Mitochondrial DNA Genetic Diversity

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Genetics and Genomics".

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 5385

Special Issue Editor


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Guest Editor
Department of Veterinary Medicine, University of Milan, 6 - 26900 Lodi, Milan, Italy
Interests: DNA sequencing; mitochondrial DNA; genotyping; population genetics; microsatellites; animal genetics; horse genetics
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Special Issue Information

Dear Colleagues,

The mitochondrial genome (mtDNA) has been confirmed as one of the most useful tools in population genetics and in molecular phylogenetic studies. However, the mitochondrial genome also plays an important role for the function of the cell and for animal health. The sequence variations among mtDNA haplotypes influence several traits, including fertility, whereas pathogenic mutations are often correlated with disease and complex conditions such as aging, diabetes, and cancer and can cause myopathy, cardiomyopathy, ophthalmological defects, and growth retardation. Furthermore, the mitochondrial genes are involved in energy metabolism, and the variation in mtDNA sequences might contribute to differences in performance characteristics. However, we know very little about how mtDNA genetic variations contribute to phenotypic differences.

This Special Issue will cover all aspects of animal population genetics and biodiversity studies as well as the mtDNA influences on animal production traits and sport performances. The submission of original research papers and review articles related to these topics is welcome.

Dr. Maria Cristina Cozzi
Guest Editor

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Keywords

  • mitochondrial DNA
  • population genetics
  • biodiversity
  • genotype to phenotype
  • production traits
  • sport performances
  • animal health

Published Papers (3 papers)

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Research

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13 pages, 1736 KiB  
Article
Molecular Characterization of Hard Ticks Infesting Camels in the Northern Region of Saudi Arabia Using the Barcoding Gene, Mitochondrial Cytochrome oxidase subunit I
by Fevzi Bardakci, Sarah Hilan Mohammed Al-Subaie, Riadh Badraoui, Mohd Adnan and Arif Jamal Siddiqui
Life 2023, 13(7), 1535; https://doi.org/10.3390/life13071535 - 10 Jul 2023
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Abstract
The present study aimed to molecularly identify and characterize the hard ticks infesting camels from the northern region (Ha’il province) of Saudi Arabia using the mitochondrial barcoding gene cytochrome oxidase subunit I (COI). The sequences of tick samples from camels in [...] Read more.
The present study aimed to molecularly identify and characterize the hard ticks infesting camels from the northern region (Ha’il province) of Saudi Arabia using the mitochondrial barcoding gene cytochrome oxidase subunit I (COI). The sequences of tick samples from camels in three regions of Ha’il were aligned with those previously reported from different geographic regions, revealing nine haplotypes, of which six were newly described in this study for the first time. These haplotypes were used to determine their phylogenetic relationships using the maximum likelihood method, displaying two distinct clades corresponding to Hyalomma dromedarii and H. impeltatum. Moreover, the haplotypes showing the highest homology with those deposited in NCBI-GenBank from different geographic regions, including Saudi Arabia, were obtained and combined to determine their phylogenetic relationships among them. The results showed that the haplotypes belonging to two clades were grouped with those previously determined as H. dromedarii and H. impeltatum. Moreover, the presence of H. scupense (syn. H. detritum) together with H. impeltatum suggests possible asymmetrical hybridization and mitochondrial introgression between these species. H. scupense infesting different mammal species apart from camels were also clustered in a different clade, indicating the presence of different lineages of this species that show different host specificities. Full article
(This article belongs to the Special Issue Mitochondrial DNA Genetic Diversity)
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12 pages, 2213 KiB  
Communication
Mitochondrial DNA Corroborates the Genetic Variability of Clarias Catfishes (Siluriformes, Clariidae) from Cameroon
by Shantanu Kundu, Piyumi S. De Alwis, Jerome D. Binarao, Soo-Rin Lee, Ah Ran Kim, Fantong Zealous Gietbong, Myunggi Yi and Hyun-Woo Kim
Life 2023, 13(5), 1068; https://doi.org/10.3390/life13051068 - 22 Apr 2023
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Abstract
The airbreathing walking catfish (Clariidae: Clarias) comprises 32 species that are endemic to African freshwater systems. The species-level identification of this group is challenging due to their complex taxonomy and polymorphism. Prior to this study, the biological and ecological studies were restricted [...] Read more.
The airbreathing walking catfish (Clariidae: Clarias) comprises 32 species that are endemic to African freshwater systems. The species-level identification of this group is challenging due to their complex taxonomy and polymorphism. Prior to this study, the biological and ecological studies were restricted to a single species, Clarias gariepinus, resulting in a biased view of their genetic diversity in African waters. Here, we generated the 63-mitochondrial Cytochrome c oxidase subunit 1 (COI) gene sequences of Clarias camerunensis and Clarias gariepinus from the Nyong River in Cameroon. Both C. camerunensis and C. gariepinus species maintained adequate intra-species (2.7% and 2.31%) and inter-species (6.9% to 16.8% and 11.4% to 15.1%) genetic distances with other Clarias congeners distributed in African and Asian/Southeast Asian drainages. The mtCOI sequences revealed 13 and 20 unique haplotypes of C. camerunensis and C. gariepinus, respectively. The TCS networks revealed distinct haplotypes of C. camerunensis and shared haplotypes of C. gariepinus in African waters. The multiple species delimitation approaches (ABGD and PTP) revealed a total of 20 and 22 molecular operational taxonomic units (MOTUs), respectively. Among the two Clarias species examined, we found more than one MOTU in C. camerunensis, which is consistent with population structure and tree topology results. The phylogeny generated through Bayesian Inference analysis clearly separated C. camerunensis and C. gariepinus from other Clarias species with high posterior probability supports. The present study elucidates the occurrence of possible cryptic diversity and allopatric speciation of C. camerunensis in African drainages. Further, the present study confirms the reduced genetic diversity of C. gariepinus across its native and introduced range, which might have been induced by unscientific aquaculture practices. The study recommends a similar approach to the same and related species from different river basins to illuminate the true diversity of Clarias species in Africa and other countries. Full article
(This article belongs to the Special Issue Mitochondrial DNA Genetic Diversity)
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Review

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16 pages, 2172 KiB  
Review
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
by Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Francesco Domenico Di Blasi, Vincenzo Di Stefano, Antonino Lupica, Filippo Brighina, Rosa Pettinato, Corrado Romano and Carmela Scuderi
Life 2023, 13(2), 554; https://doi.org/10.3390/life13020554 - 16 Feb 2023
Cited by 2 | Viewed by 1712
Abstract
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene [...] Read more.
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also found in the homoplasmic condition in the mother who presented with mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss and myopathy with COX deficient ragged-red fibers consistent with MERRF syndrome. This is the first anticodon mutation in the tRNASer(UCN) and the second homoplasmic mutation in the anticodon triplet reported to date. Full article
(This article belongs to the Special Issue Mitochondrial DNA Genetic Diversity)
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