ND2 Gene Research Articles

A phylogenetic assessment of Pronoprymna spp. (Digenea: Faustulidae) and Pacific and Antarctic representatives of the genus Steringophorus Odhner, 1905 (Digenea: Fellodistomidae), with description of a new species

ABSTRACT In this study, we elucidated the phylogenetic position of a Pacific species Pronoprymna petrowi, a Caspian species Pronoprymna ventricosa, an Antarctic species of the genus Steringophorus, S. liparidis, and a new species of the same genus, S. occidentalipacificus sp. nov. The new species was found in a bathylagid fish Leuroglossus schmidti from the Sea of Okhotsk. Steringophorus occidentalipacificus sp. nov. is similar to S. congeri, and differs from it in the length of the body and the forebody, the shape of the testes, the sucker-ratio, the size of eggs and the extension of the caeca and the cirrus-sac. The 28S rRNA gene-based analyses supported a sister relationship between Pr. petrowi and Pr. ventricosa, and put the genus Pronoprymna into to the group of faustulids (sensu lato), which is nested within the Gymnophaloidea clade. Based on the results of these analyses, Steringophorus is identified as a paraphyletic taxon within the Fellodistomidae (Gymnophalloidea). Phylogenic reconstructions also support a morphologically identified sister relationship between S. liparidis and S. thulini and demonstrate a close relationship of S. occidentalipacificus sp. nov. with S. blackeri and S. pritchardae. The analysis of the nd1 gene sequences also confirmed the phylogenetic affinity of S. liparidis to S. thulini. urn:lsid:zoobank.org:pub:6217E5D2-00FD-4135-A8DA-CDBAFACA52

Genetic diversity and phylogeography of European Roe Deer, Capreolus capreolus, in Iran as inferred from mtDNA genes (Mammalia: Cervidae)

We examined the genetic diversity and phlogeographic characters of European Roe Deer populations across its distribution range in Iran. Mitochondrial DNA from 46 samples were sequenced for 1138 bp of cytochrome b and 1020 bp of ND2 genes and analysed alongside the retrieved sequences from GenBank in a concatenated form. The results demonstrated a relatively low nucleotide diversity and high haplotype diversity in the Roe Deer populations of Iran. Two distinct clusters of Roe Deer populations, in the northern and in the western/northwestern part of the country, were recognised based on phylogenetic trees, haplotype network analyses, and Bayesian structuring tests. The presence of some individuals of the western/northwestern regions in the clade of the northern population can be assumed as evidence for occasional gene flow between these two regions. Furthermore, the samples from both populations of Iran were clustered with samples from European countries. It seems this species probably entered Iran from Europe through northern Iran, and then spread to the western/northwestern regions of the country over time.

The effect of Co-Q10 on allergic rhinitis and allergic asthma

BackgroundAllergic asthma is an inflammatory disease resulting from continued or intermittent allergen exposure, and allergic rhinitis can be trigger of asthma. The main mechanism of these disease is allergic reaction and immune response dysregulation. Co-Q10 is an enzyme cofactor in mitochondria can control asthma and allergic rhinitis symptoms. In the present study, we determined that the CoQ10-induced anti-allergic effects were mediated by up-regulation of Nrf2.MethodsAnimal models of allergic rhinitis and allergic asthma were produced and treated with Co-Q10, Co-Q10 and O-3, Co-Q10 and Mg-S. Bronchoalveolar lavage fluid was collected from animal models, and IL-4, 5, 13, INF-y, Eicosanoids, IgE, EPO, and histamine production were measured. Also, COX-2, CCL24, CCL11, Nrf2, Eotaxin, Cytb, COX1 and ND1 genes expressions and histopathology were studied. BALf's cells were collected by tracheostomy and used in slide producing by cytospine. Cytokines, Eicosanoids, IgE, EPO, and histamine were measured by ELISA method. Gene expression was done by Real-time PCR.ResultsCo-Q10 with two supplementation (Mg-S and O-3) modulate MRC, BALf eosinophils, eosinophilic inflammation related genes (eotaxin, CCL11 and CCL24), peribronchial and perivascular inflammation, EPO, type 2 cytokines (IL-4, 5 and 13), IgE, histamine, Cyc-LT and LTB4 as main allergic bio-factors. Importantly, Co-Q10 treatment increased Nrf2 expression and Nrf2 induced antioxidant genes, glutathione redox and inhibited inflammation, oxidative stress injury, Th2 cytokines production and attenuated allergic inflammatory responses.ConclusionNrf2 is activated in response to allergen, induces resistance against the rhinitis and asthma development and plays an essential role in broncho-protection. Co-Q10 increases the Nrf2 expression and the Nrf2 over-expression has strong effect in control of type2 cytokines, allergic mediators and inflammatory factors that lead to harnessing of allergy and asthma.Graphic abstract

A new species of Cyrtodactylus Gray, 1827 (Squamata: Gekkonidae) from Western Yunnan, China

ABSTRACT A new species of Cyrtodactylus previously confused with C. khasiensis is described from Western Yunnan, China, based on morphological and genetic data. The new species can be separated from all other congeners by the lack of femoral pores and a band on the nape, having a distinct ventrolateral fold, fewer precloacals in males, different relative lengths of digits of manus and pes, a patch of evidently enlarged scales between the precloacal pores and vent, and a W-shaped black stripe on the occiput. Genetically, uncorrected sequence divergences of the ND2 gene and its flanking tRNAs between the new species and investigated congeners ranged from 15.52% to 22.31%.http://www.zoobank.org/urn:lsid:zoobank.org:pub:2A6FB3EC-8168-4C58-BE99-FC18BC23F92C

Multiple lines of evidence reveal a new species of Krait (Squamata, Elapidae, Bungarus) from Southwestern China and Northern Myanmar

Kraits of the genus Bungarus Daudin 1803 are widely known venomous snakes distributed from Iran to China and Indonesia. Here, we use a combination of mitochondrial DNA sequence data and morphological data to describe a new species from Yingjiang County, Yunnan Province, China: Bungarus suzhenaesp. nov. Phylogenetically, this species forms a monophyletic lineage sister to the Bungarus candidus/multicinctus/wanghaotingi complex based on cyt b and ND4 genes but forms a sister species pair with the species B. magnimaculatus Wall & Evans, 1901 based on COI gene fragments. Morphologically, B. suzhenaesp. nov. is similar to the B. candidus/multicinctus/wanghaotingi complex but differs from these taxa by a combination of dental morphology, squamation, coloration pattern, as well as hemipenial morphology. A detailed description of the cranial osteology of the new species is given based on micro-CT tomography images. We revised the morphological characters of B. candidus/multicinctus/wanghaotingi complex and verified the validity of three species in this complex. The distribution of these species was revised; the records of B. candidus in China should be attributed to B. wanghaotingi. We also provide an updated key to species of Bungarus.

Complete mitochondrial genome sequence of Awassi-Jo sheep breed (Ovis aries) in Jordan

Using high-throughput sequencing technology, the complete mitochondrial genome of Awassi-Jo breed (Ovis aries) was decoded. Mitochondrial genome was 16,617 bp in length. The genome contained 37 genes (13 protein-coding, 22 tRNA, and 2 rRNA) and a control region (D-loop region). The genes were encoded on the H-strand, except for the ND6 gene and 8 tRNA genes, which were encoded on the L-strand. The GC content is 38.9%. Phylogenetic analysis was performed to compare Awassi-Jo with other sheep breeds. The phylogenetic tree showed that Awassi-Jo diverged earlier than related breeds (Turkey, Italy, Germany, and Netherland) with a common ancestor in haplogroup HB. The results revealed the importance of mitochondrial data in studying sheep evolution and domestication.

Characterization of the complete mitochondrial genome of convex reef crab Carpilius convexus (Forskål, 1775)

The complete mitochondrial genome of convex reef crab Carpilius convexus was determined and characterized for the first time from the South China Sea. The whole mitogenome is 15,766 bp long and consists of 22 tRNA genes, 2 rRNA genes, 13 protein-coding genes (PCGs), and 1 control region. The nucleotide composition of the mitogenome is significantly biased (A, G, T, and C is 36.91%, 17.94%, 34.95%, and 10.19%, respectively) with A + T contents of 71.86%. All PCGs start with a normal initiation codon ATN and terminate with a standard stop codon except ND1 gene end with TTG. Five microsatellites are identified in C. convexus mitogenome sequences. The phylogenetic tree showed that C. convexus was first clustered with Carpilius maculatus, and strongly supports that the recognition of the Carpiliidae as a monophyletic family.

68722 Role of ER calcium in beta cell senescence and diabetes pathophysiology

ABSTRACT IMPACT: The proposed study has the potential to inform new paradigms of type 1 diabetes prevention and therapy with the overall goal of improving β cell health during autoimmunity. OBJECTIVES/GOALS: Type 1 diabetes (T1D) results from immune-mediated destruction of pancreatic βcells. Recent data suggest that activation of senescence and acquisition of a senescence associated secretory phenotype (SASP) by βcells may contribute to T1D pathogenesis. However, the molecular mechanisms responsible for this phenotype are not well understood. METHODS/STUDY POPULATION: We hypothesize that loss of endoplasmic reticulum (ER) Ca2+ induces βcell senescence, SASP as well as mitochondrial dysfunction which drive T1D development. The current study utilizes SERCA2 KO INS-1 βcells (S2KO) exhibiting loss of ER Ca2+ and a SERCA2 haploinsufficient mice on a non-obese diabetic background (NOD-S2+/-) to test the role of ER Ca2+ loss during T1D development. Senescence associated βgalactosidase staining (SA-βgal), expression of senescence markers (RT-qPCR), mitochondrial function (Seahorse, TMRM) and mitochondrial copy number (qPCR) were all measured in S2KO versus WT βcells and are currently being measured in the NOD-S2+/- mouse model at 6, 8, 12, 14, and 16wks of age. RESULTS/ANTICIPATED RESULTS: RT-qPCR assays detecting senescence markers cdkn1a and cdkn2a and mitochondrial specific genes cox1 and nd1 were developed and validated in both INS-1 βcells and mouse islets. Mitochondrial function assay (Seahorse) was optimized for use in INS-1 βcells and is currently under development for use in intact mouse islets. S2KO βcells displayed increased SA- βgal staining as well as increased mitochondrial coupling efficiency (p=0.0146) and baseline mitochondrial copy number (p=0.0053) compared to WT βcells, suggesting a senescence phenotype and altered mitochondrial function. NOD-S2+/- mice exhibited increased expression of the senescence marker cdkn2a in the islet at 12wks (p=0.0117) compared to control mice, whereas cdkn1a remained unchanged across all timepoints tested. DISCUSSION/SIGNIFICANCE OF FINDINGS: Our results suggest that loss of SERCA2 and reduced ER Ca2+ alter βcell mitochondrial function and are associated with features of senescence. Future studies will test whether SERCA2 activation and/or senolytic/senomorphic drugs are able to prevent or delay diabetes onset in NOD-S2+/- mice.

Two Haplotypes of Aedes aegypti Detected by ND4 Mitochondrial Marker in Three Regions of Ecuador.

Simple SummaryThe yellow fever mosquito, Aedes aegypti, is a widespread species associated with the transmission of vector-borne diseases across tropical and subtropical areas of the world. The genetic variability of its populations has been assessed with the use of several molecular markers to understand aspects of the population dynamics and their implication in disease transmission. However, the genetic diversity of Ecuadorian populations of the vector have not been investigated. In this study, we evaluated the genetic diversity of Ecuadorian populations of Ae. aegypti from 17 sites (Galapagos Islands, Amazon basin, and Coastal regions). These analyses revealed the presence of only two haplotypes among the Ecuadorian population of the vector. Haplotype 1, appears to be related to previously reported haplotypes from America, Asia, and West Africa. While haplotype 2 is only related to samples from America. The genetic diversity of Ecuadorian populations seems to be low, according to different statistical analyses, which show only one main population across sampled localities and no effect of the main geographical barriers. Understanding the genetic diversity of local populations is a key element in vector control strategies.Aedes aegypti, also known as the yellow fever mosquito, is the main vector of several arboviruses. In Ecuador, dengue and chikungunya are the most prevalent mosquito-borne diseases. Hence, there is a need to understand the population dynamics and genetic structure of the vector in tropical areas for a better approach towards effective vector control programs. This study aimed to assess the genetic diversity of Ae. aegypti, through the analyses of the mitochondrial gene ND4, using a combination of phylogenetic and population genetic structure from 17 sites in Ecuador. Results showed two haplotypes in the Ecuadorian populations of Ae. aegypti. Haplotype 1 was closely related to Ae. aegypti reported from America, Asia, and West Africa. Haplotype 2 was only related to samples from America. The sampled vectors from the diverse localities showed low nucleotide diversity (π = 0–0.01685) and genetic differentiation (FST = 0.152). AMOVA analyses indicated that most of the variation (85–91%) occurred within populations, suggesting that geographical barriers have little effect on the genetic structure of Ecuadorian populations of Ae. aegypti. These results agree with the one main population (K = 1) detected by Structure. Vector genetic identity may be a key factor in the planning of vector control strategies.

The evolutionary history of manatees told by their mitogenomes

The manatee family encompasses three extant congeneric species: Trichechus senegalensis (African manatee), T. inunguis (Amazonian manatee), and T. manatus (West Indian manatee). The fossil record for manatees is scant, and few phylogenetic studies have focused on their evolutionary history. We use full mitogenomes of all extant manatee species to infer the divergence dates and biogeographical histories of these species and the effect of natural selection on their mitogenomes. The complete mitochondrial genomes of T. inunguis (16,851 bp), T. senegalensis (16,882 bp), and T. manatus (16,882 bp), comprise 13 protein-coding genes, 2 ribosomal RNA genes (rRNA - 12S and 16S), and 22 transfer RNA genes (tRNA), and (D-loop/CR). Our analyses show that the first split within Trichechus occurred during the Late Miocene (posterior mean 6.56 Ma and 95% HPD 3.81–10.66 Ma), followed by a diversification event in the Plio-Pleistocene (posterior mean 1.34 Ma, 95% HPD 0.1–4.23) in the clade composed by T. inunguis and T. manatus; T. senegalensis is the sister group of this clade with higher support values (pp > 0.90). The branch-site test identified positive selection on T. inunguis in the 181st position of the ND4 amino acid gene (LRT = 6.06, p = 0.0069, BEB posterior probability = 0.96). The ND4 gene encodes one subunit of the NADH dehydrogenase complex, part of the oxidative phosphorylation machinery. In conclusion, our results provide novel insight into the evolutionary history of the Trichechidae during the Late Miocene, which was influenced by geological events, such as Amazon Basin formation.

Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.

BackgroundLeber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease whose primary clinical manifestation is bilateral visual loss. Only a single therapy, idebenone, is approved in Europe for use in exceptional circumstances and no therapy is currently approved in the USA. LHON remains a disease with a high unmet medical need.ObjectiveThis is a report of an open-label, single-center, dose-escalation study that evaluated the safety and tolerability of lenadogene nolparvovec in 15 subjects with LHON for up to 5 years following a single intravitreal injection at four dose levels.MethodsSubjects were enrolled sequentially in four cohorts followed by an additional cohort at the dose selected, and safety was assessed by an independent data safety monitoring board (DSMB) prior to any dose escalation.ResultsOverall, the treatment was well tolerated during the 5-year follow-up. No serious adverse events were considered related to treatment, no unexpected adverse events occurred, and no grade 3 or 4 Common Terminology Criteria for Adverse Events were reported. Anterior chamber inflammation and vitritis were mostly managed with topical steroids, and ocular inflammation was considered to be dose limiting by the DSMB based on the benefits/risks for the subjects. Analysis of the logarithm of the minimal angle of resolution (LogMAR) visual acuity in both treated and untreated eyes showed clinically relevant and durable improvements compared with baseline. Mean improvements of − 0.44 and − 0.49 LogMAR for treated and untreated eyes, respectively, were noted, with a mean (± standard deviation) final value of LogMAR + 1.96 ± 0.60 and + 1.65 ± 0.34, respectively, at 5 years post-treatment administration. For the six subjects treated with the optimal dose level (9 × 1010 viral genomes [vg]/eye), the mean visual acuity improvement from baseline reached − 0.68 LogMAR for treated eyes and − 0.64 LogMAR for untreated eyes, with a mean final value of LogMAR + 1.77 ± 0.52 and + 1.78 ± 0.34, respectively. While there was a meaningful improvement in visual acuity for REVEAL subjects, the final visual acuity was less favorable than that seen in the two subsequent pivotal phase III studies in which subjects were treated earlier during the course of their disease.ConclusionLenadogene nolparvovec was well tolerated with a good safety profile during 5 years of follow-up and may offer meaningful lasting improvements in vision for this LHON population.Clinical Trial NumberEUDRACT N° 2013-001405-90.

Extensive hybridization between two Andean warbler species with shallow divergence in mtDNA

AbstractStudying processes acting on differentiated populations upon secondary contact, such as hybridization, is important to comprehensively understand how species are formed and maintained over time. However, avian speciation studies in the tropical Andes have largely focused on the role of topographic and ecological barriers promoting divergence in allopatry, seldom examining hybridization and introgression. We describe a hybrid zone involving 2 closely related Andean warblers (Parulidae), the Golden-fronted Redstart (Myioborus ornatus), and the Spectacled Redstart (Myioborus melanocephalus). Geographic ranges of these species abut near the Colombia-Ecuador border and many specimens from the region exhibit intermediate phenotypes, but a formal description of phenotypic variation in the contact zone was heretofore lacking. We collected specimens across a transect encompassing the area where ranges abut and areas where only “pure” parental phenotypes of M. ornatus chrysops and M. melanocephalus ruficoronatus occur. We described variation in plumage traits including patterns of head and ventral coloration and tail markings based on 321 specimens. To describe genetic variation in the contact zone and over a broader phylogeographic context, we used sequences of the mitochondrial ND2 gene for 219 individuals across the transect and the entire range of both species, including all subspecies, from Venezuela to Bolivia. We documented a hybrid zone ~200 km wide based on head coloration, where intermediate plumage phenotypes are most common and “pure” forms do not overlap geographically, consistent with extensive hybridization. Across the range of the M. ornatus–M. melanocephalus complex, mitochondrial genetic structure was shallow, with genetic breaks only coinciding clearly with one topographic feature. Such a low genetic structure is striking given the high diversity in plumage phenotypes and the current taxonomy of the group. Our phenotypic data suggest that barriers to hybridization are not strong, and allow us to postulate hypotheses to be tested using forthcoming genomic data.

An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes

Autism spectrum disorders (ASDs) are characterized by a deficit in social communication, pathologic repetitive behaviors, restricted interests, and electroencephalogram (EEG) aberrations. While exhaustive analysis of nuclear DNA (nDNA) variation has revealed hundreds of copy number variants (CNVs) and loss-of-function (LOF) mutations, no unifying hypothesis as to the pathophysiology of ASD has yet emerged. Based on biochemical and physiological analyses, it has been hypothesized that ASD may be the result of a systemic mitochondrial deficiency with brain-specific manifestations. This proposal has been supported by recent mitochondrial DNA (mtDNA) analyses identifying both germline and somatic mtDNA variants in ASD. If mitochondrial defects do predispose to ASD, then mice with certain mtDNA mutations should present with autism endophenotypes. To test this prediction, we examined a mouse strain harboring an mtDNA ND6 gene missense mutation (P25L). This mouse manifests impaired social interactions, increased repetitive behaviors and anxiety, EEG alterations, and a decreased seizure threshold, in the absence of reduced hippocampal interneuron numbers. EEG aberrations were most pronounced in the cortex followed by the hippocampus. Aberrations in mitochondrial respiratory function and reactive oxygen species (ROS) levels were also most pronounced in the cortex followed by the hippocampus, but absent in the olfactory bulb. These data demonstrate that mild systemic mitochondrial defects can result in ASD without apparent neuroanatomical defects and that systemic mitochondrial mutations can cause tissue-specific brain defects accompanied by regional neurophysiological alterations.

The complete mitochondrial genome of longlegged spiny lobster Panulirus longipes (A. Milne Edwards, 1868)

In this study, we first determined and characterized the complete mitochondrial genome of longlegged spiny lobster Panulirus longipes from South China Sea. The P. longipes mitogenome is 15,739 bp long, and consists of 22 tRNA genes, two rRNA genes, 13 protein-coding genes (PCGs), and one control region. The nucleotide composition of P. longipes mitogenome is significantly biased (A, G, T, and C was 32.06%, 14.36%, 32.42%, and 21.16%, respectively) with A + T contents of 64.48%. Among 13 PCGs, COX1 gene used an unusual initiation codon CAA, COX1, COX2, ND4 and CYTB genes were ended with an incomplete stop codon T, and ND5 gene with an abnormal stop codon ATT. One microsatellite (C)10 was identified in P. longipes mitogenome located in the control region. Phylogenetic tree showed that P. longipes was first clustered with Panulirus cygnus, then together with P. japonicus and P. argus.

Characterization of the complete mitogenomes of Baillon's Crake Porzana pusilla and phylogenetic analysis

The complete mitochondrial genome of the Baillon's Crake Porzana pusilla (Gruiformes: Rallidae) are sequenced and annotated, which contained 37 typical genes. The length of the complete mitochondrial genome is 16,966 bp (GenBank No. MW043485), with As, Ts, Cs, Gs, and AT content of the mitochondrial genome is 32.1, 23.2, 30.9, 13.8, and 55.3%, respectively. All protein-coding genes started with ATN except COX1 and ND5, which start with GTG, and all protein-coding genes end with a complete triplet codon (TAA, AGG, AGA, and TAG), except COX3, which ends with an incomplete T. The ND3 gene of P. pusilla with an extra C nucleotide in 174 site. Phylogenetic analysis revealed that the new sequenced species of P. pusilla was closer to the clade of Porzana fusca and Porzana paykullii, and all three Porzana are clustered into one branch.

Novel gene rearrangement in the mitochondrial genome of Muraenesox cinereus and the phylogenetic relationship of Anguilliformes

The structure and gene sequence of the fish mitochondrial genome are generally considered to be conservative. However, two types of gene arrangements are found in the mitochondrial genome of Anguilliformes. In this paper, we report a complete mitogenome of Muraenesox cinereus (Anguilliformes: Muraenesocidae) with rearrangement phenomenon. The total length of the M. cinereus mitogenome was 17,673 bp, and it contained 13 protein-coding genes, two ribosomal RNAs, 22 transfer RNA genes, and two identical control regions (CRs). The mitochondrial genome of M. cinereus was obviously rearranged compared with the mitochondria of typical vertebrates. The genes ND6 and the conjoint trnE were translocated to the location between trnT and trnP, and one of the duplicated CR was translocated to the upstream of the ND6. The tandem duplication and random loss is most suitable for explaining this mitochondrial gene rearrangement. The Anguilliformes phylogenetic tree constructed based on the whole mitochondrial genome well supports Congridae non-monophyly. These results provide a basis for the future Anguilliformes mitochondrial gene arrangement characteristics and further phylogenetic research.

Complete mitochondrial genome sequence of Lepus yarkandensis Günther, 1875 (Lagomorpha, Leporidae): characterization and phylogenetic analysis.

Lepus yarkandensis is a national second-class protected animal endemic to China and distributed only in the hot and arid Tarim Basin in Xinjiang. We sequenced and described the complete mitogenome of L. yarkandensis to analyze its characteristics and phylogeny. The species’ DNA is a 17,047 bp circular molecule that includes 13 protein-coding genes (PCGs), two rRNA genes, 22 tRNA genes, and one control region. The overall base composition was as follows: A, 31.50%; T, 29.40%; G, 13.30% and C, 25.80%, with a high A+T bias of 60.9%. In the PCGs, ND6 had deviation ranges for AT skew (–0.303) and GC skew (0.636). The Ka/Ks values of ND1 (1.067) and ND6 (1.352) genes were >1, indicating positive selection, which might play an important role in the adaptation of L. yarkandensis to arid and hot environments. The conserved sequence block, the central conserved domain, and the extended termination-associated sequences of the control region and their features were identified and described. The phylogenetic tree based on the complete mitogenome showed that L. yarkandensis was closely related to the sympatric Lepus tibetanus pamirensis. These novel datasets of L. yarkandensis can supply basic data for phylogenetic studies of Lepus spp., apart from providing essential and important resource for further genetic research and the protection of this species.

Convergent Evolution of Himalayan Marmot with Some High-Altitude Animals through ND3 Protein

Simple SummaryThe Himalayan marmot (Marmota himalayana) lives on the Qinghai-Tibet Plateau and may display plateau-adapted traits similar to other high-altitude species according to the principle of convergent evolution. We assessed 20 species (marmot group (n = 11), plateau group (n = 8), and Himalayan marmot), and analyzed their sequence of CYTB gene, CYTB protein, and ND3 protein. We found that the ND3 protein of Himalayan marmot plays an important role in adaptation to life on the plateau and would show a history of convergent evolution with other high-altitude animals at the molecular level.The Himalayan marmot (Marmota himalayana) mainly lives on the Qinghai-Tibet Plateau and it adopts multiple strategies to adapt to high-altitude environments. According to the principle of convergent evolution as expressed in genes and traits, the Himalayan marmot might display similar changes to other local species at the molecular level. In this study, we obtained high-quality sequences of the CYTB gene, CYTB protein, ND3 gene, and ND3 protein of representative species (n = 20) from NCBI, and divided them into the marmot group (n = 11), the plateau group (n = 8), and the Himalayan marmot (n = 1). To explore whether plateau species have convergent evolution on the microscale level, we built a phylogenetic tree, calculated genetic distance, and analyzed the conservation and space structure of Himalayan marmot ND3 protein. The marmot group and Himalayan marmots were in the same branch of the phylogenetic tree for the CYTB gene and CYTB protein, and mean genetic distance was 0.106 and 0.055, respectively, which was significantly lower than the plateau group. However, the plateau group and the Himalayan marmot were in the same branch of the phylogenetic tree, and the genetic distance was only 10% of the marmot group for the ND3 protein, except Marmota flaviventris. In addition, some sites of the ND3 amino acid sequence of Himalayan marmots were conserved from the plateau group, but not the marmot group. This could lead to different structures and functional diversifications. These findings indicate that Himalayan marmots have adapted to the plateau environment partly through convergent evolution of the ND3 protein with other plateau animals, however, this protein is not the only strategy to adapt to high altitudes, as there may have other methods to adapt to this environment.

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

BackgroundAsthenozoospermia is a chief reason for male seminal pathologies with an impression of around 19% of infertile patients. Spermatozoa mitochondrial DNA variations seem to link with low sperm motility. The objective of the study was to assess the relation between mitochondrial mutations and male sterility, especially in asthenozoospermia. The patient semen samples were investigated by studying the sperm physical characters; motility, viability, and morphological parameters were then classified into normozoospermia and asthenozoospermia. In addition, the level of malondialdehyde (MDA) as a bio-indicator of lipid peroxidation, seminal fructose, and total antioxidant capacity (TAC) were estimated. For molecular analysis, DNA from the semen samples was extracted using a DNA extraction kit. ND1, ND2, and ATPase6 genes were amplified by using a specific primer. After the purification procedure, each PCR product was sequenced to identify the single nucleotide polymorphisms (SNPs) in selected genes. ResultsA significant negative correlation between seminal plasma malondialdehyde levels and sperm motility was detected. Meanwhile, TAC analysis revealed significantly lower activity (p ≤ 0.05) in the sample of asthenozoospermic than in normozoospermic men. As regards the seminal plasma fructose, there was no significant difference in the fructose level of normozoospermia and asthenozoospermia cases. At the molecular level, 31 diverse nucleotide substitutions were recognized in mitochondrial DNA. Only ten (10) mutations led to amino acid transformation: four have deleterious effects, four are benign, and the other two have conflicting effectiveness. ConclusionsThis study is the first in Egypt that is concerned with studying the relationship between the mitochondrial DNA mutations in human spermatozoa of asthenozoospermic patients and fertility. The results displayed scientific indications evidenced that there is an association between mitochondrial mutations and male infertility.

Variations of Mitochondrial ND4 and ND5 Genes and their Association with Temporal Lobe Epilepsy in a Northern Han Chinese Population.

Variations of Mitochondrial ND4 and ND5 Genes and their Association with Temporal Lobe Epilepsy in a Northern Han Chinese Population.