ND2 Gene Research Articles

Molecular characterization and B-cell epitope analysis of the TSP11 gene in Echinococcus infection strains from Yunnan Province

Abstract This study investigates the molecular intricacies of the transmembrane protein TSP11 gene in Echinococcus strains isolated from livestock and patients in Yunnan Province afflicted with Echinococcus granulosus (E. granulosus) between 2016 and 2020. Gene typing analysis of the ND1 gene revealed the presence of the G1 type, G5 type and untyped strains, constituting 52.4, 38.1 and 9.5%, respectively. The analysis of 42 DNA sequences has revealed 24 novel single nucleotide polymorphic sites, delineating 11 haplotypes, all of which were of the mutant type. Importantly, there were no variations observed in mutation sites or haplotypes in any of the hosts. The total length of the TSP11 gene's 4 exons is 762 bp, encoding 254 amino acids. Our analysis posits the existence of 6 potential B-cell antigenic epitopes within TSP11, specifically at positions 49-KSN-51, 139-GKRG-142, 162-DNG-164, 169-NGS-171, 185-DS-186 and 231-PPRFTN-236. Notably, these epitopes exhibit consistent presence among various intermediate hosts and haplotypes. However, further validation is imperative to ascertain their viability as diagnostic antigens for E. granulosus in the Yunnan Province.

A New Species of the Cyrtodactylus pulchellus Group (Squamata: Gekkonidae) from Surat Thani Province, Thailand Underscores This Group’s Remarkable Diversity on the Thai-Malay Peninsula

An integrative taxonomic study recognized a new species of the Cyrtodactylus pulchellus group from Kanchanadit District, Surat Thani Province, Southern Thailand. Phylogenetic analyses of the mitochondrial ND2 gene revealed a new species, Cyrtodactylus kanchanaditsp. nov., that is closely related to C. lekaguli. The new species differs from its sister lineage by bearing mean genetic divergence of 4.53% and significant differences in both mensural and morphometric characters (p < 0.05). Cyrtodactylus kanchanaditsp. nov. can be differentiated from the remaining members of the C. pulchellus species group because of its genetic divergence of ≥7.99% and a combination of differences in body size: 11–15 supralabial and 10–12 infralabial scales, 29–35 paravertebral tubercles, 18–23 longitudinal rows of dorsal tubercles, 32–37 rows of ventral scales, 20–23 subdigital lamellae on the fourth toe, 32–37 femoroprecloacal pores in adult males, and four or five dark body bands; weak tuberculation on body; absence of tubercles in the ventral body fold, absence of precloacal pores in females, and absence of scattered pattern of white tubercles on dorsum; presence of precloacal groove depression; and maculated white caudal bands. Cyrtodactylus kanchanaditsp. nov. is currently known from its type locality.

Description of a new species of the Asian newt genus Tylototriton (Amphibia, Urodela, Salamandridae) from Hunan Province, China

The newt genus Tylototriton is widely distributed in east, southeast, and south Asia. Previous studies have shown that basic surveys of this genus are far from comprehensive, and unknown species still exist within the group. In this study, we described a new species of this genus, Tylototriton gaowangjienensissp. nov., from Gaowangjie National Nature Reserve in Hunan Province, China, based on evidence from molecular identification and morphological comparisons. Additionally, we conducted phylogenetic analysis of the genus to elucidate the taxonomic status of the new species. Based on combined mitochondrial 16S rRNA and ND2 gene sequences, the phylogenetic tree supported the new species as a member of the T. wenxianensis species subclade in the subgenus Yaotriton. It can be distinguished from its congeners by the combination of the following characteristics: (1) medium-sized body; (2) finger tips extending beyond the snout while forelimbs stretched forward; (3) tips of forelimbs and hindlimbs reaching and overlapping when folded towards the body; (4) snout edge round; (5) absence of small papillae in the male cloacal fissure; (6) dorsal ridges narrow, with width smaller than the eye diameter; (7) head length (HDL) greater than head width (HDW) (HDL/HDW = 1.04~1.22); (8) orange markings absence on the parotoid; (9) nodule-like warts on body sides continuous; (10) vomerine teeth not connected at the tip, extending to the occipital bone at the posterior end.

Integrative Taxonomy Revealed High Diversity of Hemiphyllodactylus Bleeker, 1860 (Squamata: Gekkonidae) and the Description of Three New Species from Yunnan Province, China.

The karst landform in Yunnan Province, China, represents one of the most biodiverse regions for Hemiphyllodactylus. Previous research has revealed that the karst forests in this province host a greater diversity of Hemiphyllodactylus than previously acknowledged. However, substantial fundamental data essential for taxonomic and biogeographical studies are lacking. We conducted extensive surveys for Hemiphyllodactylus in the Yunnan Province that led to the discovery of three new species from Menglian Dai, Lahu, and Wa Autonomous County and Jinghong City based on morphological and genetic data. A phylogenetic reconstruction based on the ND2 gene (1038 bp) placed the three new species into clade 3 and clade 4 of Agung et al. The uncorrected genetic pairwise distance of the Menglian specimens were greater than 5.7%, and those of the Jinghong City specimens were greater than 5.2% and 8.5%, respectively. They could be distinguished from their congeners by body size, chin scales, internasal scales, ventral scales, dorsal scales, and the total number of femoral and precloacal pores. Furthermore, we update the distributional knowledge of the known species.

Relation of mitochondrial DNA copy number and variants with the clinical characteristics of polycystic ovary syndrome

Mounting evidences suggests mitochondrial dysfunction as a novel contributor in the pathogenesis of PCOS. Herein, we analyzed mtDNA copy number, a biomarker of mitochondrial function in women with PCOS and non-PCOS participants and study its correlation with their clinical characteristics. In this study, we further analyzed association of 383 mtDNA variants, as reported previously by us, with characteristic traits of PCOS and perform structural analysis of mutated protein. Our results indicate relative mitochondrial DNA (mtDNA) copy number to be significantly reduced in women with PCOS compared to non-PCOS group and significantly inversely related to waist to hip ratio (WHR), triglycerides and positively related to high density lipoprotein-cholesterol (HDL-C). After adjustment of the age in the PCOS group, significantly negative correlation of mtDNA copy number with WHR was observed. Unsupervised hierarchical clustering analysis revealed rare, low heteroplasmic mtDNA variants such as 12556G, 1488T, 9200G, 9670G, 3308G, 14480G, 15914T and 5426G to be strongly associated with PCOS related traits. Among these variants, variant 12256G in ND5 gene affected both the flexibility and overall stability of the protein structure. This study is first to reveal significant correlation of mtDNA copy number with WHR in women with PCOS indicating link between mitochondrial dysfunction with central obesity in PCOS. we also first time showed association of rare mtDNA variants with characteristics traits of PCOS highlighting the clinical significance of rare mtDNA variants, which may cumulatively act as early predictors of risk of PCOS and its related comorbidities which may help in the management of PCOS.

Comparative selective pressure analysis on mitochondrial protein-coding genes in flying squirrels (Pteromyini) and tree squirrels (Sciurini)

Different animal groups with varying locomotion modes may have unique energy requirements. Mitochondria produce adenosine triphosphate (ATP) and reactive oxygen species via oxidative phosphorylation to support organisms energy requirements. The tribes Pteromyini (flying squirrels) and Sciurini (tree squirrels), two closely related taxa within the family Sciuridae, exhibit distinct locomotion modes, energy requirements, and likely face different selective pressures on mitochondrial protein-coding genes (PCGs). We analysed 13 mitochondrial genome sequences from species belonging to the tribe Pteromyini and 117 from species belonging to the tribe Sciurini. Phylogenetic analysis revealed Pteromyini and Sciurini formed a sister relationship within the family Sciuridae. Among the 13 PCGs, ATP8 exhibited the highest dN/dS values, while COX1 showed the lowest. The background selection ratio (ω2) values for six genes (ND1, ND2, ND4, ATP6, ND5, and COX3) in Pteromyini were lower than the foreground selection ratio (ω0) values observed in Sciurini. A RELAX analysis revealed that CYTB, ND4, ATP6, and COX3 genes experienced intensified in selection strength. BUSTED analysis identified stronger signatures of diversifying selection in CYTB and ATP6, highlighting amino acid changes. MEME identified episodic diversifying selection at specific sites among eight PCGs. These findings revealed distinct selective pressures on PCGs in flying and tree squirrels.

Characterization and phylogenetic analysis of the mitochondrial genome of Cylicostephanus longibursatus.

Cylicostephanus longibursatus is a common parasite in equine animals. Hosts infected by these nematodes might face disease or death. This study utilized next-generation sequencing technology to sequence the complete mitochondrial genome (mt genome) of C. longibursatus. Through bioinformatics techniques, the genomic base composition, codon usage, tRNA secondary structures, evolutionary relationships, and taxonomic status were analyzed. The results revealed that the mitochondrial genome of C. longibursatus is a double-stranded, 13,807-bp closed circular molecule with an AT content of 76.0%, indicating a clear preference for AT bases. The mitochondrial genome consisted of a total of 12 protein-coding genes, 22 tRNA genes, 2 rRNA genes, and 2 non-coding regions. Among the 12 protein-coding genes, TTG and ATT were the common start codons. TAA was the predominant termination codon, except for the ND3 and ND6 coding genes, and the COШ genes used TAG and "T" as termination codons, respectively. All tRNAs exhibited atypical clover-leaf secondary structures, except for tRNALys and tRNALeu2, where two tRNASer genes lacked DHU arms and DHU loops, tRNAmet lacked the TΨC-arm, tRNAIle lacked the TΨC-loop, and the remaining 16 tRNAs lacked the TΨC-arm and TΨC loop, which were substituted by the "TV-replacement loop". Phylogenetic analyses, based on the 12 protein-coding genes and utilizing maximum likelihood (ML) and Bayesian inference (BI) analyses, indicated that C. longibursatus did not form a monophyletic group with other Cylicostephanus but was instead more closely related to Cyathostomum. These research findings provide fundamental data for exploring the population classification and phylogeny of strongylid nematodes.

A new species of alien land flatworm in the Southern United States.

Specimens of a flat and dark brown land planarian were found in a plant nursery in North Carolina, USA in 2020. On the basis of examination of photographs of the live specimens only, the specimens were considered as belonging to Obama nungara, a species originally from South America, which has now invaded a large part of Europe. Unexpectedly, a molecular analysis revealed that the specimens did not belong to this species, neither to the genus Obama. We then undertook its histological study, which finally confirmed that the species is a member of the genus Amaga: the species is herein described as a new species, Amaga pseudobama n. sp. The species has been found in three locations in North Carolina and some infested plants were from Georgia. We reinvestigated specimens collected in Florida in 2015 and found that they also belong to this species. Citizen science observations suggest its presence in other states. Therefore, it is likely that A. pseudobama has already invaded a part of south-east USA and that the invasion took place more than ten years ago. The complete 14,909 bp long mitochondrial genome was obtained. The mitogenome is colinear with those of other Geoplanidae and it was possible to find and annotate a tRNA-Thr, which has been reported missing in several geoplanids. Amaga pseudobama shares with other Geoplaninae the presence of alternative start codons in three protein-coding genes of its mitogenome. The availability of this new genome helped us to improve our annotations of the ND3 gene, for which an ATT start codon is now suggested. Also, the sequence of the ATP6 gene raised questions concerning the use of genetic code 9 to translate the protein-coding genes of Geoplanidae, as the whole translated protein would not contain a single methionine residue when using this code. Two maximum likelihood phylogenies were obtained from genomic data. The first one was based on concatenated alignments of the partial 28S, Elongation Factor 1-alpha (EF1) and cox1 genes. The second was obtained from a concatenated alignment of the mitochondrial proteins. Both strictly discriminate A. pseudobama from O. nungara and instead associate it with Amaga expatria. We note that the nine species currently accepted within Amaga can be separated into two groups, one with extrabulbar prostatic apparatus, including the type species A. amagensis, and one with intrabulbar prostatic apparatus, including the new species A. pseudobama. This suggests that species of the latter group should be separated from Amaga and constitute a new genus. This finding again illustrates the possible emergence of new invasive species in regions naturally devoid of large land planarians, such as North America. Amaga pseudobama thus deserves to be monitored in the USA, although its superficial resemblance to O. nungara and Geoplana arkalabamensis will complicate the use of photographs obtained from citizen science. Our molecular information provides tools for this monitoring.

Whole Mitochondrial Genome Sequencing Analysis of Canine Testicular Tumours.

Currently, the molecular background based on mitochondrial DNA (mtDNA) analysis of canine testicular tumours is underestimated. The available data mostly focus on histopathological evaluations, with a few reports of nuclear genome (nDNA) studies. Tumourigenesis represents a highly complex and diverse genetic disorder, which can also encompass defects in mtDNA. The aim of this study was to identify molecular changes in whole mitochondrial genome sequences obtained from dogs affected by testicular tumours. Samples of blood, tumour, and healthy tissue were collected from each animal, and mtDNA (ultimately 45 samples) was subsequently sequenced. Thereafter, protein analyses were performed to assess the impact of the identified molecular alterations on the amino acid level. The total number of observed changes included 722 SNPs, 12 mutations, 62 indels, 5 indel mutations, and 35 heteroplasmic sites. The highest number of mtDNA variants in protein-coding genes COX1, COX3, ATP6, ND1, ND4, and ND5 was observed. Interestingly, SNPs were found in 10 out of 22 tRNA genes. Most of the identified mtDNA defects were synonymous changes at the amino acid level. Also, polymorphisms and heteroplasmy were frequently observed in the variable number of tandem repeat (VNTR) regions, especially in its fragment spanning 16,138-16,358 bp. Based on the obtained results, it was possible to select 11 polymorphisms that occurred in all the tested samples (benign, malignant) and an additional five SNPs identified only in benign neoplasms. The comprehensive analysis of malignant testicular tumours demonstrated a significant diversity in their molecular profiles, with changes ranging from 17 to 101 per sample.

Transcriptome analysis of the effect of HERV-K env gene knockout in ovarian cancer cell lines.

Human endogenous retroviruses (HERVs) have been implicated in the pathogenesis of various diseases, particularly cancers. Previous investigations from our group demonstrated that targeted knockout (KO) of the HERV-K env gene led to a significant reduction in tumorigenic attributes, including proliferation, migration, and invasion of ovarian cancer cells. In this study, we aimed to elucidate the impact of HERV-K env KO on gene expression in ovarian cancer cell lines through comparative RNA sequencing (RNA-Seq) analysis with two distinct HERV-K env KO ovarian cancer cell lines, SKOV3 and OVCAR3. HERV-K env gene KO was achieved in SKOV3 and OVCAR3 ovarian cancer cell lines using the CRISPR-Cas9 system. Next-generation mRNA sequencing was employed to assess the gene expression profiles of both mock and HERV-K env KO ovarian cancer cells. Furthermore, comprehensive analyses involving gene ontology and pathway assessments were conducted. Transcriptome analysis revealed that 23 differentially expressed genes (DEGs) were upregulated and 17 DEGs were downregulated in SKOV3 cells. In OVCAR3 cells, 198 DEGs were upregulated, and 17 DEGs were downregulated. Notably, 53 DEGs exhibited statistically significant differences among the 1,612 DEGs identified. Our findings indicate that HERV-K env gene KO exerts a profound influence on gene expression patterns in OVCAR3 cells, while genetic alterations in expression were relatively modest in SKOV3 cells. Nevertheless, genes ND1, ND2, and CYTB displayed a common increase in expression, while ERRFI1 and NDRG1 exhibited a decrease in expression in both cell lines. Our study demonstrates that KO of the HERV-K env gene in ovarian cancer cell lines has a substantial impact on gene expression patterns and can be used to identify potential therapeutic targets for ovarian cancer and related diseases.

Optimizing growth and mitochondrial function in rainbow trout, Oncorhynchus mykiss through eco-friendly dietary and changes in water temperature regimen strategies

Developing sustainable aquaculture remains a challenge, notably finding suitable alternatives to marine ingredients in carnivorous fish diets such as rainbow trout (Oncorhynchus mykiss) in changing climate. These new diets are especially important because rainbow trout are an ecologically and economically significant aquaculture species. Therefore, we investigated the impact of sustainable ingredients and water temperature manipulations on rainbow trout growth characteristics and mitochondrial function. A total of 432 fish were fed four isocaloric, isolipidic, and isonitrogenous diets comprised 40 % crude protein and 20 % lipid and formulated as diet 1 (animal-based protein +25 % fish oil/ 50 % plant oil/ 25 % terrestrial animal oil), or diet 2 (animal-based protein +100 % plant oil), or diet 3 (plant-based protein +25 % fish oil/ 50 % plant oil/25 % terrestrial animal oil), or diet 4 (plant-based protein +100 % plant oil) at 14 °C or 18 °C or 20 °C water temperature. Results showed percent weigh gain (PWG) and specific growth rate (SGR), feed efficiency (FE), and feed intake (FI) were significantly (P < 0.05) higher in fish reared at 14 °C and 18 °C compared to 20 °C. The PWG, FE, FI, and SGR levels were significantly (P < 0.05) higher for fish fed diets 1 and 2 than those fed diets 3 and 4. Dietary composition influenced whole-body proximate composition, while temperature affected protein, moisture, and lipid contents. For protein, lipid, and energy contents, temperature-diet interactions were significant (P < 0.05). There were differences in mitochondrial enzymatic activities in muscle, liver and intestine. Diet affected only complex V activity in the liver, whereas temperature significantly (P < 0.05) affected the activities of complexes II, III, and V. A temperature-dietary interaction was observed for complex V. The temperature regimens, but not dietary composition, affected muscle mitochondrial enzymatic activities. There were significant (P < 0.05) effects of temperature on complex III, IV, and citrate synthase activities in the intestine, whereas dietary composition had no significant impact (P > 0.05). Based on diet, temperature, and diet-temperature interactions effects, selected genes were expressed differently in different tissues. The nd1, cox2, cytb, cox1, atp6 and PPAR-α genes were significantly influenced by diet and temperature interactions in muscle, liver and intestine. Overall, our results showed that both temperature and dietary composition had significant effects on growth characteristics, proximate composition, mitochondrial enzymatic activities, and their interactions on gene expression levels in rainbow trout. These findings underscore the importance of considering these factors in the development of plant-based aquafeeds in order to optimize growth and productivity.

First Record of the Complete Mitochondrial Genome for the Genus Borbo (Lepidoptera, Hesperiidae): Characterization and Comparative Genomic Analysis

Butterflies of the genus Borbo are mainly distributed in the Oriental and Australian regions and are considered pests of important crops. However, no mitochondrial genomes have been reported for this genus until now, leaving the evolutionary characteristics and differentiation patterns of their mitogenomes unclear. In this study, we present the first complete mitochondrial genome sequence of the rice swift, Borbo cinnara. The circular double-stranded mitogenome was 15,508 bp in length, comprising 13 protein-coding genes (PCGs), 2 ribosomal RNA genes (rRNAs), 22 transfer RNA genes (tRNAs), and 1 non-coding control region (CR). Among the mitogenomes of Hesperiinae, the ND3 gene was found to be the most variable PCG, while COX1 was the most conserved. Selection pressure analysis revealed that ND3 was under relaxed purifying selection, whereas COX1 was subjected to strong purifying selection. Phylogenetic trees reconstructed using both the Bayesian inference (BI) and maximum likelihood (ML) methods yielded robust and identical topologies, confirming the sister relationship between B. cinnara and Pelopidas mathias at the mitogenome level. Methodologically, this research enriches novel molecular markers for the species identification of butterflies and enhances our understanding of mitogenomic evolution in Lepidoptera.

The first complete mitochondrial genome and phylogenetic analysis of deep-sea asteroid, Leptychaster arcticus (Valvatacea: Paxillosida: Astropectinidae)

The complete mitochondrial genome of Leptychaster arcticus, deep-sea inhabited asteroid, was examined in this study. The complete mitogenome of L. arcticus is 16,253 bp in length and contains 13 protein-coding genes, 22 transfer RNA genes, and two ribosomal RNA genes. No gene rearrangements or deletions were observed in compared to other Paxillosida. The ND4L and ND3 genes have ‘ATT’ as its start codon, which is a feature that has been found in previous echinoderm mitochondrial studies. In the ML tree analysis based on the superorder Valvatacea, it was difficult to establish the molecular phylogenetic relationship at lower taxonomic levels, such as order and family, due to the lack of asteroid molecular data available. Therefore, we expect to contribute to the expansion of the data and determine the phylogenetic positioning in future studies.

Study of the association between oxytocin receptor gene polymorphism, childhood adversity and negative symptoms of schizophrenia

Is known that the neurohormone oxytocin plays an important role in the pathogenesis of mental illness, and also models the relationship between stress factors, especially those acting in the early stages of development, and the development of mental disorders. Based on these data, we investigated the effects of the interaction of the environmental factor, which was considered the adversity of childhood (ND) and the oxytocin receptor (OXTR) genotypes in the polymorphic sites rs4686302 and rs7632287, on the severity of negative symptoms of schizophrenia. The study involved 592 patients with schizophrenia (headings F20. according to ICD-10). Information about the presence of ND was obtained from case histories and patient interviews. Analysis of covariance (GML) was used for statistical data processing; in post-hoc pairwise comparison, Tukey’s test was used. A significant effect of the interaction between ND and OXTR gene polymorphism rs7632287(G/A) on the severity of negative symptoms in patients with schizophrenia was revealed. In patients without ND, polymorphisms did not have a significant effect on the studied phenotype. Thus, our study showed for the first time that the rs7632287(G/A) polymorphism and ND have a mutual effect on the severity of negative symptoms of schizophrenia.

Mitochondrial Pathogenic Mutations and Expression Pattern of Oxidative Phosphorylation Genes in COVID-19 Patients

Mitochondrial missense mutations and pathogenic variants have been implicated in the pathogenesis of COVID‐19. This study evaluated the role of mitochondrial DNA (mtDNA) mutations and changes in gene expression in the progression of COVID-19 and their correlation with clinical characteristics. Next‐generation sequencing with high throughput was used to identify mtDNA mutations in 30 COVID-19 patients compared to 20 healthy controls. The potential impact of identified mutations on protein structure and stability was predicted using bioinformatic tools. Quantitative real-time polymerase chain reaction was employed to assess the expression levels of mtDNA-encoded genes involved in oxidative phosphorylation in COVID-19 patients and healthy controls. Correlations between gene expression levels, clinical parameters, including leukocyte, lymphocyte, neutrophil, and platelet count, as well as creatinine, alanine transaminase (ALT), aspartate transaminase (AST), and blood urea nitrogen (BUN) levels, and disease severity were analyzed. We found 8 different mtDNA mutations in ND1, ND5, CO3, ATP6, and CYB genes, which were predicted to alter amino acids and decrease protein stability. Two missense unique mutations, C9555T in CO3 and A12418T in ND5 were identified and correlated with Complexes I and IV, respectively. This downregulation was correlated with age, elevated levels of leukocytes, lymphocytes, neutrophils, platelets, creatinine, ALT, AST, and BUN, as well as disease severity. These findings suggest that mtDNA mutations and altered expression of oxidative phosphorylation genes contribute to mitochondrial dysfunction in COVID-19. Targeting mitochondrial dysfunction may represent a promising therapeutic strategy for COVID-19 treatment.

Paternal Mitochondrial DNA Leakage in Natural Populations of Large-Scale Loach, Paramisgurnus dabryanus.

Animal mitochondrial DNA is usually considered to comply with strict maternal inheritance, and only one mitochondrial DNA haplotype exists in an individual. However, mitochondrial heteroplasmy, the occurrence of more than one mitochondrial haplotype, has recently been reported in some animals, such as mice, mussels, and birds. This study conducted extensive field surveys to obtain representative samples to investigate the existence of paternal inheritance of mitochondrial DNA (mtDNA) in natural fish populations. Evidence of paternal mitochondrial DNA leakage of P. dabryanus was discovered using high-throughput sequencing and bioinformatics methods. Two distinct mitochondrial haplotypes (16,569 bp for haplotype I and 16,646 bp for haplotype II) were observed, differing by 18.83% in nucleotide sequence. Phylogenetic analysis suggests divergence between these haplotypes and potential interspecific hybridization with M. anguillicaudatus, leading to paternal leakage. In natural populations of P. dabryanus along the Yangtze River, both haplotypes are present, with Type I being dominant (75% copy number). Expression analysis shows that Type I has higher expression levels of ND3 and ND6 genes compared to Type II, suggesting Type I's primary role. This discovery of a species with two mitochondrial types provides a model for studying paternal leakage heterogeneity and insights into mitochondrial genome evolution and inheritance.

Mitochondrial genome variants associated with amyotrophic lateral sclerosis and their haplogroup distribution.

Amyotrophic lateral sclerosis (ALS) may be familial or sporadic, and twin studies have revealed that even sporadic forms have a significant genetic component. Variants in 55 nuclear genes have been associated with ALS and although mitochondrial dysfunction is observed in ALS, variants in mitochondrial genomes (mitogenomes) have not yet been tested for association with ALS. The aim of this study was to determine whether mitogenome variants are associated with ALS. We conducted a genome-wide association study (GWAS) in mitogenomes of 1965 ALS patients and 2547 controls. We identified 51 mitogenome variants with p values <10-7, of which 13 had odds ratios (ORs) >1, in genes RNR1, ND1, CO1, CO3, ND5, ND6, and CYB, while 38 variants had OR <1 in genes RNR1, RNA2, ND1, ND2, CO2, ATP8, ATP6, CO3, ND3, ND4, ND5, ND6, and CYB. The frequencies of haplogroups H, U, and L, the most frequent in our ALS data set, were the same in different onset sites (bulbar, limb, spinal, and axial). Also, intra-haplogroup GWAS revealed unique ALS-associated variants in haplogroups L and U. Our study shows that mitogenome single nucleotide variants (SNVs) are associated with ALS and suggests that these SNVs could be included in routine genetic testing for ALS and that mitochondrial replacement therapy has the potential to serve as a basis for ALS treatment.

Mitogenome, Poly(A) Mitotranscriptome, and Molecular Phylogeny of Rasbora rasbora (Family Danionidae; Subfamily Rasborinae)

The subfamily Rasborinae is a species-rich group of freshwater fish related to zebrafish; however, its taxonomy remains unclear. We present the complete mitogenome and corresponding polyadenylated mitotranscriptome of Rasbora rasbora (Hamilton 1822) based on long-read and high-coverage Oxford Nanopore Technology sequencing. The mitogenome size, gene content, and gene organization correspond to the typical vertebrate composition, and the mitogenome generates 10 polyadenylated mRNAs. Two alternative polyadenylation sites of ND5 mRNA were detected, one with a 596 nt 3′untranslated region corresponding to the antisense ND6 gene. Polyadenylation also generates seven of the mRNA UAA stop codons. Complete mitogenome sequences, excluding the control region, were carefully aligned for RNA-coding and protein-coding features using 54 available species of the subfamily Rasborinae. The phylogenetic analyses based on maximum likelihood, Bayesian inference, and neighbor-joining tree building methods confirm the transfer of R. rasbora into the Sumatrana species group. The overall phylogeny of the subfamily Rasborinae supports with high confidence some previously observed changes within this subfamily, as well as contradicts some conclusions set by previous studies.

A new species of the Amolops monticola group (Anura, Ranidae) from southern Yunnan, China

A new species of the Amolops monticola group is described from Yunnan Huanglianshan National Nature Reserve, southern Yunnan, China. Morphologically, the new species is characterized by a moderate body size (snout–vent length 38.3–40.8 mm in adult males and 62.3–63.1 mm in adult females), head being longer than wide, nostril to snout tip distance being slightly smaller than eye to nostril distance, the presence of pineal body, distinct tympanum, vomerine teeth being invisible in males and weak but visible in females, distinct dorsolateral folds, the absence of outer metatarsal tubercle, the presence of vocal sac and nuptial pad in adult males, dorsal surface of head and body being green with no or a few black dots, and the presence of a few large flat white tubercles on the posterior inferior flank. Genetically, the uncorrected genetic distance between the new species and other species of the A. monticola group ranged from 3.0% to 7.6% in 16S ribosomal RNA and from 7.2% to 17.1% in NADH dehydrogenase subunit 2 gene sequences. Currently, the new species is known only from its type locality in Lvchun County, Honghe Prefecture, Yunnan Province, China.

Phylogeographic Relationships Reveal the Origin of an Introduced Population of the Dalmatian Algyroides (Reptilia: Lacertidae) into Southern Italy

The genetic structure and dispersal dynamics of reptile populations are profoundly influenced by natural processes and human activities. While natural dispersal is shaped by species’ characteristics and paleogeographical features, human-mediated translocations have become increasingly prevalent, posing ecological challenges. Mitochondrial genetic markers have been pivotal in untangling invasion pathways for various species. Our study focuses on the Dalmatian Algyroides, Algyroides nigropunctatus (Duméril &amp; Bibron, 1839), a lizard species endemic to the Balkan Peninsula, where recent observations in the Apulian region of Italy suggest an introduced population. Genetic analyses employing two mtDNA markers (16S and ND4 genes) elucidate the phylogenetic relationships of the Dalmatian Algyroides and trace the geographic origin of the introduced population. Our findings reveal areas in western Greece and southwestern Albania as the most probable areas of the source population, while we identify two previously undetected geographical lineages in the native range, highlighting the complex evolutionary history of the species in the region. Additionally, indications of potential glacial refugia and post-glacial dispersal patterns shed more light on the species’ demographic dynamics.