Promoter polymorphisms in genes involved in porcine myogenesis influence their transcriptional activity

Bongiorni, Silvia; Tilesi, Francesca; Bicorgna, Silvia; Iacoponi, Francesca; Willems, Daniela; Gargani, Maria; D’Andrea, Mariasilvia; Pilla, Fabio; Valentini, Alessio

doi:10.1186/s12863-014-0119-2

Cited by 15 publications

(9 citation statements)

References 38 publications

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“…Polymorphisms in the 5’ regulatory region of a gene could affect its transcriptional activity [36]. In the present study, luciferase reporter constructs with the GG genotype of rs321936011 had a lower promoter activity of the MAOA gene than that of AA genotypes.…”

Section: Discussionmentioning

confidence: 45%

Identification of Single Nucleotide Polymorphisms in Porcine MAOA Gene Associated with Aggressive Behavior of Weaned Pigs after Group Mixing

Chen

Chu

Shen

et al. 2019

Animals

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Simple SummaryMonoamine Oxidase A (MAOA) gene had been reported as a candidate gene of aggressive behavior in several species. In the present study, the most aggressive and docile weaned pigs in each pen after group mixing were selected to identify single nucleotide polymorphisms in porcine MAOA gene associated with aggressive behavior. Constructs containing variable lengths of truncated porcine MAOA promoter were used to determine the promoter activity by a dual luciferase reporter system. The core promoter region of porcine MAOA was located at −679 bp to −400 bp. A total of nine single nucleotide polymorphisms (SNPs) in the MAOA gene were genotyped, of which six SNPs had significant differences in allele frequency between the aggressive and docile pigs. Four linked SNPs in porcine MAOA gene were associated with aggressive behavior in weaned pigs after mixing, which can be used as candidate molecular markers for aggressive behavior in pigs.AbstractUnderstanding the genetic background underlying the expression of behavioral traits has the potential to fasten the genetic progress for reduced aggressive behavior of pigs. The monoamine oxidase A (MAOA) gene is known as the “warrior” gene, as it has been previously linked to aggressive behavior in humans and livestock animals. To identify single nucleotide polymorphisms in porcine MAOA gene associated with aggressive behavior of pigs, a total of 500 weaned pigs were selected and mixed in 51 pens. In each pen, two aggressive and two docile pigs (a total of 204 pigs) were selected based on their composite aggressive score (CAS). Ear tissue was sampled to extract genomic DNA. Constructs containing variable lengths of truncated porcine MAOA promoter were used to determine the promoter activity by a dual luciferase reporter system. The core promoter region was located at −679 bp to −400 bp. A total of nine single nucleotide polymorphisms (SNPs) in MAOA gene were genotyped, of which six SNPs had significant differences (p < 0.05) in allele frequency between the aggressive and docile pigs. Linkage disequilibrium and association analyses showed that the pigs inherited the wild genotypes showed more aggressive behavior (p < 0.05) than pigs with the mutant genotypes of the four linked SNPs, rs321936011, rs331624976, rs346245147, and rs346324437. In addition, pigs of GCAA haplotype were more (p < 0.05) aggressive than the pigs with GCGA or ATGG haplotype. The construct containing the wild genotype GG of rs321936011 had lower (p = 0.031) promoter activity compared to the mutant genotype AA. These results suggest that the four linked SNPs in MAOA gene could be considered as a molecular marker for behavioral trait selection in pigs.

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Section: Discussionmentioning

confidence: 45%

Identification of Single Nucleotide Polymorphisms in Porcine MAOA Gene Associated with Aggressive Behavior of Weaned Pigs after Group Mixing

Chen

Chu

Shen

et al. 2019

Animals

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“…In addition, the cumulative protective effect depends on the number of genotypes, and the risk of recurrent abortion is significantly reduced with increases in the number of observed genotypes. Promoter polymorphisms might have important functions in regulating the expression of mature lncRNAs and some transcription factors (Bongiorni et al, 2014). However, Wang et al found that rs1041279 in the HULC gene is associated with increased risk for hepatocellular cancer and suggested that this polymorphism might be a biomarker for hepatocellular cancer risk (Wang et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

LncRNA HULC Polymorphism Is Associated With Recurrent Spontaneous Abortion Susceptibility in the Southern Chinese Population

Fang¹,

Yang²,

et al. 2019

Front. Genet.

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Previous studies have revealed that genetic variation in genes that regulate cell migration might be associated with susceptibility to recurrent spontaneous abortion. HULC regulates the migration of a variety of cells, and genetic polymorphisms of HULC are associated with susceptibility to a variety of diseases, but their association with susceptibility to recurrent spontaneous abortion has not been reported. This study included 610 cases of recurrent spontaneous abortion and 817 normal controls, and the polymorphisms of the four SNPs were genotyped using the TaqMan method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the associations between selected SNPs and susceptibility to recurrent spontaneous abortion. Our results showed that three SNPs were significantly associated with a reduced risk of recurrent spontaneous abortion: rs1041279 (GG vs. GC/CC: adjusted OR = 0.745, 95% CI = 0.559–0.993, P = 0.0445), rs7770772 (GC/CC vs. GG: adjusted OR = 0.757, 95% CI = 0.606–0.946, P = 0.0143), and rs17144343 (AA/GA vs GG adjusted OR = 0.526, 95% CI = 0.366–0.755, P = 0.0005). Individuals with one to four genotypes showed a reduced risk of recurrent spontaneous abortion (adjusted OR = 0.749, 95% CI = 0.598–0.939, P = 0.0123). This cumulative effect on protection increased with increases in the observed number of genotypes (adjusted OR = 0.727, 95% CI = 0.625–0.846, ptrend < 0.0001). Our study suggests that HULC might be a biomarker for risk for recurrent spontaneous abortion, but larger sample studies are needed to verify this result.

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“…; Bongiorni et al . ). Thus, the identification of three linked SNPs ( ASGA0040372 , RS346215414 and RS331766122) located at the start of the pig GPAT3 gene implies that the regulatory region of GPAT3 may play an important role in pig growth rate.…”

Section: Associations Of the Five Snps In The Gpat3 Gene With The Fivmentioning

confidence: 97%

A post‐GWAS confirming GPAT3 gene associated with pig growth and a significant SNP influencing its promoter activity

Wang

Liu

et al. 2017

Animal Genetics

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Our previous genome-wide association study revealed that a SNP, ASGA0040372, located upstream of glycerol-3-phosphate acyltransferase 3 (GPAT3), is related to growth traits in Duroc pigs. In this study, we aimed to extensively investigate the genetic variation of GPAT3 and to further verify the contribution of ASGA0040372 to growth traits and its effect on promoter activity. Our data, obtained based on gene cloning and rapid amplification of cDNA ends experiments, showed that there are 14 exons and three alternative splicing variants. Five SNPs were detected, including ASGA0040372 and four novel SNPs. Furthermore, the five SNPs obtained were used to confirm their genetic effects on pig growth by an association study in a Duroc pig population. The results indicated that three SNPs (ASGA0040372, RS331766122 and RS346215414) are highly associated with average daily gain or days to 100 kg traits (P-value < 0.05). Subsequent analysis suggested that the promoter region of GPAT3 gene, from -950 to -500 bp, exhibited the highest activity. We also observed that ASGA0040372 (A/G) alleles have significantly different effects on promoter transcriptional activities, which leads to differential expression of GPAT3. Taken together, we conclude that the GPAT3 gene is associated with pig growth and that ASGA0040372 influences promoter activity of GPAT3 in pig.

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Promoter polymorphisms in genes involved in porcine myogenesis influence their transcriptional activity

Cited by 15 publications

References 38 publications

Identification of Single Nucleotide Polymorphisms in Porcine MAOA Gene Associated with Aggressive Behavior of Weaned Pigs after Group Mixing

Identification of Single Nucleotide Polymorphisms in Porcine MAOA Gene Associated with Aggressive Behavior of Weaned Pigs after Group Mixing

LncRNA HULC Polymorphism Is Associated With Recurrent Spontaneous Abortion Susceptibility in the Southern Chinese Population

A post‐GWAS confirming GPAT3 gene associated with pig growth and a significant SNP influencing its promoter activity

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