Abstract
Background
   Skeletal muscle development plays a crucial role in yield and quality
   of pork; however, this process is influenced by various factors. In
   this study, we employed whole-genome bisulfite sequencing (WGBS) and
   transcriptome sequencing to comprehensively investigate the longissimus
   dorsi muscle (LDM), aiming to identify key genes that impact the growth
   and development of Duroc pigs with different average daily gains
   (ADGs).
Results
   Eight pigs were selected and divided into two groups based on ADGs: H
   (774.89 g) group and L (658.77 g) group. Each pair of the H and L
   groups were half-siblings. The results of methylation sequencing
   revealed 2631 differentially methylated genes (DMGs) involved in
   metabolic processes, signalling, insulin secretion, and other
   biological activities. Furthermore, a joint analysis was conducted on
   these DMGs and the differentially expressed genes (DEGs) obtained from
   transcriptome sequencing of the same individual. This analysis
   identified 316 differentially methylated and differentially expressed
   genes (DMEGs), including 18 DMEGs in promoter regions and 294 DMEGs in
   gene body regions. Finally, LPAR1 and MEF2C were selected as candidate
   genes associated with muscle development. Bisulfite sequencing PCR
   (BSP) and quantitative real-time PCR (qRT–PCR) revealed that the
   promoter region of LPAR1 exhibited significantly lower methylation
   levels (P < 0.05) and greater expression levels (P < 0.05) in the H
   group than in the L group. Additionally, hypermethylation was observed
   in the gene body region of MEF2C, as was a low expression level, in the
   H group (P < 0.05).
Conclusions
   These results suggest that the differences in the ADGs of Duroc pigs
   fed the same diet may be influenced by the methylation levels and
   expression levels of genes related to skeletal muscle development.
Supplementary Information
   The online version contains supplementary material available at
   10.1186/s12864-024-10404-0.
   Keywords: Duroc pigs, WGBS, DNA methylome, Transcriptome, Skeletal
   muscle
Introduction
   The Duroc pig, which was first discovered in South America in the
   1960s, has rapidly become popular and blue is one of the top lean pig
   breeds worldwide [[37]1]. This species has outstanding qualities, such
   as a rapid growth rate, high feed conversion efficiency, and excellent
   meat yield [[38]2–[39]4], and is often used as a terminal sire when
   fattening pigs are produced. However, the growth performance of Duroc
   pigs gradually declines after they reach 110 kg body weight. Selecting
   Duroc pigs that can maintain good growth and meat production
   performance from 110 kg to 130 kg will substantially increase the
   economic benefits of pig farming.
   The largest tissue in mammals, skeletal muscle, which comprises 40% of
   the body, is essential for locomotor activity, energy expenditure, and
   meat production performance [[40]5, [41]6]. The amount and quality of
   meat produced are strongly based on the development and physical
   properties of the muscle since it is a crucial end product of livestock
   production [[42]7]. Therefore, exploring the mechanisms underlying
   skeletal muscle growth and development is essential for increasing
   livestock production performance.
   However, skeletal muscle development is influenced by genetic and
   nutritional factors and a range of intricate epigenetic regulatory
   mechanisms, such as DNA methylation. DNA methylation is an epigenetic
   marker that is crucial for regulating genomic function and maintaining
   normal mammalian development by controlling gene activity and other
   regulatory factors [[43]8, [44]9]. As research on DNA methylation has
   intensified, numerous studies have highlighted its impact on muscle
   growth and development in livestock [[45]10–[46]12]. DNA methylation
   levels vary throughout different stages of skeletal muscle development
   in pigs and gradually decrease as pig embryos grow and develop
   [[47]13]. Furthermore, DNA methylation differs across pig breeds,
   revealing correlations with skeletal muscle growth and development
   [[48]14, [49]15]. However, further DNA methylation studies in siblings
   or half-siblings of pigs are needed.
   This study aimed to achieve the following objectives: 1) To select the
   LDM of sibling and half-sibling Duroc pigs and perform a comprehensive
   analysis of the global DNA methylation levels in the H (high ADG) and L
   (low ADG) groups using WGBS (whole-genome bisulfite sequencing). 2) To
   identify DMRs (differentially methylated regions) and DMGs
   (DMR-associated genes) in the two comparison groups. 3) To analyse the
   DNA methylome and transcriptome of LDMs in Duroc pigs, identify genes
   associated with growth and development, and determine their expression
   and methylation levels.
Results
Genome-wide DNA methylation profiling and patterns
   To investigate the DNA methylation patterns of LDMs in Duroc pigs, we
   utilized single-base resolution WGBS [[50]16] to assess global DNA
   methylation levels in both the H and L groups. After removing adapter
   contaminants, low-quality reads, and reads containing Ns, we collected
   490,435,608 to 669,644,232 clean reads from each of the eight DNA
   library samples (Table [51]1). The mapping ratio of clean reads to the
   Duroc pig genome ranged from 86.45% to 87.26% for all eight models. The
   sequencing data were ready for further analysis, with sequencing depths
   reaching 28.01 (H) and 31.36 (L). The bisulfite conversion efficiency
   ranged from 99.00% to 99.04% per sample (Table [52]1).
Table 1.
   Summary of genome-wide methylation sequencing data
   Samples Clean reads Mapped reads Mapped ratio (%) Genome size Sequence
   depth BS Conversion (%)
   H1 595191668 519358211 87.26 2488630688 31.3 99.04%
   H2 490435608 427408324 87.15 2488630688 25.76 99.02%
   H3 514939188 446151742 86.64 2488630688 26.89 99.02%
   H4 536252010 466334203 86.96 2488630688 28.11 99.00%
   L1 525286770 454122700 86.45 2488630688 27.37 99.02%
   L2 669644232 580918741 86.75 2488630688 35.01 99.03%
   L3 600987034 522532244 86.95 2488630688 31.5 99.02%
   L4 605375476 523792647 86.52 2488630688 31.57 99.04%
   [53]Open in a new tab
   Over 80% of the whole-genome loci had a coverage depth of 10x or more
   (Fig. [54]1A), with most of the loci having a coverage depth of 10-30x,
   resulting in a standard distribution (Fig. [55]1B). These findings
   indicated high coverage of individual loci, a wide sequencing range,
   and credible results.
Fig. 1.
   [56]Fig. 1
   [57]Open in a new tab
   A Cumulative genomic distribution of the H (high ADG) and L (low ADG)
   groups of LDMs of Duroc pigs at 110-130 kg. B Genome coverage
   distribution of the H and L groups
   Our investigation of the distribution of mCs in three sequence contexts
   revealed that CG methylation was the most prevalent form of methylation
   in all the samples, occurring less frequently in the CHH and CHG
   sequences (Fig. [58]2A). The proportions of these three methylation
   forms remained relatively stable across all eight samples. While CG
   methylation levels were greater than 90% in most examples, CHG and CHH
   methylation levels ranged between 1.62% and 6.80% (Fig. [59]2A).
   Furthermore, to examine the methylation distribution in different
   genetic regions, we evaluated the methylation levels of mCG, mCHG, and
   mCHH in the gene-body, upstream, and downstream areas of the H and L
   groups. On a genome-wide scale, we observed similar methylation
   profiles for mCHG/CHG and mCHH/CHH in all regions (Fig. [60]2B).
   However, from the upstream region to the gene body and downstream
   areas, the methylation level of mCG decreased and then increased before
   levelling off.
Fig. 2.
   [61]Fig. 2
   [62]Open in a new tab
   DNA methylation patterns in Duroc pig LDMs. A The proportions of mCs
   (mCG, mCHG, and mCHH) in the H and L groups. B The mCG, mCHG, and mCHH
   methylation levels in different sequence regions in the H and L groups.
   C Correlation analysis of methylation levels between samples from the
   two groups. D Principal component analysis of all samples
   Pearson correlation analysis and Principal Component Analysis (PCA)
   were used to assess the similarity of the eight LDM samples. Pearson
   correlation analysis of the CpG bases suggested that a high correlation
   across all samples(r> 0.79) (Fig. [63]2C). Furthermore, PCA revealed no
   significant distinction between the sample groups, as they did not form
   separate clusters (Fig. [64]2D).
Identification of DMRs
   The genomic regions with different DNA methylation levels in the H and
   L groups were identified. In total, we identified 9450 DMRs: 6368
   hyper-DMRs and 3082 hypo-DMRs (Fig. [65]3). Among the mCG methylation
   types, 6365 DMRs were increased, and 3080 DMRs were decreased. For the
   mCHG methylation type, only one DMR was decreased. Among the mCHH
   methylation types, two DMRs were increased, and eight were decreased.
   Finally, for the mC methylation types, one DMR was increased, and two
   DMRs were decreased. Detailed information on these DMRs is shown in
   Supplementary Table 1.
Fig. 3.
   [66]Fig. 3
   [67]Open in a new tab
   Number of DMRs in the H vs L group (P < 0.05)
   To investigate the distribution of differential methylation across the
   genome, we calculated the density of DMRs in 100-kb windows (Fig.
   [68]4). Our analysis revealed the presence of DMRs on each chromosome.
   Specifically, among the 9445 DMRs (mCG methylation type) (P < 0.05,
   difference
   [MATH: ≥15% :MATH]
   ) in the H vs L group, 6365 hyper-DMRs showed the greatest enrichment
   on chromosomes 6 ([69]NC_010448.4), 1 ([70]NC_010443.5), and X
   ([71]NC_010461.5). In contrast, 3080 hypo-DMRs showed the greatest
   enrichment on chromosomes 1 ([72]NC_010443.5), 6 ([73]NC_010448.4), and
   X ([74]NC_010461.5).
Fig. 4.
   [75]Fig. 4
   [76]Open in a new tab
   Distribution of DNA methylation on the Duroc pig chromosome. DMR
   density was calculated in 100-kb windows across the genome. The height
   of the column indicates the number of DMRs in each window. Hyper-DMRs
   are shown in the red column. Hypo-DMRs are shown as green columns
GO and KEGG pathway enrichment analysis of DMR-related genes
   We performed GO and KEGG pathway enrichment analyses to determine the
   potential functions of the DMGs. Our results showed that the DMGs were
   significantly enriched in several GO terms related to biological
   processes, cellular components, and molecular functions (Fig. [77]5 and
   Supplementary Table 2). Specifically, the top ten enriched GO terms
   were cell (1762), cell part (1762), anatomical structure development
   (726), single-organism developmental process (763), developmental
   process (768), plasma membrane (567), cell periphery (581), binding
   (1779), cellular process (1929), single-multicellular organism process
   (762) and system development (593). In addition, we found that the DMGs
   were significantly enriched in several GO terms associated with muscle
   development, including actin cytoskeleton organization (112), actin
   filament-based process (120), muscle structure development (82), actin
   filament organization (69), and muscle tissue development (60).
   Furthermore, KEGG pathway enrichment analysis was performed. A total of
   45 KEGG terms were significantly enriched (Fig. [78]6, Supplementary
   Table 3). The five most highly represented pathways were glutamatergic
   synapses (37), axon guidance (49), focal adhesion (50), axon
   regeneration (28), and morphine addiction (28).
Fig. 5.
   [79]Fig. 5
   [80]Open in a new tab
   GO enrichment analysis of DMGs (those were annotated to different GO
   terms in biological process, cellular component, and molecular
   function) in the H vs L group
Fig. 6.
   [81]Fig. 6
   [82]Open in a new tab
   KEGG enrichment analysis of DMGs (those were annotated to different
   pathways) in the H vs L group
Integrated analysis of DMGs and DEGs
   To further elucidate the relationship between DNA methylation and gene
   expression during late growth and development in Duroc pigs, we
   conducted a comprehensive analysis of the DNA methylome and
   transcriptome of the LDM in our laboratory [[83]17]. A Venn diagram
   analysis of the DEGs and DMGs in the H vs L comparison group revealed
   316 overlapping genes (Fig. [84]7A, Supplementary Table 4). Among the
   316 overlapping genes, the DMRs of 18, 294, and 22 genes were located
   upstream (Fig. [85]7B), in the gene body (Fig. [86]7C) and downstream
   (Fig. [87]7D), respectively. For example, LPAR1 in the H group showed
   hypomethylation in upstream and gene-body regions compared with that in
   the L group. MEF2C in demonstrated greater expression and
   hypermethylation in the gene-body region in the H group than in the L
   group. Additionally, SLIT3 expression was significantly downregulated,
   and the methylation levels of DMRs located in the downstream region
   were significantly increased.
Fig. 7.
   [88]Fig. 7
   [89]Open in a new tab
   Venn diagram analysis of DMGs and DEGs. A The number of overlapping
   DEGs in the DNA methylome and transcriptome. B The number of
   overlapping DEGs upstream. C The number of overlapping DEGs in the gene
   body. D The number of overlapping DEGs downstream. All DEGs were
   determined based on statistical significance at < 0.05
Validation of DNA methylomic and transcriptomic data
   We conducted BSP (bisulfite sequencing PCR) and qRT–PCR (quantitative
   real-time PCR) analyses of LPAR1 and MEF2C to validate the findings
   from the DNA methylome and transcriptome analyses. The BSP and DNA
   methylome analyses confirmed that the DNA methylation level of LPAR1 in
   the gene promoter was significantly lower in the H group than in the L
   group (Figs. [90]8A and [91]9A). Additionally, qRT–PCR analysis
   indicated that the expression level of LPAR1 was significantly greater
   in the H group than in the L group (P < 0.05) (Fig. [92]9B). DNA
   methylome analysis revealed that the DNA methylation level of MEF2C in
   the gene-body region was significantly greater in the H group than in
   the L group (Fig. [93]8B). Additionally, the BSP results indicated that
   the DNA methylation level of MEF2C in the gene-body region was slightly
   greater in the H group than in the L group (Fig. [94]10A). Moreover,
   qRT–PCR analysis demonstrated that the expression level of MEF2C was
   significantly greater in the H group than in the L group (P <
   0.05)(Fig. [95]10B).
Fig. 8.
   [96]Fig. 8
   [97]Open in a new tab
   The methylation levels of LPAR1 and MEF2C in the gene region with 3 kb
   flanking regions of the two groups. The heights of the bars represent
   the methylation percentages for the H (red) and L (blue) groups. The
   green and red boxes indicate significant hypomethylation and
   hypermethylation, respectively (P < 0.05). The X-axes indicate the
   position on the scaffolds (middle). The gene structures are shown on
   the bottom, with the closed boxes representing exons
Fig. 9.
   [98]Fig. 9
   [99]Open in a new tab
   A Upstream methylation pattern of LPAR1 in the LDMs of Duroc pigs. Open
   and filled circles denote unmethylated or methylated positions,
   respectively. B The relative expression level of LPAR1 in the LDMs of
   Duroc pigs determined via qRT–PCR. The data are shown as the mean ±
   S.E. (n = 4). *, P < 0.05
Fig. 10.
   [100]Fig. 10
   [101]Open in a new tab
   A Gene-body methylation pattern of MEF2C in the LDMs of Duroc pigs.
   Open and filled circles denote unmethylated or methylated positions,
   respectively. B The relative expression level of MEF2C in the LDMs of
   Duroc pigs determined by qRT–PCR. The data are shown as the mean ± S.E.
   (n = 4). *, P < 0.05
Discussion
   ADG is considered a growth trait of pigs and an essential indicator in
   the process of pig production that directly affects the economic
   efficiency of farmers. Our laboratory previously reported the
   identification and functional prediction of circular RNAs, long
   noncoding RNAs, and mRNAs related to growth traits and skeletal muscle
   development in Duroc pigs with different ADGs [[102]18]. In this study,
   we applied WGBS technology for methylation analysis of Duroc pigs at
   various growth rates to identify significant differential DMR-related
   genes.
   The WGBS method was first proposed in 1992 [[103]19]. This method is
   now widely used in DNA methylation studies in pigs because it is a high
   throughput, high specificity, high sensitivity, high resolution, and
   high coverage technique. Corbett RJ et al. used WGBS, RNA-seq, and
   smRNA-seq methods to identify DMRs at the stage of porcine foetal
   myogenesis and to validate their relationship with differentially
   expressed mRNAs and miRNAs [[104]20]. In addition, a study mapped the
   DNA methylome in the developing pig testis via WGBS [[105]21].
   To investigate the influence of DMRs on the growth rate of Duroc pigs,
   we conducted methylation profiling of the LDMs and identified 9,445
   DMRs. Some of these DMRs were located within genes associated with
   muscular development, such as MEF2C, DMD, and TGFB2 [[106]22–[107]24].
   These findings are consistent with previous studies that have
   investigated DNA methylation patterns in different pig breeds and at
   various developmental stages. For example, Li XJ et al. compared DNA
   methylation profiles between Wannanhua and Yorkshire pigs and
   identified 58283 DMRs, including 1425 DMGs that may play a role in
   muscle development [[108]15]. Similarly, Wang et al. discovered 722
   DMRs and 466 DMGs, including ADCY1, AGBL4, EXOC2, FUBP3, PAPPA2,
   PIK3R1, MGMT, and MYH8, which are associated with muscle growth in
   muscle tissues of Chenghua pigs and Yorkshire pigs, from a total of
   2,416,211 CpG sites [[109]13]. Furthermore, Yang et al. generated a
   single-base resolution DNA methylome map of porcine skeletal muscle
   across 27 developmental stages using WGBS and identified more than
   40,000 developmentally differentially methylated CpGs associated with
   muscle development genes [[110]25]. The results from our study and
   those of previous studies all suggest that DNA methylation plays an
   important role in muscle growth and development in pigs.
   Furthermore, we identified pathways associated with muscle growth and
   development, providing a valuable theoretical basis for further
   research. For example, 53 DMGs were significantly enriched in the
   calcium signalling pathway, 53 DMGs were increased dramatically in the
   MAPK signalling pathway, and 62 DMGs were substantially enriched in the
   PI3K-AKT signalling pathway. Interestingly, the MAPK and PI3K-AKT
   signalling pathways were also identified in a recent study of global
   DNA methylation in porcine skeletal muscle [[111]26]. The PI3K-AKT and
   MAPK signalling pathways play important roles in muscle development,
   influencing the proliferation and differentiation of muscle cells
   [[112]27, [113]28]. Calcium is an essential intracellular transduction
   signal involved in various biological functions, including myogenesis
   [[114]29], muscle contraction [[115]30], and muscular dystrophy
   development [[116]31]. Overall, DNA methylation has the potential to
   influence the growth rate and muscle production of pigs through the
   pathways mentioned above.
   In the present study, the BSP and qRT–PCR results showed that the H
   group had significantly decreased DNA methylation levels of LPAR1 in
   the promoter region and upregulated expression of this gene. Messmer T
   et al. reported that LPAR1, IGF1R, and TFRC receptor expression was
   upregulated in the early stages of differentiation and that
   supplementation with the appropriate ligands effectively induced
   differentiation [[117]32]. Stimulation of the sphingosine kinase and
   sphingosine 1-phosphate pathways by LPAR1 significantly increased the
   migration of skeletal muscle cells [[118]33]. A study conducted by Ray
   R et al. revealed that suppressing the LPAR1 gene in myogenic cells
   significantly inhibited the cellular differentiation process [[119]34].
   Interestingly, LPAR1 was also enriched in the PI3K-AKT signalling
   pathway. These findings suggest that LPAR1 plays a crucial role in
   regulating the growth and development of muscles in Duroc pigs. SLIT3
   in the H group exhibited hypomethylation in the downstream region and
   upregulated expression. Mice deficient in SLIT3 were reported to
   exhibit reduced skeletal muscle mass, muscle strength, and physical
   activity [[120]35]. Luan M et al. discovered through WGAS that SLIT3
   may have an effect on loin muscle area [[121]36]. Upregulation of SLIT3
   during the later growth stages of Duroc pigs may affect muscle
   development. The hypermethylation of MEF2C in the gene-body region and
   upregulated expression of this gene were found in the H group. MEF2C is
   a member of the myocyte enhancer factor 2 family and plays a role in
   myogenesis [[122]37–[123]39]. In recent years, an increasing number of
   comprehensive and systematic analyses of the role of MEF2C in
   myogenesis and muscle regeneration have been conducted. For example,
   Piasecka A. et al. reported that MEF2C is an essential factor
   regulating the quantity and quality of the microtranscriptome.
   Specifically, deleting MEF2C led to the downregulation of specific
   muscle-specific miRNAs during muscle cell differentiation [[124]40].
   Loumaye A et al. reported that MEF2C was able to maintain the slow
   expression and protein content of the myosin heavy chain beta(MyHC-
   [MATH: β :MATH]
   ) subtype in differentiated myotubes [[125]41]. Moreover, Kim HB et al.
   (2020) reported that O-GlcNAcylation of MEF2C was necessary for
   regulation of myoblast differentiation [[126]42]. Interestingly, MEF2C
   was also enriched in the MAPK signalling pathway. Overall, MEF2C might
   also be a master regulator in Duroc pigs with different growth rates.
   Thus, our study provides data support and new research ideas for
   exploring genes related to skeletal muscle growth and development in
   Duroc pigs.
Conclusion
   In conclusion, Our study demonstrates that the methylation status
   affects the growth rate of pigs and the expression level of genes
   related to muscle growth and development.
Materials and methods
   Animals
   All animal care and treatment procedures were approved by Ethics
   Committee of Shandong Agricultural University, China, and performed
   according to the Committee’s guidelines and regulations (Approval No.:
   2004006). Duroc pigs came from a core breeding farm (our study has
   taken the informed consent of the animal owner), with the measurement
   data in the pig herd to 30 to 110 kg body weight (individuals in the
   top 30% of ADG), and the performance measurement was continued to about
   130 kg body weight. According to the ADG (Supplementary Table 5), eight
   pigs were selected and divided into two groups: the H (774.89 g) group
   and the L (658.77 g) group, and each pair of high and low groups were
   half-siblings. All pigs were humanely slaughtered by electronic
   stunning followed by exsanguinations at the local abattoir. The LDM
   tissues were sampled and snap-frozen in liquid nitrogen, and stored at
   -80 ^∘C for later use.
   DNA isolation, BS-seq library construction, and sequencing
   High-quality genomic DNA was extracted from the LDM using DNeasy Blood
   & Tissue Kits (QIAGEN, CA, USA). DNA concentration and integrity were c
   Agarose Gel Electrophoresis, respectively. Then, the DNA libraries for
   bisulfite sequencing were prepared. Briefly, genomic DNAs were
   fragmented into 100-300 bp by Sonication (Covaris, Massachusetts, USA)
   and purified with a MiniElute PCR Purification Kit (QIAGEN, MD, USA).
   The fragmented DNAs were end-repaired, and a single “A” nucleotide was
   added to the three ^′ ends of the blunt fragments. Then, the genomic
   fragments were ligated to methylated sequencing adapters. Chips with
   adapters were bisulfite converted using a Methylation-Gold kit (ZYMO,
   CA, USA), and unmethylated cytosine was converted to uracil during
   sodium bisulfite treatment. Finally, the altered DNA fragments were PCR
   amplified and sequenced using Illumina HiSeq™ 2500 by Gene Denovo
   Biotechnology Co. Ltd. (Guangzhou, China).
   BS-seq reads mapping and methylation level analysis
   To get high-quality clean reads, raw reads were filtered according to
   the following rules: 1) removing reads containing more than 10% of
   unknown nucleotides (N); 2) removing low-quality reads containing more
   than 40% of low-quality (Q-value
   [MATH: ≤20 :MATH]
   ) bases.
   By default, the obtained clean reads were mapped to the species
   reference genome Sus scrofa v. 11.1 using BSMAP software [[127]43]
   (version: 2.90). Then a custom Perl script was used to call methylated
   cytosines and the methylated cytosines were tested with the correction
   algorithm described by [[128]44]. The methylation level was calculated
   based on methylated cytosine percentage in the whole genome, in each
   chromosome, and in different regions for each sequence context (CG,
   CHG, and CHH). Additionally, the methylation profile at flanking 3-kb
   regions and the gene-body (or transposable elements) was plotted
   according to the average methylation levels of each 200-bp interval to
   evaluate different methylation patterns in other genomic regions.
   Differentially methylated regions (DMRs) and functional enrichment
   analysis
   To identify differentially methylated regions (DMRs) between two
   samples(Methyl Kit (V1.4.10)), the minimum read coverage to call a
   methylation status for a base was set to 3 DMRs for each sequence
   context (CG, CHG, and CHH) according to different criteria: 1) For CG,
   numbers of CG in each window
   [MATH: ≥5 :MATH]
   , the absolute value of the difference in methylation ratio
   [MATH: ≥0.15 :MATH]
   , and P
   [MATH: ≤0.05 :MATH]
   ; 2) For CHG, numbers in a window
   [MATH: ≥5 :MATH]
   , the absolute value of the difference in methylation ratio
   [MATH: ≥0.25 :MATH]
   , and Q
   [MATH: ≤0.05 :MATH]
   ; 3) For CHH, numbers in a window
   [MATH: ≥15 :MATH]
   , absolute value of the difference in methylation ratio
   [MATH: ≥0.15 :MATH]
   , and Q
   [MATH: ≤0.05 :MATH]
   ; 4) For all C, numbers in a window
   [MATH: ≥20 :MATH]
   , absolute value of the difference in methylation ratio
   [MATH: ≥0.2 :MATH]
   , and Q
   [MATH: ≤0.05 :MATH]
   . To analyze the functional enrichment of genes affected by DMRs, gene
   ontology (GO) enrichment analysis ([129]http://www.geneontology.org/)
   and KEGG pathway enrichment analysis ([130]http://www.kegg.jp/kegg/)
   were conducted for DMGs by the hypergeometric test with a corrected
   p-value
   [MATH: ≤0.05 :MATH]
   .
   Bisulfite sequencing PCR
   Methprimer-designed BSP primers, which are mentioned in Table [131]2.
   Using a BisulFlashTM DNA Modification Kit (Epigentek, Farmingdale,
   USA), the bisulfite conversion of isolated LDM genomic DNA was shown.
   The targeted portion was amplified by PCR using TaKaRa EpiTaq™ HS
   (TaKaRa, Japan). The PCR products were cloned into the pMD18-T vector
   (TaKaRa, Japan) and transformed into Escherichia coli DH5
   [MATH: α :MATH]
   competent cells (TaKaRa, Japan). Thirty positive clones were sequenced
   for each group. Site-specific methylation measurements were analyzed
   using QUMA-Analyzer.
Table 2.
   Primers used in the study
   Gene Primer sequence Purpose Product size(bp)
   Lpar1-BSP-F 5’-GAATATTTTTTGAGAAGTTTGAGAAGTTT-3’ Identification of 209
   Lpar1-BSP-R 5’-CCATAACAACAATATAACAAAAAAATTAAC-3’ methylation level
   Mef2c-BSP-F 5’-TATGTGTGTTTTATAGTATTATTTTTTGTTTT-3’ Identification of
   358
   Mef2c-BSP-R 5’-ATCTCCTAATAAACTTAAATTTTACAAAATTA-3’ methylation leveL
   Lpar1-F 5’-GGAAAGTACCTTGCCACAGAA-3’ qRT-PCR 129
   Lpar1-R 5’-GAAGCGGCGGTTGACATA-3’
   Mef2c-F 5’-GAGCGTGCTGTGTGACTGTGAG-3’ qRT-PCR 82
   Mef2c-R 5’-CATGTCCGTGCTGGCATACTGG-3’
   Gapdh-F 5’-AAAGGCCATCACCATCTTCC-3’ qRT-PCR 135
   Gapdh-R 5’-GCCCCACCCTTCAAGTGAGCC-3’
   [132]Open in a new tab
   RNA extraction and qRT-PCR
   High quality RNA was extracted from the LDMs using a RNA extraction kit
   (Tiangen, China). First-strand cDNA was synthesized using the
   PrimeScript RT reagent Kit (TaKaRa, Japan). The primers for qPCR were
   designed using Primer Premier 6.0 and were listed in Table [133]2. The
   qRT-PCR assays were performed in a
   [MATH: 20μ :MATH]
   L reaction volume on a Roche LightCycler® 96 with TB Green as the
   fluorescent dye according to the manufacturer’s instructions (TaKaRa,
   Japan). After normalization with GAPDH,relative RNA levels in samples
   were calculated by the comparative threshold cycle (Ct) method.
   Integrative analysis of transcriptome and WGBS data
   To investigate the relationship between DNA methylation and gene
   expression (the same batch of Duroc pigs was used for RNA-Seq and
   WGBS), all DMGs were divided into three groups based on DMR location
   (upstream, gene body, and downstream), and a Venn diagram was used to
   visually demonstrate the overlap of genes between DMGs and DEGs.
   Statistical analysis
   The qPCR data were analyzed by the one-way ANOVA model followed by
   Tukey’s multiple range tests to separate the means using the SAS
   computer program for Windows (version 9.2). Data were presented as
   means ± SDs, and the statistical significance was set at P < 0.05.
Supplementary Information
   [134]Supplementary Material 1.^ (851.5KB, zip)
Acknowledgements