables the tracing of individuals along the maternal lineage across numerous generations. The dynamic interplay between evolutionary forces, primarily genetic drift, bottlenecks, and the founder effect, can exert significant influence on genetic profiles. Consequently, the Adriatic islands have accumulated a subset of lineages that exhibits remarkable absence or rarity within other European populations. This distinctive genetic composition underscores the islands’ potential as a significant resource in phylogenetic research, with implications reaching beyond regional boundaries to contribute to a global understanding. In the initial attempt to expand the mitochondrial forensic database of the Croatian population with haplotypes from small isolated communities, we sequenced mitogenomes of rare haplogroups from different Croatian island and mainland populations using next-generation sequencing (NGS). In the next step and based on the obtained results, we refined the global phylogeny of haplogroup N1a, HV2, and X by analyzing rare haplotypes, which are absent from the current phylogenetic tree. The trees were based on 16 novel and 52 previously published samples, revealing completely novel branches in the X and HV2 haplogroups and a new European cluster in the ancestral N1a variant, previously believed to be an exclusively African–Asian haplogroup. The research emphasizes the importance of investigating geographically isolated populations and their unique characteristics within a global context.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Reconstruction Of the Maximum Parsimony Phylogenetic Tree Of...mentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates

Auguštin

Šarac

Reidla

et al. 2023

Genes

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“…So far, there are several studies regarding the genetic profile and diversity of mtDNA in the Serbian population [ 58 , 59 , 60 ]. Our study determined the association of those specific mitochondrial genetic backgrounds to LHON pathogenic mutations in a group of Serbian subjects; furthermore, we constructed a phylogenetic tree encompassing the studied probands and provided detailed phenotypic characterization of subjects.…”

Section: Discussionmentioning

confidence: 99%

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber’s Hereditary Optic Neuropathy

Dawod

Jančić

Marjanovic

et al. 2020

Genes

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disorder that affects central vision in young adults and is typically associated with mitochondrial DNA (mtDNA) mutations. This study is based on a mutational screening of entire mtDNA in eight Serbian probands clinically and genetically diagnosed with LHON and four of their family members, who are asymptomatic mutation carriers. All obtained sequence variants were compared to human mtDNA databases, and their potential pathogenic characteristics were assessed by bioinformatics tools. Mitochondrial haplogroup analysis was performed by MITOMASTER. Our study revealed two well-known primary LHON mutations, m.11778G>A and m.3460G>A, and one rare LHON mutation, m.8836A>G. Various secondary mutations were detected in association with the primary mutations. MITOMASTER analysis showed that the two well-known primary mutations belong to the R haplogroup, while the rare LHON m.8836A>G was detected within the N1b haplogroup. Our results support the need for further studies of genetic background and its role in the penetrance and severity of LHON.

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Mitogenomic diversity in Czechs and Slovaks

Malyarchuk

Skonieczna

Duleba

et al. 2022

Forensic Science International: Genetics

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Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases

Cited by 8 publications

References 73 publications

Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates

Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber’s Hereditary Optic Neuropathy

Mitogenomic diversity in Czechs and Slovaks

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