CGGBP1 is a GC-rich DNA-binding protein which is important for genomic integrity, gene expression and epigenome maintenance through regulation of CTCF occupancy and cytosine methylation. It has remained unclear how CGGBP1 integrates multiple diverse functions with its simple architecture of only a DNA-binding domain tethered to a C-terminal tail with low structural rigidity. We have used truncated forms of CGGBP1 with or without the DNA-binding domain (DBD) to assay cytosine methylation and global gene expression. Proximal promoters of CGGBP1-repressed genes, although significantly GC-poor, contain GC-rich transcription factor binding motifs and exhibit base compositions indicative of low C-T transition rates due to prevention of cytosine methylation. Genome-wide analyses of cytosine methylation and binding of CGGBP1 DBD show that CGGBP1 restricts cytosine methylation in a manner that depends on its DBD and its DNA-binding. The CGGBP1-repressed genes show an increase in promoter cytosine methylation alongside a decrease in transcript abundance when the DBD-deficient CGGBP1 is expressed. Our findings suggest that CGGBP1 protects transcription factor binding sites (TFBS) from cytosine methylation-associated loss and thereby regulates gene expression. By analysing orthologous promoter sequences we show that restriction of cytosine methylation is a function of CGGBP1 progressively acquired during vertebrate evolution. A superimposition of our results and evolution of CGGBP1 suggests that mitigation of cytosine methylation is majorly achieved by its N-terminal DBD. Our results position CGGBP1 DNA-binding as a major evolutionarily acquired mechanism through which it keeps cytosine methylation under check and regulates TFBS retention and gene activity.
CGGBP1 是一种富含 GC 的 DNA 结合蛋白,通过调控 CTCF 占有率和胞嘧啶甲基化,对基因组完整性、基因表达和表观基因组的维护具有重要作用。CGGBP1 的结构简单,只有一个 DNA 结合域与结构刚度较低的 C 端尾部相连,但它是如何整合多种不同功能的,目前仍不清楚。我们利用含有或不含 DNA 结合域(DBD)的 CGGBP1 截短形式来检测胞嘧啶甲基化和全局基因表达。CGGBP1抑制基因的近端启动子虽然明显缺乏GC,但含有富含GC的转录因子结合基团,并且由于胞嘧啶甲基化的阻止,其碱基组成显示出较低的C-T转换率。对胞嘧啶甲基化和 CGGBP1 DBD 结合的全基因组分析表明,CGGBP1 限制胞嘧啶甲基化的方式取决于其 DBD 及其 DNA 结合。当 DBD 缺失的 CGGBP1 表达时,CGGBP1 抑制基因的启动子胞嘧啶甲基化增加,同时转录本丰度下降。我们的研究结果表明,CGGBP1 保护转录因子结合位点(TFBS)免受胞嘧啶甲基化相关损失,从而调节基因表达。通过分析同源启动子序列,我们发现限制胞嘧啶甲基化是 CGGBP1 在脊椎动物进化过程中逐渐获得的一种功能。我们的研究结果与 CGGBP1 进化过程的叠加表明,胞嘧啶甲基化的缓解主要是通过其 N 端 DBD 实现的。我们的研究结果将 CGGBP1 的 DNA 结合定位为一种主要的进化机制,通过这种机制,CGGBP1 可控制胞嘧啶甲基化并调节 TFBS 的保留和基因活性。
{"title":"The amniote-conserved DNA-binding domain of CGGBP1 restricts cytosine methylation of transcription factor binding sites in proximal promoters to regulate gene expression.","authors":"Ishani Morbia, Praveen Kumar, Aditi Lakshmi Satish, Akanksha Mudgal, Subhamoy Datta, Umashankar Singh","doi":"10.1186/s12863-024-01282-2","DOIUrl":"10.1186/s12863-024-01282-2","url":null,"abstract":"<p><p>CGGBP1 is a GC-rich DNA-binding protein which is important for genomic integrity, gene expression and epigenome maintenance through regulation of CTCF occupancy and cytosine methylation. It has remained unclear how CGGBP1 integrates multiple diverse functions with its simple architecture of only a DNA-binding domain tethered to a C-terminal tail with low structural rigidity. We have used truncated forms of CGGBP1 with or without the DNA-binding domain (DBD) to assay cytosine methylation and global gene expression. Proximal promoters of CGGBP1-repressed genes, although significantly GC-poor, contain GC-rich transcription factor binding motifs and exhibit base compositions indicative of low C-T transition rates due to prevention of cytosine methylation. Genome-wide analyses of cytosine methylation and binding of CGGBP1 DBD show that CGGBP1 restricts cytosine methylation in a manner that depends on its DBD and its DNA-binding. The CGGBP1-repressed genes show an increase in promoter cytosine methylation alongside a decrease in transcript abundance when the DBD-deficient CGGBP1 is expressed. Our findings suggest that CGGBP1 protects transcription factor binding sites (TFBS) from cytosine methylation-associated loss and thereby regulates gene expression. By analysing orthologous promoter sequences we show that restriction of cytosine methylation is a function of CGGBP1 progressively acquired during vertebrate evolution. A superimposition of our results and evolution of CGGBP1 suggests that mitigation of cytosine methylation is majorly achieved by its N-terminal DBD. Our results position CGGBP1 DNA-binding as a major evolutionarily acquired mechanism through which it keeps cytosine methylation under check and regulates TFBS retention and gene activity.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"98"},"PeriodicalIF":1.9,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142670087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objectives: Wild soybean (Glycine soja), the ancestor of domesticated soybean, retains a higher level of genetic diversity and adaptability to harsh environments, making it highly valuable for breeding. Here, we re-sequenced 69 wild soybean individuals collected by the Shandong Academy of Agricultural Sciences and identified 1,613,162 high-quality SNPs which not only enriches our understanding of the genetic structure of wild soybean, but also provides valuable resources for further genomic research and genetic improvement of soybean.
Data description: In this study, we collected 69 wild soybean accessions from Shandong Province, China, and performed re-sequencing on the DNBSEQ platform, followed by SNPs identification. We then integrated ADMIXTURE, neighbor-joining tree, and principal component analysis to illustrate population characteristics. The results showed that these wild soybean accessions could be divided into three distinct subpopulations, exhibiting significant genetic differences.
{"title":"Comprehensive analysis of the genetic variation dataset among wild soybean (Glycine soja) in Shandong Province, China.","authors":"Lei-Lei Li, Ru-Mei Tian, Yan-Yan Pu, Yun-Zhe Cong, Xue Chen, Kai-Hua Jia, Na-Na Li","doi":"10.1186/s12863-024-01280-4","DOIUrl":"10.1186/s12863-024-01280-4","url":null,"abstract":"<p><strong>Objectives: </strong>Wild soybean (Glycine soja), the ancestor of domesticated soybean, retains a higher level of genetic diversity and adaptability to harsh environments, making it highly valuable for breeding. Here, we re-sequenced 69 wild soybean individuals collected by the Shandong Academy of Agricultural Sciences and identified 1,613,162 high-quality SNPs which not only enriches our understanding of the genetic structure of wild soybean, but also provides valuable resources for further genomic research and genetic improvement of soybean.</p><p><strong>Data description: </strong>In this study, we collected 69 wild soybean accessions from Shandong Province, China, and performed re-sequencing on the DNBSEQ platform, followed by SNPs identification. We then integrated ADMIXTURE, neighbor-joining tree, and principal component analysis to illustrate population characteristics. The results showed that these wild soybean accessions could be divided into three distinct subpopulations, exhibiting significant genetic differences.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"97"},"PeriodicalIF":1.9,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11552345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-08DOI: 10.1186/s12863-024-01278-y
Alana Firl, Meric C Lieberman, Nestor Kippes, Helen Tsai, Eric Dowd, Luca Comai, Isabelle M Henry
Objectives: Mint oil is used in various commercial applications world-wide. Mint oil is typically harvested from commercial clones of peppermint or spearmints. Spearmints are the product of a cross between two diploid species: Mentha longifolia (horse mint) and Mentha suaveolens (apple mint). Peppermints are the product of an additional hybridization step between spearmint and an octoploid Mentha aquatica (water mint). Here, we present a chromosome-scale assembly of the genome of a clone of M. suaveolens. Together with the previously assembled genome of M. longifolia, these assemblies are instrumental in addressing questions regarding the origins of spearmint and peppermint oil and the genomic composition of commercial spearmints, and to start elaborating strategies for mint cultivar improvement.
Data description: A Falcon assembly of the genome of M. suaveolens was generated from 103X coverage of PacBio long reads. Additional scaffolding was conducted by Dovetail Genomics, using a Chicago library, and a HiC library. The resulting assembly had an N50 of 44.7 Mb, and 98.45% of the 536 Mb of the assembly were contained within 12 large superscaffolds. Finally, a genetic map was applied to correct persistent misjoins. Illumina RNA-Seq libraries from a variety of tissues were used to annotate the genome.
{"title":"Chromosome-scale assembly of apple mint (Mentha suaveolens).","authors":"Alana Firl, Meric C Lieberman, Nestor Kippes, Helen Tsai, Eric Dowd, Luca Comai, Isabelle M Henry","doi":"10.1186/s12863-024-01278-y","DOIUrl":"10.1186/s12863-024-01278-y","url":null,"abstract":"<p><strong>Objectives: </strong>Mint oil is used in various commercial applications world-wide. Mint oil is typically harvested from commercial clones of peppermint or spearmints. Spearmints are the product of a cross between two diploid species: Mentha longifolia (horse mint) and Mentha suaveolens (apple mint). Peppermints are the product of an additional hybridization step between spearmint and an octoploid Mentha aquatica (water mint). Here, we present a chromosome-scale assembly of the genome of a clone of M. suaveolens. Together with the previously assembled genome of M. longifolia, these assemblies are instrumental in addressing questions regarding the origins of spearmint and peppermint oil and the genomic composition of commercial spearmints, and to start elaborating strategies for mint cultivar improvement.</p><p><strong>Data description: </strong>A Falcon assembly of the genome of M. suaveolens was generated from 103X coverage of PacBio long reads. Additional scaffolding was conducted by Dovetail Genomics, using a Chicago library, and a HiC library. The resulting assembly had an N50 of 44.7 Mb, and 98.45% of the 536 Mb of the assembly were contained within 12 large superscaffolds. Finally, a genetic map was applied to correct persistent misjoins. Illumina RNA-Seq libraries from a variety of tissues were used to annotate the genome.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"96"},"PeriodicalIF":1.9,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142633934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-05DOI: 10.1186/s12863-024-01277-z
Ikwhan Kim, Da-Ryung Jung, Ryeong-Hui Kim, Dokyung Lee, YeonGyun Jung, Ji Hoon Ha, Eun Kyung Lee, Jin Mo Kim, Jin Young Kim, Jun-Hwan Jang, Jun-Tae Bae, Yoon Soo Cho, Jae-Ho Shin
Objectives: Cutibacterium acnes is a Gram-positive bacterium commonly found on human skin, particularly in sebaceous areas. While it is typically considered a commensal, specific strain types based on single locus sequence typing (SLST) have been associated with pathogenic conditions or healthy skin. Recently, SLST D1 strains, part of phylotype IA1, have received attention for their potential benefits related to skin health. However, their genetic characteristics remain underexplored. Therefore, the whole genome of C. acnes CN6, an SLST D1 strain isolated from the facial skin of a healthy individual, was sequenced to expand the understanding of SLST D1 strains and identify genomic features that may support skin health.
Data description: The whole genome sequencing of C. acnes CN6 was conducted using MinION reads based on de novo assembly, revealing a single circular complete chromosome. With the length of 2,550,458 bp and G + C content of 60.04%, the genome contains 2,492 genes, including 2,433 CDSs, 9 rRNAs, 46 tRNAs, 4 ncRNAs, and 134 pseudo genes. Previously predicted virulence proteins of C. ances were detected in the genome. Genome comparation with 200 C. acnes strains isolated from healthy facial skin revealed SLST D1 strain-specific genes and a unique variant of the znuC gene in D1 strains.
{"title":"Complete genome of single locus sequence typing D1 strain Cutibacterium acnes CN6 isolated from healthy facial skin.","authors":"Ikwhan Kim, Da-Ryung Jung, Ryeong-Hui Kim, Dokyung Lee, YeonGyun Jung, Ji Hoon Ha, Eun Kyung Lee, Jin Mo Kim, Jin Young Kim, Jun-Hwan Jang, Jun-Tae Bae, Yoon Soo Cho, Jae-Ho Shin","doi":"10.1186/s12863-024-01277-z","DOIUrl":"10.1186/s12863-024-01277-z","url":null,"abstract":"<p><strong>Objectives: </strong>Cutibacterium acnes is a Gram-positive bacterium commonly found on human skin, particularly in sebaceous areas. While it is typically considered a commensal, specific strain types based on single locus sequence typing (SLST) have been associated with pathogenic conditions or healthy skin. Recently, SLST D1 strains, part of phylotype IA1, have received attention for their potential benefits related to skin health. However, their genetic characteristics remain underexplored. Therefore, the whole genome of C. acnes CN6, an SLST D1 strain isolated from the facial skin of a healthy individual, was sequenced to expand the understanding of SLST D1 strains and identify genomic features that may support skin health.</p><p><strong>Data description: </strong>The whole genome sequencing of C. acnes CN6 was conducted using MinION reads based on de novo assembly, revealing a single circular complete chromosome. With the length of 2,550,458 bp and G + C content of 60.04%, the genome contains 2,492 genes, including 2,433 CDSs, 9 rRNAs, 46 tRNAs, 4 ncRNAs, and 134 pseudo genes. Previously predicted virulence proteins of C. ances were detected in the genome. Genome comparation with 200 C. acnes strains isolated from healthy facial skin revealed SLST D1 strain-specific genes and a unique variant of the znuC gene in D1 strains.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"94"},"PeriodicalIF":1.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-05DOI: 10.1186/s12863-024-01276-0
Richa Sharma, Rukmini Mishra, Raj Kumar Joshi
Objectives: Purple blotch, caused by the necrotrophic pathogen Alternaria porri, is one of the most economically significant diseases of onion and allied crops. While the virulent nature of many Alternaria spp. has been identified, the pathogenic repertoire of A. porri is still unknown. The objective of this work was to sequence the genome of A. porri using the PacBio SMRT sequencing strategy and analyse the repertoire of CAZymes, secondary metabolites, secretome and effectors in A. porri. Our research group is working to identify onion germplasm with purple blotch resistance and to understand the genetics of the pathogen. The reported de-novo assembly will contribute to the analysis of potential variants and the gene repertoire contributing to the virulence and pathogenicity of the purple blotch pathogen.
Data description: Long-read sequencing on a PacBio Sequel II system resulted in a 32.98 Mb (20 contigs) assembly with an N50 of 2, 657, 264 bp, the longest contig length of 5.05 Mb, and a GC content of 51.06%. The Benchmarking Universal Single-Copy Orthologs (BUSCO) analysis resulted in 99.7% genome completeness at the Dothideomycetes lineage, representing a high-quality genome assembly. AUGUSTUS ab initio analysis resulted in 9875 protein-coding genes. Of the 6776 pathogenicity-related genes, 537 genes with effector functions were identified. Likewise, the glycoside hydrolases (434) were the most dominant group of the total 837 predicted CAZymes. The assembled genome of A. porri showed distinctive similarities to the genomes of A. alternata and A. brassicicola, the causal agents of leaf blight of onion and leaf spot of Brassica crops, respectively.
目的:由坏死性病原菌猪链孢属(Alternaria porri)引起的紫斑病是洋葱及其相关作物中最具经济意义的病害之一。虽然已经确定了许多 Alternaria 属的致病性,但 A. porri 的致病性仍然未知。这项工作的目的是利用 PacBio SMRT 测序策略对 A. porri 的基因组进行测序,并分析 A. porri 的 CAZymes、次生代谢物、分泌物组和效应器。我们的研究小组正致力于鉴定具有紫斑病抗性的洋葱种质,并了解病原体的遗传学。所报告的全新组装将有助于分析潜在的变体以及有助于紫斑病病原体毒力和致病性的基因库:在 PacBio Sequel II 系统上进行长线程测序后,得到了 32.98 Mb(20 个等位基因)的组装结果,N50 为 2,657,264 bp,最长等位基因长度为 5.05 Mb,GC 含量为 51.06%。通用单拷贝同源物基准(BUSCO)分析结果表明,Dothideomycetes 品系的基因组完整度为 99.7%,代表了高质量的基因组组装。AUGUSTUS 自证分析得出了 9875 个蛋白质编码基因。在 6776 个致病性相关基因中,发现了 537 个具有效应功能的基因。同样,在总共 837 个预测的 CAZymes 中,糖苷水解酶(434 个)是最主要的一组。所组装的 A. porri 基因组与 A. alternata 和 A. brassicicola(分别是洋葱叶枯病和芸苔属作物叶斑病的病原菌)的基因组显示出明显的相似性。
{"title":"A highly contiguous genome sequence of Alternaria porri isolate Apn-Nashik causing purple blotch disease in onion.","authors":"Richa Sharma, Rukmini Mishra, Raj Kumar Joshi","doi":"10.1186/s12863-024-01276-0","DOIUrl":"10.1186/s12863-024-01276-0","url":null,"abstract":"<p><strong>Objectives: </strong>Purple blotch, caused by the necrotrophic pathogen Alternaria porri, is one of the most economically significant diseases of onion and allied crops. While the virulent nature of many Alternaria spp. has been identified, the pathogenic repertoire of A. porri is still unknown. The objective of this work was to sequence the genome of A. porri using the PacBio SMRT sequencing strategy and analyse the repertoire of CAZymes, secondary metabolites, secretome and effectors in A. porri. Our research group is working to identify onion germplasm with purple blotch resistance and to understand the genetics of the pathogen. The reported de-novo assembly will contribute to the analysis of potential variants and the gene repertoire contributing to the virulence and pathogenicity of the purple blotch pathogen.</p><p><strong>Data description: </strong>Long-read sequencing on a PacBio Sequel II system resulted in a 32.98 Mb (20 contigs) assembly with an N50 of 2, 657, 264 bp, the longest contig length of 5.05 Mb, and a GC content of 51.06%. The Benchmarking Universal Single-Copy Orthologs (BUSCO) analysis resulted in 99.7% genome completeness at the Dothideomycetes lineage, representing a high-quality genome assembly. AUGUSTUS ab initio analysis resulted in 9875 protein-coding genes. Of the 6776 pathogenicity-related genes, 537 genes with effector functions were identified. Likewise, the glycoside hydrolases (434) were the most dominant group of the total 837 predicted CAZymes. The assembled genome of A. porri showed distinctive similarities to the genomes of A. alternata and A. brassicicola, the causal agents of leaf blight of onion and leaf spot of Brassica crops, respectively.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"95"},"PeriodicalIF":1.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Coronary artery disease (CAD) significantly contributes to global fatalities. Recent studies have demonstrated the crucial roles of sortilin1 (SORT1) and sestrin1 (SESN1) in lipid metabolism, as well as their involvement in the development of CAD. The aberrant expression or activity of SORT1 can consequently lead to metabolic and vascular diseases. Sestrins, including SESN1, play a crucial role in helping cells survive by maintaining metabolic balance while also reducing oxidative stress (OS). OS contributes to the progression of atherosclerosis-related diseases, such as CAD. The study aimed to compare the gene expression of SORT1 and SESN1 in peripheral blood mononuclear cells (PBMCs), alongside serum OS markers, in CAD patients and controls.
Materials: The case-control study included 49 CAD patients and 40 controls. The expression of the SORT1 and SESN1 genes was quantified using qRT-PCR, and the expression of the SORT1 protein was evaluated by western blotting. OS markers, including total oxidation status (TOS), total antioxidant capacity (TAC), and malondialdehyde (MDA), were measured using spectrophotometric and fluorometric methods.
Results: SORT1 gene and protein expressions were similar between groups. CAD patients had a non-significant decrease in SESN1 gene expression. MDA levels were significantly higher in CAD patients, whereas TOS and TAC levels did not differ significantly.
Conclusion: For atherosclerosis-related disorders like CAD, MDA shows potential as a non-invasive, easy-to-use, affordable, and stable biomarker. Further research is needed to elucidate the precise roles of SORT1 and SESN1 in CAD pathogenesis.
{"title":"Evaluating SORT1 and SESN1 genes expression in peripheral blood mononuclear cells and oxidative stress status in patients with coronary artery disease.","authors":"Tayebe Ghiasvand, Jamshid Karimi, Iraj Khodadadi, Amirhossein Yazdi, Salman Khazaei, Zahra Abedi Kichi, Seyed Kianoosh Hosseini","doi":"10.1186/s12863-024-01275-1","DOIUrl":"10.1186/s12863-024-01275-1","url":null,"abstract":"<p><strong>Background: </strong>Coronary artery disease (CAD) significantly contributes to global fatalities. Recent studies have demonstrated the crucial roles of sortilin1 (SORT1) and sestrin1 (SESN1) in lipid metabolism, as well as their involvement in the development of CAD. The aberrant expression or activity of SORT1 can consequently lead to metabolic and vascular diseases. Sestrins, including SESN1, play a crucial role in helping cells survive by maintaining metabolic balance while also reducing oxidative stress (OS). OS contributes to the progression of atherosclerosis-related diseases, such as CAD. The study aimed to compare the gene expression of SORT1 and SESN1 in peripheral blood mononuclear cells (PBMCs), alongside serum OS markers, in CAD patients and controls.</p><p><strong>Materials: </strong>The case-control study included 49 CAD patients and 40 controls. The expression of the SORT1 and SESN1 genes was quantified using qRT-PCR, and the expression of the SORT1 protein was evaluated by western blotting. OS markers, including total oxidation status (TOS), total antioxidant capacity (TAC), and malondialdehyde (MDA), were measured using spectrophotometric and fluorometric methods.</p><p><strong>Results: </strong>SORT1 gene and protein expressions were similar between groups. CAD patients had a non-significant decrease in SESN1 gene expression. MDA levels were significantly higher in CAD patients, whereas TOS and TAC levels did not differ significantly.</p><p><strong>Conclusion: </strong>For atherosclerosis-related disorders like CAD, MDA shows potential as a non-invasive, easy-to-use, affordable, and stable biomarker. Further research is needed to elucidate the precise roles of SORT1 and SESN1 in CAD pathogenesis.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"93"},"PeriodicalIF":1.9,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Inflammatory bowel disease (IBD) is occasionally associated with ophthalmic diseases, including iridocyclitis (IC). The co-occurrence of IBD and IC has been increasingly observed, possibly due to shared genetic structures.
Methods: A three-part analysis was executed utilizing genome-wide association study (GWAS) data on IBD and IC. First, the overall genetic correlation between the two traits was observed using linkage disequilibrium score regression (LDSC). Subsequent to this, a local genetic correlation analysis was conducted utilizing the heritability estimation from summary statistics (HESS) methodology. Finally, the conditional/conjunctional false discovery rate (cond/conjFDR) statistical framework was utilized to ascertain the degree of genetic overlap between the two traits.
Results: Positive overall correlations were observed among IBD, ulcerative colitis (UC), and IC, encompassing both acute/subacute and chronic IC presentations. While a significant correlation was identified between Crohn's disease (CD) and IC, it was not evident for acute/subacute or chronic IC (P > 0.05). Notably, IBD (encompassing CD and UC) demonstrated local genetic correlations with IC and acute/subacute IC, with pronounced enrichment notably on chromosomes 1 and 6, though such correlations were not observed with chronic IC. The conjFDR analysis confirmed the genetic overlap between the two diseases. The shared genes overlapping between IBD (encompassing CD and UC) and IC were IL23R, GPR35, and ERAP1. For acute/subacute IC and chronic IC, there were six overlapping genes (GPR35, RPL23AP12, IL23R, SNAPC4, ERAP1, and INAVA) and one overlapping gene (INAVA), respectively.
Conclusion: This study confirms the existence of a shared genetic structure between IBD and IC, providing a biological basis for their comorbidity. Additionally, this finding has significant implications for preventing and treating these two diseases.
背景:炎症性肠病(IBD)偶尔与眼科疾病相关,包括虹膜睫状体炎(IC)。人们越来越多地观察到 IBD 和 IC 同时发生,这可能是由于两者具有共同的遗传结构:方法:利用有关 IBD 和 IC 的全基因组关联研究(GWAS)数据进行了三部分分析。方法:利用 IBD 和 IC 的全基因组关联研究(GWAS)数据进行了三部分分析。首先,利用关联不平衡得分回归法(LDSC)观察了这两个性状之间的整体遗传相关性。随后,利用遗传率估计汇总统计(HESS)方法进行了局部遗传相关性分析。最后,利用条件/连接假发现率(cond/conjFDR)统计框架确定两个性状之间的遗传重叠程度:结果:在 IBD、溃疡性结肠炎(UC)和 IC(包括急性/亚急性和慢性 IC)之间观察到了整体正相关。虽然克罗恩病(CD)和慢性结肠炎之间存在明显的相关性,但急性/亚急性和慢性结肠炎之间的相关性并不明显(P > 0.05)。值得注意的是,IBD(包括 CD 和 UC)与 IC 和急性/亚急性 IC 存在局部遗传相关性,特别是在 1 号和 6 号染色体上有明显的富集,但与慢性 IC 没有观察到这种相关性。conjFDR 分析证实了这两种疾病的基因重叠。IBD(包括 CD 和 UC)和 IC 之间重叠的共有基因是 IL23R、GPR35 和 ERAP1。对于急性/亚急性 IC 和慢性 IC,分别有 6 个重叠基因(GPR35、RPL23AP12、IL23R、SNAPC4、ERAP1 和 INAVA)和 1 个重叠基因(INAVA):这项研究证实了 IBD 和 IC 之间存在共同的遗传结构,为它们的合并症提供了生物学基础。此外,这一发现对预防和治疗这两种疾病具有重要意义。
{"title":"Genetic overlap between inflammatory bowel disease and iridocyclitis: insights from a genome-wide association study in a European population.","authors":"Wu Liao, Qinghua Luo, Leichang Zhang, Haiyan Wang, Wei Ge, Jiawen Wang, Zhengyun Zuo","doi":"10.1186/s12863-024-01274-2","DOIUrl":"10.1186/s12863-024-01274-2","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory bowel disease (IBD) is occasionally associated with ophthalmic diseases, including iridocyclitis (IC). The co-occurrence of IBD and IC has been increasingly observed, possibly due to shared genetic structures.</p><p><strong>Methods: </strong>A three-part analysis was executed utilizing genome-wide association study (GWAS) data on IBD and IC. First, the overall genetic correlation between the two traits was observed using linkage disequilibrium score regression (LDSC). Subsequent to this, a local genetic correlation analysis was conducted utilizing the heritability estimation from summary statistics (HESS) methodology. Finally, the conditional/conjunctional false discovery rate (cond/conjFDR) statistical framework was utilized to ascertain the degree of genetic overlap between the two traits.</p><p><strong>Results: </strong>Positive overall correlations were observed among IBD, ulcerative colitis (UC), and IC, encompassing both acute/subacute and chronic IC presentations. While a significant correlation was identified between Crohn's disease (CD) and IC, it was not evident for acute/subacute or chronic IC (P > 0.05). Notably, IBD (encompassing CD and UC) demonstrated local genetic correlations with IC and acute/subacute IC, with pronounced enrichment notably on chromosomes 1 and 6, though such correlations were not observed with chronic IC. The conjFDR analysis confirmed the genetic overlap between the two diseases. The shared genes overlapping between IBD (encompassing CD and UC) and IC were IL23R, GPR35, and ERAP1. For acute/subacute IC and chronic IC, there were six overlapping genes (GPR35, RPL23AP12, IL23R, SNAPC4, ERAP1, and INAVA) and one overlapping gene (INAVA), respectively.</p><p><strong>Conclusion: </strong>This study confirms the existence of a shared genetic structure between IBD and IC, providing a biological basis for their comorbidity. Additionally, this finding has significant implications for preventing and treating these two diseases.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"92"},"PeriodicalIF":1.9,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-25DOI: 10.1186/s12863-024-01273-3
Kai Jin, Qisheng Zuo, Jiuzhou Song, Ahmed Kamel Elsayed, Hongyan Sun, YingJie Niu, Yani Zhang, Guobin Chang, Guohong Chen, Bichun Li
Objectives: Chicken (Gallus gallus), as the most economically important poultry, is a classical and ideal model for studying the mechanism of vertebrate developmental biology and embryology. However, the sex determination and differentiation in chicken is still elusive, which limited the application and slowed down many basic studies in chicken.
Data description: We applied PacBio Iso-seq to multiple spatiotemporal embryo-gonad tissues in the male and female chicken, which contain the blastoderm (E0, un-differentiation stage), genital ridge (E3.5-6.5, sex-differentiation stage) and gonads (E18.5, full-sex-differentiation stage). We obtained 51,479 and 48,356 full-length transcripts in male and female chicken embryo, respectively. The comprehensive annotated and evaluated these transcripts. The 1,293 and 1,556 candidate lncRNAs, 5,766 and 4,211 AS events in male and female. Collectively, our data constitutes a grand increase in the known number of lncRNA, AS (Alternative splicing) and Poly(A) during chicken embryo sex-differentiation and plays an important role in improving current genome annotation. In the meantime, the data will be enriched the functional studies in other birds.
{"title":"The full-length transcriptional of the multiple spatiotemporal embryo-gonad tissues in chicken (Gallus gallus).","authors":"Kai Jin, Qisheng Zuo, Jiuzhou Song, Ahmed Kamel Elsayed, Hongyan Sun, YingJie Niu, Yani Zhang, Guobin Chang, Guohong Chen, Bichun Li","doi":"10.1186/s12863-024-01273-3","DOIUrl":"10.1186/s12863-024-01273-3","url":null,"abstract":"<p><strong>Objectives: </strong>Chicken (Gallus gallus), as the most economically important poultry, is a classical and ideal model for studying the mechanism of vertebrate developmental biology and embryology. However, the sex determination and differentiation in chicken is still elusive, which limited the application and slowed down many basic studies in chicken.</p><p><strong>Data description: </strong>We applied PacBio Iso-seq to multiple spatiotemporal embryo-gonad tissues in the male and female chicken, which contain the blastoderm (E0, un-differentiation stage), genital ridge (E3.5-6.5, sex-differentiation stage) and gonads (E18.5, full-sex-differentiation stage). We obtained 51,479 and 48,356 full-length transcripts in male and female chicken embryo, respectively. The comprehensive annotated and evaluated these transcripts. The 1,293 and 1,556 candidate lncRNAs, 5,766 and 4,211 AS events in male and female. Collectively, our data constitutes a grand increase in the known number of lncRNA, AS (Alternative splicing) and Poly(A) during chicken embryo sex-differentiation and plays an important role in improving current genome annotation. In the meantime, the data will be enriched the functional studies in other birds.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"91"},"PeriodicalIF":1.9,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-24DOI: 10.1186/s12863-024-01272-4
Muhammad Arslan Khalid, Zulfiqar Ali, Latifa Al Husnain, Sajid Fiaz, Muhammad Abu Bakar Saddique, Sabah Merrium, Kotb A Attia, Sezai Ercisli, Rashid Iqbal
The root architecture, more seminal roots, and Deeper roots help the plants to uptake the resources from the deeper soil layer to ensure better growth. The Gibberellic acid-sensitive (GA-sensitive) Rht genes are well known for increasing drought tolerance in wheat. Much work has been performed on the effect of these genes on the plant agronomic traits and little work has been done on the effect of Rht genes on seminal roots and root architecture. This study was designed to evaluate 200 wheat genotypes under normal and osmotic stress. The genotypes were sown in the solution culture and laid under CRD factorial arrangement with three replications and two factors i.e., genotypes and treatments viz. normal and osmotic stress (20% PEG-6000) applied one week after germination. The data was recorded for the root traits. Results demonstrated that out of 200 genotypes, the GA-sensitive Rht13 gene was amplified in 21 genotypes with a fragment length of 1089 bp. In comparison, the GA-insensitive Rht1 gene was amplified in 24 genotypes with a band size of 228 bp. From 200 wheat genotypes, 122 genotypes produced 5 seminal roots, 4 genotypes 4 seminal roots, and 74 genotypes 3 seminal roots. The genotypes G-3 (EBW11TALL#1/WESTONIA-Rht5//QUAIU#1), G-6 (EBW01TALL#1/SILVERSTAR-Rht13B//ROLF07) and G-8 (EBW01TALL#1/SILVERSTAR-Rht13B//NAVJ07) produced 5 seminal roots and have longer coleoptile (> 4.0 cm), root (> 11.0 cm) and shoot (> 17 cm) under normal and osmotic stress. Furthermore, Ujala 16, Galaxy-13, and Fareed-06 produced 3 seminal roots and have short coleoptile (< 3 cm), root (< 9.0 cm) and shoot (< 10.0 cm). These results showed that the genotypes showing the presence of GA-sensitive Rht genes produced a greater number of seminal roots, increased root/shoot growth, and osmotic stress tolerance compared to the genotypes having GA-insensitive Rht genes. Thus, the Rht13 gene improved the root architecture which will help to uptake the nutrients from deeper soil layers. Utilization of Rht13 in wheat breeding has the potential to improve osmotic stress tolerance in wheat.
{"title":"GA-sensitive Rht13 gene improves root architecture and osmotic stress tolerance in bread wheat.","authors":"Muhammad Arslan Khalid, Zulfiqar Ali, Latifa Al Husnain, Sajid Fiaz, Muhammad Abu Bakar Saddique, Sabah Merrium, Kotb A Attia, Sezai Ercisli, Rashid Iqbal","doi":"10.1186/s12863-024-01272-4","DOIUrl":"10.1186/s12863-024-01272-4","url":null,"abstract":"<p><p>The root architecture, more seminal roots, and Deeper roots help the plants to uptake the resources from the deeper soil layer to ensure better growth. The Gibberellic acid-sensitive (GA-sensitive) Rht genes are well known for increasing drought tolerance in wheat. Much work has been performed on the effect of these genes on the plant agronomic traits and little work has been done on the effect of Rht genes on seminal roots and root architecture. This study was designed to evaluate 200 wheat genotypes under normal and osmotic stress. The genotypes were sown in the solution culture and laid under CRD factorial arrangement with three replications and two factors i.e., genotypes and treatments viz. normal and osmotic stress (20% PEG-6000) applied one week after germination. The data was recorded for the root traits. Results demonstrated that out of 200 genotypes, the GA-sensitive Rht13 gene was amplified in 21 genotypes with a fragment length of 1089 bp. In comparison, the GA-insensitive Rht1 gene was amplified in 24 genotypes with a band size of 228 bp. From 200 wheat genotypes, 122 genotypes produced 5 seminal roots, 4 genotypes 4 seminal roots, and 74 genotypes 3 seminal roots. The genotypes G-3 (EBW11TALL#1/WESTONIA-Rht5//QUAIU#1), G-6 (EBW01TALL#1/SILVERSTAR-Rht13B//ROLF07) and G-8 (EBW01TALL#1/SILVERSTAR-Rht13B//NAVJ07) produced 5 seminal roots and have longer coleoptile (> 4.0 cm), root (> 11.0 cm) and shoot (> 17 cm) under normal and osmotic stress. Furthermore, Ujala 16, Galaxy-13, and Fareed-06 produced 3 seminal roots and have short coleoptile (< 3 cm), root (< 9.0 cm) and shoot (< 10.0 cm). These results showed that the genotypes showing the presence of GA-sensitive Rht genes produced a greater number of seminal roots, increased root/shoot growth, and osmotic stress tolerance compared to the genotypes having GA-insensitive Rht genes. Thus, the Rht13 gene improved the root architecture which will help to uptake the nutrients from deeper soil layers. Utilization of Rht13 in wheat breeding has the potential to improve osmotic stress tolerance in wheat.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"90"},"PeriodicalIF":1.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: Paracidovorax avenae (Pa) is the causative agent of red stripe disease in sugarcane and belongs to the Gram-negative β-Proteobacteria. Red stripe is a major bacterial disease of sugarcane worldwide. Limited genome sequences of Pa can be used for exploring the phylogenetic and genetic diversity analysis in this pathogen at the complete genome level. In this study, a whole genome sequence of Pa CNGX08 strain isolated from sugarcane in China was assembled and annotated.
Data description: Genome assembly data from second- and third-generation sequencing revealed that the entire genomic sequence of Pa CNGX08 strain causing red stripe in sugarcane, consisted of a 5,625,582 bp circular chromosome with a GC content of 68.97%. In total, 4,915 protein-coding genes were annotated. Additionally, 9 ribosomal RNAs and 52 transfer RNAs were identified. This genomic resource will facilitate the genome-based taxonomic classification of the genus Paracidovorax and the exploration of pathogenic mechanisms underlying sugarcane red stripe disease caused by Pa.
目的甘蔗红条纹病的病原菌是venae Paracidovorax(Pa),属于革兰氏阴性β-蛋白细菌。红条纹病是全球甘蔗的一种主要细菌性病害。有限的 Pa 基因组序列可用于在全基因组水平上探索该病原体的系统发育和遗传多样性分析。本研究组装并注释了从中国甘蔗中分离的 Pa CNGX08 菌株的全基因组序列:第二代和第三代测序的基因组组装数据显示,引起甘蔗红条病的 Pa CNGX08 株系的全基因组序列由一个 5,625,582 bp 的环状染色体组成,GC 含量为 68.97%。共注释了 4,915 个蛋白质编码基因。此外,还鉴定了 9 种核糖体 RNA 和 52 种转移 RNA。该基因组资源将有助于对 Paracidovorax 属进行基于基因组的分类,并探索由 Pa.C. 和 Paracidovorax 引起的甘蔗红条纹病的致病机制。
{"title":"Complete genome sequence of Paracidovorax avenae causing red stripe in sugarcane.","authors":"Hai-Hong Duan, Jian-Ying Zhao, Wei-Ting Liu, Quan Xie, Chu-Yang Zheng, San-Ji Gao","doi":"10.1186/s12863-024-01271-5","DOIUrl":"10.1186/s12863-024-01271-5","url":null,"abstract":"<p><strong>Objective: </strong>Paracidovorax avenae (Pa) is the causative agent of red stripe disease in sugarcane and belongs to the Gram-negative β-Proteobacteria. Red stripe is a major bacterial disease of sugarcane worldwide. Limited genome sequences of Pa can be used for exploring the phylogenetic and genetic diversity analysis in this pathogen at the complete genome level. In this study, a whole genome sequence of Pa CNGX08 strain isolated from sugarcane in China was assembled and annotated.</p><p><strong>Data description: </strong>Genome assembly data from second- and third-generation sequencing revealed that the entire genomic sequence of Pa CNGX08 strain causing red stripe in sugarcane, consisted of a 5,625,582 bp circular chromosome with a GC content of 68.97%. In total, 4,915 protein-coding genes were annotated. Additionally, 9 ribosomal RNAs and 52 transfer RNAs were identified. This genomic resource will facilitate the genome-based taxonomic classification of the genus Paracidovorax and the exploration of pathogenic mechanisms underlying sugarcane red stripe disease caused by Pa.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"89"},"PeriodicalIF":1.9,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}