mtDNA D-loop Region Research Articles

Maternal Phylogenetics of Some Anatolian Cattle Breeds

In the current study, the mtDNA D-Loop region was analyzed in South Anatolian Red (SAR, n=51), Anatolian Black (NB, n=50), Anatolian Grey (AG, n=54), Native Southern Anatolian Yellow (NSAY, n=51), East Anatolian Red (EAR, n=54) and Zavot (ZAV, n=19) cattle breeds (n=279) to reveal diversity of mitochondrial DNA, differentiation of breeds, and relevance between genetic differentiations and geographic distributions. Blood samples were collected from native cattle breeds. Genomic DNA was isolated using a standard phenol/chloroform method. MtDNA D-loop region was amplified by PCR. After mtDNA sequence analysis, sequence of the D-Loop region was aligned with reference sequence. Haplotypes were determined and phylogenetic tree was constructed using BioEdit version 5.0.6, DNAsp version 5.10.01, MEGA 4.0 Network, Arlequin, Phylip and TreeView software. The sequence data was examined for nucleotide and haplotypes diversity, genetic distance between breeds visualized with Neighbor Joining tree and Median Joining Network, evaluated with mismatch distribution analyses, neutrality tests and AMOVA analyses. As a result in comparison with cattle breeds throughout the world, the higher nucleotide (π=0.02240, ±0.0005) and haplotype diversity (H=0.9966, ±0.0006) higher haplotype number and also high genetic variation within and between the populations were determined in native Anatolian cattle breeds. These findings support the idea that Anatolia has been situated in a central position during the domestication process of the cattle species.

Single Nucleotide Polymorphism of Mitochondrial DNA D-LOOP Region in Peripheral Blood Lymphocytes of Immuno-related Pancytopenia Patients

To explore the single nucleotide polymorphism(SNP) of mitochondrial DNA (mtDNA) D-LOOP region in peripheral blood lymphocytes of immuno-related pancytopenia (IRP) patients and its correlation with immune parameters. The D-LOOP region in mitochondrial DNA of lymphocytes in peripheral blood mononuclear cells from 43 patients with untreated IRP was detected by polymerase chain reaction(PCR). The PCR products were sequenced by the pros and cons direct sequencing methods. The sequencing results were compared with the revised Cambridge reference sequence (rCRS) and the Polymorphic Sites of Human Mitochondrial Genome Database. Among total of 110 variant positions of D-LOOP region in 43 patients, 62 was SNP sites and 48 was mutation sites, of which 14 were the new mutation sites not yet registered in the database, 516 base variations were observed at 110 positions, the most common variations were base substitutions, among them T/C and A/G was 184/410 and 113/410 respectively. In the 110 variant positions, the high frequency variation sites were 73 and 263 for 43/43,311 for 32/43,310 and 16 224 for 27/43,16 519 for 25/43, 489 and 16 362 for 24/43. By the analysis of mitochondrial DNA D-LOOP polymorphism and related clinical immunology indicators of the patient's lymphocytes, it was found that D-loop in adult patients (age≥ 18 years old) significantly correlated with CD15 IgM, GLYCoA+ Cells IgM, CD34+ CellsIgG, CD34+ Cells IgM correlation. The high frequency of polymorphism exists in mitochondrial DNA D-loop region of lymphocytes in IRPA patients, and was significantly correlates with the autoantibodies in bone marrow mononuclear cells in adult patients, which may be associated with the IRP occurrence.

Population structure and genetic diversity of Sinibrama macrops from Ou River and Ling River based on mtDNA D-loop region analysis, China

In order to understand the influence of human activities such as habitat fragmentation on freshwater fish population evolution, we investigated and compared the genetic diversity and phylogeography of Sinibrama macrops populations in the Oujiang River and Ling River. Mitochondrial control region sequences (D-loop region) of 131 specimens from six populations were obtained and analyzed. The diversity of main stream in the Ou River was lower than that in Ling River. Changtan population showed the lowest diversity (H = 0.646 ± 0.077; π = 0.00060 ± 0.00820). Pairwise FST, gene flow (Nm), and genetic distance (Da) indicated that Longquan and Changtan significantly differentiate from other populations. Nested clade phylogeographical analysis (NCPA) showed some clades and total cladogram experienced isolation by distance. In conclusion, the populations from severely fragmented Ou River have the lower diversity and more intense differentiation than that from the mainstream of Ling River, Changtan population present the lowest diversity and were isolated by the dam construction.

Mitochondrial D-loop analysis for uncovering the population structure and genetic diversity among the indigenous duck (Anas platyrhynchos) populations of India

The indigenous domestic duck (Anas platyrhynchos domestica) which is domesticated from Mallard (Anas platyrhynchos) contributes significantly to poor farming community in coastal and North Eastern regions of India. For conservation and maintenance of indigenous duck populations it is very important to know the existing genetic diversity and population structure. To unravel the population structure and genetic diversity among the five indigenous duck populations of India, the mitochondrial D-loop sequences of 120 ducks were analyzed. The sequence analysis by comparison of mtDNA D-loop region (470 bp) of five Indian duck populations revealed 25 mitochondrial haplotypes. Pairwise FST value among populations was 0.4243 (p < .01) and the range of nucleotide substitution per site (Dxy) between the five Indian duck populations was 0.00034–0.00555, and the net divergence (Da) was 0–0.00355. The phylogenetic analysis in the present study unveiled three clades. The analysis revealed genetic continuity among ducks of coastal region of the country which formed a separate group from the ducks of the inland area. Both coastal as well as the land birds revealed introgression of the out group breed Khaki Campbell, which is used for breed improvement programs in India. The observations revealed very less selection and a single matrilineal lineage of indigenous domestic ducks.

In ovo injection of betaine alleviates corticosterone-induced fatty liver in chickens through epigenetic modifications

Betaine alleviates high-fat diet-induced fatty liver and prenatal betaine programs offspring hepatic lipid metabolism. Excessive corticosterone (CORT) exposure causes fatty liver in chickens, yet it remains unknown whether and how prenatal betaine modulates the susceptibility of CORT-induced fatty liver later in life. In this study, fertilized eggs were injected with saline or betaine before incubation, and the hatchlings were raised at 8 weeks of age followed by 7 days of subcutaneous CORT injection. CORT-induced fatty liver was less severe in betaine-treated chickens, with significantly reduced oil-red staining and hepatic triglyceride content (P < 0.05). The protective effect of prenatal betaine was associated with significantly up-regulated expression of PPARα and CPT1α, as well as mitochondrial DNA (mtDNA)-encoded genes (P < 0.05). Moreover, betaine rescued CORT-induced alterations in methionine cycle genes, which coincided with modifications of CpG methylation on CPT1α gene promoter and mtDNA D-loop regions. Furthermore, the elevation of hepatic GR protein content after CORT treatment was significantly reduced (P < 0.05), while the reduction of GR binding to the control region of affected genes was significantly increased (P < 0.05), in betaine-treated chickens. These results indicate that in ovo betaine injection protects the juvenile chickens from CORT-induced fatty liver.

Distinct matrilines in the panmictic population of the European eelAnguilla anguilla?

Determining the genetic population structure and intraspecific evolution of species is important for efficient management. Here we investigated 394 sequences of the mtDNA cyt b of the critically endangered European eel, Anguilla anguilla . We found 62 different haplotypes, among which 32 novel ones. All those sequences were grouped into 9 haplogroups on the basis of their frequency and links in the haplotype network. Two pairwise comparisons revealed significant genetic differentiation between regions. One comparison indicated small (ΦST = 0.02768; P = 0.0071) genetic differentiation between the Atlantic Ocean and the North Sea. Another comparison indicated small (ΦST = 0.01144; P = 0.0440) genetic differentiation between eel samples caught in the Baltic Sea, the Curonian Lagoon and the Gulf of Riga and those captured in the North Sea. The results of the study are in agreement with the recent findings obtained using the mtDNA D-loop region as a molecular marker, indicating that although A. anguilla is considered a panmictic species the genetic structure of its population indicated by mtDNA markers could be characterized as a genetic mosaic.

Molecular Characterization of Mitochondrial D Loop of Indian Red Jungle Fowl

Mitochondrial DNA has the characteristic of quick evolution, matrilineal inheritance, and simple molecular structure, and it serves as the most used marker for molecular study. As an important role of genomics, studying it can help understand the origins, history, and adaptation of domestication. A 1325 bp fragment of the mtDNA D-loop region was amplified, sequenced and phylogenetic study was done. Out of 400 sites about 12 % were polymorphic between the Gallus gallus (G.g.) subspecies and most of them (60%) were transitions. Indian RJF showed very low genetic distances (0.008-0.013) with G.g. gallus birds from Thailand as compared to those from Japan and Indonesia. The G.g. murghi showed comparatively high genetic distance i.e. 031-0.034 with G.g. spadiceus and from 0.061-0.066 with G. gallus bankiva. The phylogenetic tree showed that G.g. banikva is well separated from the other three subspecies as it made a separate cluster. G.g. gallus makes two separate clusters i.e. one those from Thailand and other those from Japan and Indonesia. Within each chicken breed, there is an excess of homozygosity, but there is no significant reduction in the nucleotide diversity. Phenotypic modifications of chicken breeds as a result of artificial selection appear to stem from ancestral polymorphisms at a limited number of genetic loci.

Phylogeography, genetic diversity and demographic history of the Iranian Kurdish groups based on mtDNA sequences.

Throughout the history of modern humans, the current Kurdish-inhabited area has served as part of a tricontinental crossroad for major human migrations. Also, a significant body of archaeological evidence points to this area as the site of Neolithic transition. To investigate the phylogeography, origins and demographic history, mtDNA D-loop region of individuals representing four Kurdish groups from Iran were analysed. Our data indicated that most of the Kurds mtDNA lineages belong to branches of the haplogroups with the Western Eurasian origin; with small fractions of the Eastern Eurasian and sub-Saharan African lineages. The low level of mtDNA diversity observed in the Havrami group presented a bias towards isolation or increased drift due to small population size; while in the Kurmanji group it indicated a bias towards drift or mass migration events during the 5-18th century AD. The Mantel test showed strong isolation by distance, and AMOVA results for global and regional scales confirmed that the geography had acted as the main driving force in shaping the current pattern of mtDNA diversity, rather than linguistic similarity. The results of demographic analyses, in agreement with archaeological data, revealed a recent expansion of the Kurds (~9,500 years before present) related to the Neolithic transition from hunting and gathering, to farming and cattle breeding in the Near East. Further, the high frequencies of typical haplogroups for early farmers (H; 37.1%) and hunter-gatherers (U; 13.8%) in the Kurds may testify the earlier hunter-gatherers in the Kurdish-inhabited area that adopted and admixed the Kurds ancestors following the Neolithic transition.

Phylogenetic and morphometric relationships between two species of genus Auxis from the South China Sea and Java Sea

This study was aimed at examining the phylogenetic and morphometric relationship of frigate tuna (Auxis thazard) and bullet tuna (Auxis rochei) using mtDNA D-loop (control) region sequences and truss measurements, respectively. Maximum-likelihood (ML) tree and median-joining network showed that haplotypes from Auxis populations grouped separately. Discriminant function analyses and non-metric multidimensional scaling of morphometric data showed that bullet and frigate tuna were differed mainly with respect to truss measurements on the anterior region, suggesting adaptation to different diets available in different environments. Historic demographic analyses of sequence data showed that both bullet and frigate tuna had not undergone a significant sudden population expansion recently. Non-significant value of Tajimas’s D and Fu’s FS were indicated an effective large and stable population size for longer period of both species in South China Sea and Java Sea species. This study gives first report on the complementary relationship between morphometric and genetic analysis in stock discrimination of genus Auxis.

Protocol optimization of eDNA analysis workflow for detecting Hucho bleekeri.

Environmental DNA (eDNA) analysis in water, consisting of water sample collection, DNA extraction and analysis, is increasingly important in detecting rare aquatic species and determining their distribution. Optimization of protocols used in an eDNA molecular workflow is critical to reduce its uncertainty in detecting target species, especially rare species. In this study, 250 mL, 500 mL, 1 L and 2 L water samples were collected by filtering method from a pond for Sichuan taimen (Hucho bleekeri) culture, followed by extraction and purification of eDNA using DNeasy Tissue and Blood DNA extraction kit or MoBio Power Water DNA extraction kit. A PCR procedure was then applied using specific primers from the D-loop region of mtDNA in Sichuan taimen. To explore an appropriate eDNA analysis protocol, the effect of filtering method, sample size and extraction protocols on the detection rate of target gene in water eDNA was studied. The results showed that the target gene was 100% detected from the water sample by using DNeasy Tissue and Blood DNA extraction kit, which was much better that the MoBio Power Water DNA extraction kit with a detection rate of 0%. Larger volume of water samples yielded better PCR products, with 2 L being the most appropriate volume. Sequence alignment results showed that target sequence from the D-loop region of mtDNA in Sichuan taimen was successfully amplified. The results indicated that DNA extracting method and water sample volume could strongly affect the detection rate. The protocol combining filtration, 2 L water sample, DNeasy Tissue and Blood DNA extraction kit was appropriate for eDNA analysis, and mtDNA D-loop region was recommended for detecting DNA of Sichuan taimen from water samples.

Identification of mitochondrial DNA transfer in canine transmissible venereal tumours obtained from dogs in Mexico

Canine transmissible venereal tumour (CTVT) has been transmitted by cell transplantation from dog to dog, for over 10 000 years. Although initial studies report a single genetic origin for CTVT, recent samples from around the world reveal high genetic diversity. An elevated number of polymorphisms have been determined in mitochondrial DNA (mtDNA) of CTVT. The recent discovery of mtDNA transference from the host into tumoural cells could be a novel source of genetic diversity in CTVT. The aim of this study was to determine the presence of host mtDNA in samples of CTVT in Mexican dogs. Genotyping of 49 samples of CTVT and 49 samples of blood cells pertaining to affected dogs was performed by direct sequencing from the mtDNA D-loop region. Exogenous mtDNA was observed in 6% of the analysed tumours. This is the first investigation reporting the prevalence of exogenous mtDNA in CTVT in the Mexican dog population.

Associations between sequence variations in the mitochondrial DNA D-loop region and outcome of hepatocellular carcinoma.

The association between mitochondrial DNA (mtDNA) polymorphisms or mutations and the prognoses of cancer have been investigated previously, but the results have been ambiguous. In the present study, the associations between sequence variations in the mtDNA D-loop region and the outcomes of patients with hepatocellular carcinoma (HCC) were analysed. A total of 140 patients with HCC (123 males and 17 females), who were hospitalised to undergo radical resection, were studied. Polymerase chain reaction and direct sequencing were performed to detect the sequence variations in the mtDNA D-loop region. Multivariate and univariate analyses were conducted to determine important factors in the prognosis of HCC. A total of 150 point sequence variations were observed in the 140 cases (13 point mutations, 8 insertions, 20 deletions and 116 polymorphisms). The variation rate was 13.4% (150/1, 122). mtDNA nucleotide 150 (C/T) was an independent factor in the logistic regression for early/late recurrence of HCC. Patients with 150T appeared to have later recurrences. In a Cox proportional hazards regression model, hepatitis B virus DNA, Child-Pugh class, differentiation degree, tumour-node-metastasis (TNM) stage, nucleotide 16263 (T/C) and nucleotide 315 (N/insertion C) were independent factors for tumour-free survival time. Patients with the 16263T allele had a greater tumour-free survival time than patients with the 16263C allele. Similarly, patients with 315 insertion C had a superior tumour-free survival time when compared with patients with 315 N (normal). In the Cox proportional hazards regression model, recurrence type (early/late), Child-Pugh class, TNM stage and adjuvant treatment after tumour recurrence (none or one/more than one treatment) were independent factors for overall survival. None of the mtDNA variations served as independent factors. Patients with late recurrence, Child-Pugh class A, and low TNM stages and/or those who received more than one adjuvant treatment following tumour recurrence had favourable outcomes. mtDNA D-loop polymorphisms were associated with early recurrence and tumour-free survival time, but not with overall survival. mtDNA D-loop mutations in HCC were infrequent and lacked prognostic utility. The detection of mtDNA D-loop polymorphisms may assist in identifying risk factors for HCC prognosis, particularly for the short-term outcome, thereby aiding the construction of an appropriate therapeutic strategy.

Phylogenetic relationships of Scomberomorus commerson using sequence analysis of the mtDNA D-loop region in the Persian Gulf, Oman Sea and Arabian Sea

Narrow-barred Spanish mackerel, Scomberomorus commerson, is an epipelagic and migratory species of family Scombridae which have a significant role in terms of ecology and fishery. 100 samples were collected from the Persian Gulf, Oman Sea and Arabian Sea. Part of their dorsal fins was snipped and transferred to micro-tubes containing ethanol; then, DNAs were extracted and HRM-Real Time PCR was performed to designate representative specimens for sequencing. Phylogenetic relationships of S. commerson from Persian Gulf, Oman Sea and Arabian Sea were investigated using sequence data of mitochondrial DNA D-loop region. None clustered Neighbor Joining tree indicated the proximity amid S. commerson in four sites. As numbers demonstrated in sequence analyses of mitochondrial DNA D-Loop region a sublimely high degree of genetic similarity among S. commerson from the Persian Gulf and Oman Sea were perceived, thereafter, having one stock structure of S. commerson in four regions were proved, and this approximation can be merely justified by their migration process along the coasts of Oman Sea and Persian Gulf. Therefore, the assessment of distribution patterns of 20 haplotypes in the constructed phylogenetic tree using mtDNA D-Loop sequences ascertained that no significant clustering according to the sampling sites was concluded.

Genetic diversity of Guangxi chicken breeds assessed with microsatellites and the mitochondrial DNA D-loop region

The domestic chicken (Gallus gallus domesticus) is an excellent model for genetic studies of phenotypic diversity. The Guangxi Region of China possesses several native chicken breeds displaying a broad range of phenotypes well adapted to the extreme hot-and-wet environments in the region. We thus evaluated the genetic diversity and relationships among six native chicken populations of the Guangxi region and also evaluated two commercial breeds (Arbor Acres and Roman chickens). We analyzed the sequences of the D-loop region of the mitochondrial DNA (mtDNA) and 18 microsatellite loci of 280 blood samples from six Guangxi native chicken breeds and from Arbor Acres and Roman chickens, and used the neighbor-joining method to construct the phylogenetic tree of these eight breeds. Our results showed that the genetic diversity of Guangxi native breeds was relatively rich. The phylogenetic tree using the unweighed pair-group method with arithmetic means (UPGAM) on microsatellite marks revealed two main clusters. Arbor Acres chicken and Roman chicken were in one cluster, while the Guangxi breeds were in the other cluster. Moreover, the UPGAM tree of Guangxi native breeds based on microsatellite loci was more consistent with the genesis, breeding history, differentiation and location than the mtDNA D-loop region. STRUCTURE analysis further confirmed the genetic structure of Guangxi native breeds in the Neighbor-Net dendrogram. The nomenclature of mtDNA sequence polymorphisms suggests that the Guangxi native chickens are distributed across four clades, but most of them are clustered in two main clades (B and E), with the other haplotypes within the clades A and C. The Guangxi native breeds revealed abundant genetic diversity not only on microsatellite loci but also on mtDNA D-loop region, and contained multiple maternal lineages, including one from China and another from Europe or the Middle East.

Genetic Diversity and Phylogenetic Analysis of South-East Asian Duck Populations Based on the mtDNA D-loop Sequences.

The maternally inherited mitochondrial DNA (mtDNA) D–loop region is widely used for exploring genetic relationships and for investigating the origin of various animal species. Currently, domestic ducks play an important role in animal protein supply. In this study, partial mtDNA D–loop sequences were obtained from 145 samples belonging to six South-East Asian duck populations and commercial duck population. All these populations were closely related to the mallard duck (Anas platyrhynchos), as indicated by their mean overall genetic distance. Sixteen nucleotide substitutions were identified in sequence analyses allowing the distinction of 28 haplotypes. Around 42.76% of the duck sequences were classified as Hap_02, which completely matched with Anas platyrhynchos duck species. The neighbor-joining phylogenetic tree also revealed that South-East Asian duck populations were closely related to Anas platyrhynchos. Network profiles were also traced using the 28 haplotypes. Overall, results showed that those duck populations D-loop haplotypes were shared between several duck breeds from Korea and Bangladesh sub continental regions. Therefore, these results confirmed that South-East Asian domestic duck populations have been domesticated from Anas platyrhynchos duck as the maternal origins.

Mitochondrial Diversity and Time Divergence of Commonly Cultured Cichlids in Nigeria

Aim: The aims are to study the genetic diversity and population structure of Tilapia fish species in Nigeria using mtDNA D-loop region and time divergence of these various groups of fish to give a baseline information for fish management and conservation programs. Methodology: Blood samples from four species of tilapia were collected with the use of FTA cards for DNA extraction and PCR amplification. A 941bp long fragment, including the D-loop, was subsequently used for analysis. Molecular diversity indices and Tajima’s selective test were determined. A phylogenetic tree was constructed for all the four fish species using UPGMA. The divergence time among the four fish species using MEGA5 software.

Altered Mitochondrial DNA Methylation Pattern in Alzheimer Disease–Related Pathology and in Parkinson Disease

Mitochondrial dysfunction is linked with the etiopathogenesis of Alzheimer disease and Parkinson disease. Mitochondria are intracellular organelles essential for cell viability and are characterized by the presence of the mitochondrial (mt)DNA. DNA methylation is a well-known epigenetic mechanism that regulates nuclear gene transcription. However, mtDNA methylation is not the subject of the same research attention. The present study shows the presence of mitochondrial 5-methylcytosine in CpG and non-CpG sites in the entorhinal cortex and substantia nigra of control human postmortem brains, using the 454 GS FLX Titanium pyrosequencer. Moreover, increased mitochondrial 5-methylcytosine levels are found in the D-loop region of mtDNA in the entorhinal cortex in brain samples with Alzheimer disease-related pathology (stages I to II and stages III to IV of Braak and Braak; n = 8) with respect to control cases. Interestingly, this region shows a dynamic pattern in the content of mitochondrial 5-methylcytosine in amyloid precursor protein/presenilin 1 mice along with Alzheimer disease pathology progression (3, 6, and 12 months of age). Finally, a loss of mitochondrial 5-methylcytosine levels in the D-loop region is found in the substantia nigra in Parkinson disease (n = 10) with respect to control cases. In summary, the present findings suggest mtDNA epigenetic modulation in human brain is vulnerable to neurodegenerative disease states.

Genetic diversity and population structure of Kazakh horses (Equus caballus) inferred from mtDNA sequences.

The Kazakh horse is an important old horse breed in Xinjiang. They have contributed greatly to the breeding and improvement of other local horse breeds, yet their genetic diversity and population structure are not well understood. In the present study, we evaluated the genetic diversity of Kazakh horses and their relationship with other horse breeds using the mtDNA D-loop region, Cyt b gene, and a DNA fragment (nps 7974-9963, containing COX3, tRNA-Gly, ND3, and tRNA-Arg). A total of 130 Kazakh horses from 8 populations in China and Kazakhstan were analyzed. A total of 88 haplotypes (haplotype diversity: 0.9895) were identified, in which 3 haplotypes were shared by groups in the two countries. In a median-joining network, 6 haplogroups were found, in which most haplogroups included haplotypes from different populations. Neighbor-joining analysis revealed similar results in that haplotypes in different populations were admixed in most of the 6 clusters. In conclusion, a high level of genetic diversity was found in the Kazakh horses. However, no clear correspondence between haplogroups and geographic origin and no significant differentiation between populations in the two countries were observed. This might have resulted from the frequent contact between the two countries through the Silk Road in the past, or due to long-term outcrossing and hybridization with the introduced horses.

ADVANCEMENT REPORT ON POPULATION GENETIC STUDY OF BROWN HARE POPULATIONS IN CENTRAL AND EASTERN EUROPEAN REGION

The brown hare is present all over Europe from Spain to Asia Minor and is an important game species which makes it a reasonable subject for population genetic investigations. The purpose of our study is to gather data on the genetic diversity of Central and Eastern European brown hare populations with the aim of revealing the genetic history of the species in the studied region, from which data are scarce despite the fact that the species is well-studied on the whole continent. In our research mtDNA cytb and D-loop regions along with the MC1R and ASIP genes are studied. Samples from Hungary (n=14) and Serbia (n=36) have already been sequenced and analysed for the D-loop region. Based on a 411 bp mtDNA D-loop alignment we have found a high level of haplotype diversity (Hd=0.958) with an overall 30 haplotypes, and the nucleotide diversity of π= 0.0167. Our first results show high genetic diversity for the brown hare in the studied region and indicate genetic distinction among the studied populations although these results need confirmation by further studies.

Maternal Betaine Supplementation during Gestation Enhances Expression of mtDNA-Encoded Genes through D-Loop DNA Hypomethylation in the Skeletal Muscle of Newborn Piglets.

Betaine has been widely used in animal and human nutrition to promote muscle growth and performance, yet it remains unknown whether maternal betaine supplementation during gestation affects the metabolic characteristics of neonatal skeletal muscles. In the present study, feeding sows with betaine-supplemented diets throughout gestation significantly upregulated the expression of mtDNA-encoded OXPHOS genes (p < 0.05), including COX1, COX2, and ND5, in the muscle of newborn piglets, which was associated with enhanced mitochondrial COX enzyme activity (p < 0.05). Concurrently, maternal betaine supplementation increased the plasma betaine concentration and muscle expression of methyl transfer enzymes (p < 0.05), BHMT and GNMT, in offspring piglets. Nevertheless, Dnmt3a was downregulated at the level of both mRNA and protein, which was associated with a hypomethylated mtDNA D-loop region (p < 0.05). These results suggest that maternal betaine supplementation during gestation enhances expression of mtDNA-encoded genes through D-loop DNA hypomethylation in the skeletal muscle of newborn piglets.