Identification and Functional Characterization of Novel Genetic Variations in Porcine <i>TLR5</i> Promoter

Dominguez, Miguel A.; Landi, Vincenzo; Martínez, A. Rojas; Garrido, Juan J.

doi:10.1089/dna.2013.2318

Cited by 6 publications

(5 citation statements)

References 29 publications

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“…Dominquez et al . indicated that a 23-bp indel in porcine TLR5 gene, creating an additional STAT binding site, is associated with an increase of the promoter activity 37 . We found a 10-bp indel variant in the promoter region of the bovine PAX7 gene that the 10-bp insertion can reduce promoter activity and PAX7 expression, and negatively associate the cattle growth traits by creating a transcriptional suppressor ZNF219 binding site, while the 10-bp deletion can enhance the effects.…”

Section: Discussionmentioning

confidence: 99%

A novel PAX7 10-bp indel variant modulates promoter activity, gene expression and contributes to different phenotypes of Chinese cattle

Shi

Zhou

et al. 2018

Sci Rep

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Paired box 7 (PAX7) gene regulates the conversion of muscle satellite cells into myogenic cells and participates in multi-step processes in myogenesis.Expression levels of PAX7 are decisive for its regulatory function. Previous reports revealed that PAX7 were responsible for the developmental traits of muscle. The relationship of the PAX7 promoter variants and livestock phenotypic traits has not been fully elucidated. We detected a novel 10-bp insertion/deletion (indel) polymorphism in the bovine PAX7 promoter and revealed that the indel altered the binding of the transcriptional factor ZNF219. Luciferase reporter assay showed that deletion-deletion (Del-Del) genotype of the PAX7 gene showed 2.79-fold higher promoter activity than the insertion-insertion (Ins-Ins) genotype (P < 0.05), and ZNF219 overexpression significantly diminished the luciferase activity in Ins-Ins groups. Moreover, the expression of PAX7 and its down-stream genes were detected in fetal skeletal muscle of cattle with different PAX7 genotypes, where the Del-Del genotype also displayed high expression levels. Statistical association analysis demonstrated that this indel had significant effects on early growth traits in cattle. These findings provide a complete overview of the function of the PAX7 10-bp variant, which may have potential as a genetic marker for marker-assisted selection in improving economically significant traits of cattle.Cattle phenotypes of economic significance, such as growth rates, carcass, and meat quality, have attracted much attention from breeders in the beef cattle industry. Such phenotypes constitute a multifactorial background that arises from interactions between environmental and genetic factors 1 . In marker-assisted selection programs, the efficiency of selection is associated with the identification of candidate genes, as well as the exploration of genome-wide variation markers that are responsible for the complex quantitative traits 2 . The establishment of genetic association approach provides a unique opportunity to study genotype-phenotype relationships 3 . Therefore, the integration of screening for variations and gene association programs can improve assessments of the genetic effects of candidate genes, thus providing promising materials for successful genetic selection in cattle breeding.Muscle satellite cells, known as muscle-specific committed progenitors, are located under the basal lamina of muscle fibres and play important roles in the growth, maintenance, homeostasis, repair, and regeneration of skeletal muscle [4][5][6] . Paired box 7 (PAX7) gene, a member of the paired box gene family, is the marker gene of myogenic satellite cells 7 . PAX7 is specifically expressed in quiescent, activated, and proliferating satellite cells, and PAX7-expressing satellite cells are indispensable for the postnatal muscle development and regeneration after the injury of skeletal muscle, however, their regenerative function can not be performed by other endogenous cell

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Section: Discussionmentioning

confidence: 99%

A novel PAX7 10-bp indel variant modulates promoter activity, gene expression and contributes to different phenotypes of Chinese cattle

Shi

Zhou

et al. 2018

Sci Rep

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“…InDel markers with similar but more efficient traits than SSR markers have been considered potential markers and have been used in assessing DNA polymorphisms (Dominguez et al. , Rachadel Torres et al. , Rosse et al.…”

Section: Discussionmentioning

confidence: 99%

“…The results confirmed that SSR markers could be useful in research as garlic molecular markers. InDel markers with similar but more efficient traits than SSR markers have been considered potential markers and have been used in assessing DNA polymorphisms (Dominguez et al 2014, Rachadel Torres et al 2014, Rosse et al 2014, Settles et al 2014). An InDel marker used in the present study uncovered allelic variation with an average of 10.0 alleles, which indicated that InDel could be useful markers for garlic research.…”

Section: Discussionmentioning

confidence: 99%

Genetic diversity of garlic (Allium sativum L.) germplasm from China by fluorescent‐based AFLP, SSR and InDel markers

Wang

Liu

et al. 2016

Plant Breeding

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Garlic (Allium sativum L.), an asexually propagated crop, is an important vegetable and medicinal plant. China is the biggest garlic producer in the world; however, the genetic background of garlic from China is not well understood. In this study, population structure and clustering analysis of garlic germplasm was performed using amplified fragment length polymorphism (AFLP), simple sequence repeat (SSR) and insertion–deletion (InDel) markers. Among 212 accessions of garlic, genetic diversity analysis identified 546 alleles amplified by AFLP, SSR and InDel primers, and 492 of these were polymorphic. All accessions were divided into five groups by structure analysis and neighbor‐joining clustering. Most traits, including allicin content, were only slightly affected by population structure, which indicated that this germplasm can be used as populations for association mapping. The results provide a molecular basis for understanding the genetic diversity of the garlic germplasm preserved in China.

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“…Therefore, porcine TLR5 plays an important regulatory role in the innate immune response against exogenous antigens. Dominguez et al [20] identified one indel variant in the predicted TLR5 promoter sequence, which contributed to an additional STAT binding site and an increase in promoter activity. Compared with Western breeds, Chinese domestic pig breeds have higher genetic diversity and more haplotypes [21].…”

Section: Introductionmentioning

confidence: 99%

Regulation and Molecular Mechanism of TLR5 on Resistance to Escherichia coli F18 in Weaned Piglets

Dai

Jin

et al. 2019

Animals

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Simple SummaryPiglet diarrhea is the most common type of disease on many large-scale pig farms, where it causes serious economic losses. Abuses of vaccines and veterinary medicine are very common, which not only lead to the emergence and prevalence of drug-resistant bacteria, but also to a decline in the quality of livestock products and economic benefits. Therefore, improving the resistance of piglets to diarrhea by genetic means is a common goal of modern breeding scientists. This study aims to reveal the molecular mechanism of regulating piglet diarrhea via the important candidate gene TLR5 from the perspective of epigenetic factors.AbstractToll-like receptor 5 (TLR5) plays an important role in immune system. In this study, we performed transcriptome analysis of the duodenum in E. coli F18-resistant and -sensitive Sutai weaned piglets and analyzed the differential expression of TLR5. The cellular localization of TLR5 was investigated, and the effect of TLR5 expression on E. coli invasion was evaluated after pig small intestinal epithelial cell lines (IPEC-J2) were stimulated by E. coli. The results showed that TLR5 expression level in duodenum and jejunum were significantly higher in E. coli F18-sensitive than in E. coli F18-resistant piglets. TLR5 protein was mainly expressed in the cytoplasm and cell membrane. The expression of genes associated with the TLR5 signaling pathway were significantly higher in TLR5-overexpressed cells than in control cells. Bacterial adhesion was higher in TLR5-overexpressed cells than in blank cells and lower in TLR5 interference than in blank cells. The core promoter region of TLR5 included two CpG islands and 16 acting elements. The methylation of the mC-6 site in the second CpG island of the promoter region had a regulatory effect on TLR5 expression. Therefore, TLR5 plays an important regulatory role on E. coli invasion. Low expression of TLR5 inhibited the immune response and decreased cell damage, which was conducive to the resistance to E. coli stimulation. In conclusion, this study preliminarily revealed the molecular mechanism of TLR5 gene regulating the resistance of piglets to Escherichia coli, and provided a new candidate gene for screening Escherichia coli resistance markers in pigs.

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Identification and Functional Characterization of Novel Genetic Variations in Porcine TLR5 Promoter

Cited by 6 publications

References 29 publications

A novel PAX7 10-bp indel variant modulates promoter activity, gene expression and contributes to different phenotypes of Chinese cattle

A novel PAX7 10-bp indel variant modulates promoter activity, gene expression and contributes to different phenotypes of Chinese cattle

Genetic diversity of garlic (Allium sativum L.) germplasm from China by fluorescent‐based AFLP, SSR and InDel markers

Regulation and Molecular Mechanism of TLR5 on Resistance to Escherichia coli F18 in Weaned Piglets

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