Complete Mitochondrial DNA Genome Variation in the Swedish Population DOI Open Access
Kimberly Sturk‐Andreaggi, Martin Bodner, J. Ring

et al.

Genes, Journal Year: 2023, Volume and Issue: 14(11), P. 1989 - 1989

Published: Oct. 25, 2023

The development of complete mitochondrial genome (mitogenome) reference data for inclusion in publicly available population databases is currently underway, and the generation more high-quality mitogenomes will only enhance statistical power this forensically useful locus. To characterize mitogenome variation Sweden, DNA (mtDNA) reads from SweGen whole sequencing (WGS) dataset were analyzed. overcome interference low-frequency nuclear mtDNA segments (NUMTs), a 10% variant frequency threshold was applied analysis. In total, 934 forensic-quality haplotypes characterized. Almost 45% belonged to haplogroup H. Nearly all (99.1%) assigned European haplogroups, which expected based on previous studies Swedish population. There signature northern Finnish haplogroups observed (e.g., U5b1, W1a), consistent with analyses data. analysis resulted high haplotype diversity (0.9996) random match probability 0.15%. Overall, provide large also contribute effort estimate global frequencies.

Language: Английский

Evolutionary history and population dynamics of a widespread mantis shrimp Oratosquilla oratoria: Evidence from mitogenomic analysis and species distribution modeling DOI
Liwen Zhang,

Lin He,

Min Hui

et al.

Regional Studies in Marine Science, Journal Year: 2025, Volume and Issue: 81, P. 104009 - 104009

Published: Jan. 1, 2025

Language: Английский

Citations

0
Quality Human Mitogenome Sequence Data Amenable for Use as Population Reference Data Obtained from Manual Processing Using the Collibri™ ES DNA Library Prep Kit DOI Open Access
Eva A. Nambati, Edward Muge,

Belinda Azzam

et al.

Forensic Genomics, Journal Year: 2025, Volume and Issue: unknown

Published: March 17, 2025

Language: Английский

Citations

0
Comprehensive Identification of Mitochondrial Pseudogenes (NUMTs) in the Human Telomere-to-Telomere Reference Genome DOI Open Access
Yichen Tao, Chengpeng He,

Deng Lin

et al.

Genes, Journal Year: 2023, Volume and Issue: 14(11), P. 2092 - 2092

Published: Nov. 17, 2023

Practices related to mitochondrial research have long been hindered by the presence of pseudogenes within nuclear genome (NUMTs). Even though partially assembled human reference genomes like hg38 included NUMTs compilation, exhaustive only complete (T2T-CHR13) remain unknown. Here, we comprehensively identified fixed using pan-mitogenome (HPMT) from GeneBank. The inclusion HPMT serves purpose establishing an authentic DNA (mtDNA) mutational spectrum for identification NUMTs, distinguishing it polymorphic variations found in NUMTs. Using HPMT, approximately 10% additional three under stricter thresholds. And also observed approximate 6% increase T2T-CHR13 compared hg38, including on short arms chromosomes 13, 14, and 15 that were not previously. Furthermore, alignments based 20-mer mtDNA suggested more mtDNA-like segments genome, which should be avoided amplicon or cell free detection. Finally, through assay transposase-accessible chromatin with high-throughput sequencing (ATAC-seq) lines before after elimination, concluded a minimal impact bulk ATAC-seq, even 16% data originated

Language: Английский

Citations

4
Genetic diversity and origin of Kazakh Tobet Dogs DOI Creative Commons
Anastassiya Perfilyeva, Kira Bespalova, Yelena Kuzovleva

et al.

Scientific Reports, Journal Year: 2024, Volume and Issue: 14(1)

Published: Oct. 4, 2024

The Kazakh Tobet is an indigenous dog breed that has been used to guard livestock since ancient times. To understand the genetic structure and phylogenetic relationship of with other herding guarding breeds, we analysed short tandem repeat data 107 dogs from different regions Kazakhstan Mongolia, as well whole genome sequencing two 43 24 working breeds. Our results indicate a high diversity Tobet, average number alleles per locus ranging 6.00 10.22 observed heterozygosity 76 78%. complex characterised by seven clusters. neighbour-joining tree constructed based on 14,668,406 autosomal maximum likelihood mitochondrial D-loop sequences common heritage between Central Asian Shepherd Dog Turkish Akbash. presence haplotype A18 in Tobets supports hypothesis origin breed, which was previously suggested archaeological finds written sources. These provide important basis for ongoing efforts improve ensure its preservation independent lineage recognise international level.

Language: Английский

Citations

1
Helena’s Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample DOI Open Access
Martin Bodner,

Christina Amory,

Anna Olivieri

et al.

International Journal of Molecular Sciences, Journal Year: 2022, Volume and Issue: 23(12), P. 6725 - 6725

Published: June 16, 2022

The high number of matching haplotypes the most common mitochondrial (mt)DNA lineages are considered to be greatest limitation for forensic applications. This study investigates potential solve this constraint by massively parallel sequencing a large mitogenomes that share West Eurasian mtDNA control region (CR) haplotype motif (263G 315.1C 16519C). We augmented pilot on 29 total 216 Italian represents largest set CR compiled from single country. extended population sample confirmed and huge coding diversity behind motif. Complete mitogenome allowed detection 163 distinct haplotypes, raising power discrimination 0 99.6% (mitogenome). mtDNAs were clustered into 61 named clades haplogroup H did not reveal phylogeographic trends within Italy. Rapid individualization approaches investigative purposes limited frequent dataset, viz. H1, H3, H7.

Language: Английский

Citations

4
Skeletal evidence of the ethnic cleansing actions in the Free City of Danzig (1939-1942) based on the KL Stutthof victims analysis DOI Creative Commons
Joanna Drath,

Grzegorz Machalski,

Mariusz Holicki

et al.

Science & Justice, Journal Year: 2023, Volume and Issue: 63(3), P. 313 - 326

Published: March 12, 2023

In the early days of World War II, many prominent and influential people Polish nationality from Free City Danzig were arrested by Germans sent to nearby concentration camp KL Stutthof. Nearly a hundred them died within next seven months upon their arrival, buried in clandestine mass grave forest. However, exact nature death is unknown, as it unclear what attitude aggressors was toward victims. We do not know whether there only one executioner or several assassins, nor if killing methodology consistent with other state-regulated executions. The studied material represents commingled remains minimum thirty-four people, possibly all male, aged under eighteen over sixty at time death. Perimortem traumatic lesions are shown mainly on skull bones. asked perimortem trauma visible victims' skeletons could be informative cause manner Our results show prevalence inflicted blunt object parietal bones above Hat Brim Line (HBL), which commonly associated violent attack. gunshot usually localized occipital bone posterior parietal, indicate shot back head, this encountered during No signs defensive injuries can explained either restraining hands surprise abundance variability type evident multiple assailants. Moreover, impact points detected crania prove unnecessary overkill brutality, reflects personal attitudes executioners towards

Language: Английский

Citations

2
Complete Mitochondrial DNA Genome Variation in the Swedish Population DOI Open Access
Kimberly Sturk‐Andreaggi, Martin Bodner, J. Ring

et al.

Genes, Journal Year: 2023, Volume and Issue: 14(11), P. 1989 - 1989

Published: Oct. 25, 2023

The development of complete mitochondrial genome (mitogenome) reference data for inclusion in publicly available population databases is currently underway, and the generation more high-quality mitogenomes will only enhance statistical power this forensically useful locus. To characterize mitogenome variation Sweden, DNA (mtDNA) reads from SweGen whole sequencing (WGS) dataset were analyzed. overcome interference low-frequency nuclear mtDNA segments (NUMTs), a 10% variant frequency threshold was applied analysis. In total, 934 forensic-quality haplotypes characterized. Almost 45% belonged to haplogroup H. Nearly all (99.1%) assigned European haplogroups, which expected based on previous studies Swedish population. There signature northern Finnish haplogroups observed (e.g., U5b1, W1a), consistent with analyses data. analysis resulted high haplotype diversity (0.9996) random match probability 0.15%. Overall, provide large also contribute effort estimate global frequencies.

Language: Английский

Citations

1