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

Animals ◽  
2019 ◽  
Vol 9 (11) ◽  
pp. 952 ◽  
Author(s):  
Ruonan Chen ◽  
Qingpo Chu ◽  
Chunyan Shen ◽  
Xian Tong ◽  
Siyuan Gao ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Aggressive Behavior ◽  
Promoter Activity ◽  
Monoamine Oxidase A ◽  
Luciferase Reporter ◽  
Nucleotide Polymorphisms ◽  
Weaned Pigs ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Maoa Gene

Understanding 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.

scholarly journals Identification of Functional Single Nucleotide Polymorphisms in Porcine HSD17B14 Gene Associated with Estrus Behavior Difference between Large White and Mi Gilts

Biomolecules ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 1545
Author(s):  
Siyuan Gao ◽  
Ruixin Tao ◽  
Xian Tong ◽  
Qinglei Xu ◽  
Jing Zhao ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Promoter Activity ◽  
Core Promoter ◽  
Luciferase Reporter ◽  
Nucleotide Polymorphisms ◽  
Large White ◽  
Steroid Synthesis ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Estrus Behavior

Steroid hormone levels are associated with estrous behavior, which affects timely mating and reproductive efficiency in pigs. 17β-hydroxysteroid dehydrogenase type 14 (HSD17B14) modulates steroid synthesis and metabolism. To identify the functional single nucleotide polymorphisms (SNPs) in the porcine HSD17B14 gene, ear tissues from Large White and Mi gilts were collected to extract genomic DNA. Variable lengths of truncated promoter of HSD17B14 gene were used to determine the promoter activity by a dual luciferase reporter system. The vector HSD17B14Phe or HSD17B14Val was transfected into porcine granulosa cells (GCs). The core promoter region was identified between −72 bp and −218 bp. Six of seven SNPs had significant differences of allele frequency between Large White and Mi gilts. The plasmids with the wild genotype AA of rs329427898 maintained a smaller fraction of promoter activity compared with the plasmids with the mutant genotype GG, while the plasmids with wild the genotype TT of rs319864566 had a greater promoter activity than the plasmids with the mutant genotype CC. A missense mutation (Phe73Val) caused changes in the structural dynamics and function of the HSD17B14 protein. The highly expressed HSD17B14Val degraded less estradiol into estrone, while the relatively lowly expressed HSD17B14Phe degraded more estradiol into estrone, suggesting the protein activity of HSD17B14Phe was greater than that of HSD17B14Val. Moreover, the HSD17B14Phe group has a greater apoptosis rate of porcine GCs. The HSD17B14 gene could been used as a candidate molecular marker for estrus behavior in pigs.

scholarly journals Single Nucleotide Polymorphisms inP2X7Gene Are Associated with Serum Immunoglobulin G Responses toMycobacterium tuberculosisin Tuberculosis Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Jiangdong Wu ◽  
Lijun Lu ◽  
Le Zhang ◽  
Yulei Ding ◽  
Fang Wu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Immunoglobulin G ◽  
Serum Immunoglobulin ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Pcr Rflp ◽  
Positive Rate

Objective. Our study investigated the association between single nucleotide polymorphisms (SNPs) in P2X7 gene and serum immunoglobulin G (IgG) responses to mycobacterium tuberculosis (MTB) in TB patients.Methods. A total of 103 TB patients were enrolled as case group and 87 healthy individuals at same geographical region as control group. The SNP detection of 1513A>C and -762T>C was performed using PCR-RFLP, and the levels of serum IgG responses to MTB in all subjects were determined.Results. AC and CC of 1513A>C and TC and CC of -762T>C had higher frequencies in case group than in control group. TB patients carrying TC and CC of -762T>C had higher positive rate of IgG responses to MTB than those carrying TT. Additionally, patients carrying TC and CC of -762T>C had more MTB in sputum than those carrying TT.Conclusion. P2X7 SNPs, 1513A>C and -762T>C, may be associated with the susceptibility to tuberculosis, and -762T>C SNP may contribute to the development of MTB. The mutant genotype of -762T>C (TC and CC) may lower human capability of phagocytosis to MTB, leading to an increased morbidity of TB.

Promoter activity of human tissue inhibitor of metalloproteinase 2 gene with novel single nucleotide polymorphisms

Respirology ◽  
2005 ◽  
Vol 10 (1) ◽  
pp. 27-30 ◽  
Author(s):  
Ahmed E. HEGAB ◽  
Tohru SAKAMOTO ◽  
Yoshiyuki UCHIDA ◽  
Akihiro NOMURA ◽  
Yukio ISHII ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Human Tissue ◽  
Promoter Activity ◽  
Tissue Inhibitor Of Metalloproteinase ◽  
Nucleotide Polymorphisms ◽  
Tissue Inhibitor ◽  
Single Nucleotide

Single Nucleotide Polymorphisms Alter the Promoter Activity of Bovine MIF

2011 ◽  
Vol 22 (3) ◽  
pp. 143-150 ◽  
Author(s):  
C. P. Verschoor ◽  
S. D. Pant ◽  
Q. You ◽  
F. S. Schenkel ◽  
D. F. Kelton ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Promoter Activity ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Single nucleotide polymorphisms of interleukins associated with hepatitis C virus infection in Egypt

2017 ◽  
Vol 11 (03) ◽  
pp. 261-268 ◽  
Author(s):  
Hany Khalil ◽  
Mohamed Arfa ◽  
Samir El-Masrey ◽  
Sherif M EL-Sherbini ◽  
Amal A Abd-Elaziz
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Single Nucleotide Polymorphisms ◽  
Critical Role ◽  
Interleukin 10 ◽  
High Rate ◽  
Enzyme Linked Immunosorbent Assay ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutant Genotype

Introduction: Hepatitis C is a liver disease caused by the hepatitis C virus (HCV). It can cause both acute and chronic hepatitis infection. Based on secretion of required cytokines upon infection, HCV can improve its own RNA and successfully complete the replication cycle. Importantly, single nucleotide polymorphisms (SNPs) are the most common type of genetic variation and have been found to play a critical role in modulation of cellular cytokine production and interaction. Methodology: A total of 100 blood samples were obtained from HCV patients, and 120 samples were obtained from healthy individuals who served as controls. SNPs of interleukin-10/592 (IL-10/592) and IL-4/589 were investigated for possible connection with HCV infection. Relative expression of IL-4, IL-6, and IL-10 were detected using real-time polymerase chain reaction and enzyme-linked immunosorbent assay Results: The polymorphisms of IL-10 revealed a high rate of mutant genotype CC within the location IL-10/592 in HCV patients and controls, which resulted in low secretion of IL-10. Interestingly, the findings here demonstrate a positive association between HCV load of viremia and the mutant genotype IL-4-589/TT accompanied with low expression IL-4 in comparison with IL-6 expression. Conclusions: These data suggest that the expression of IL-4 is inversely proportional to HCV load of viremia, and this connection is due to the high level of mutant genotype IL-4-589/TT in infected patients located in gene promoter and inhibits gene expression.  

scholarly journals Identification of Six novel missense single nucleotide polymorphisms in the MAOA gene predisposing to aggressive behavior. Bioinformatics study

2019 ◽  
Author(s):  
Abdelrahman H. Abdelmoenim ◽  
Mujahed I. Mustafa ◽  
Naseem S. Murshed ◽  
Nosiba S. Omer ◽  
Alaa I. Mohammed ◽  
...  
Keyword(s):  
Aggressive Behavior ◽  
Violent Behavior ◽  
Gene Interaction ◽  
Genetic Mutation ◽  
Monoamine Oxidase A ◽  
Individual Choice ◽  
Nucleotide Polymorphisms ◽  
Maoa Gene ◽  
And Behavior ◽  
Recent Experimental Work

AbstractBackgroundAn astonishing observation is that aggressive behavior is actually a highly heritable. Recent experimental work and behavior research has linked individual variation in a functional polymorphism of the monoamine oxidase-A gene (MAOA) to the occurrence of anger-driven aggression. Aggressive antisocial and violent behavior has become a regularly debated topic in the scientific community; the impending question is what is the source of aggressive behavior, is it genetic or environmental or is it just an individual choice. This study aims to analyses the SNPs found in MAOA gene and it is possible association to aggressive behavior.MethodVarious bioinformatics software (SIFT, PolyPhen-2, PROVEAN, SNAP22, SNP&GO and PMut)is used to analyses the SNPs within the MAOA gene to study the structural and functional implication on the associated protein, which is further clarified using chimera software. Then gene-gene interaction is studied with geneMANIA software. Furthermore, conservation and annotation studies were done through the ConSurf server and Variant Effect Predictor (VEP) respectively.ResultSix missense SNPs were found to affect the structural and functional prospect of MAOA protein.ConclusionGenetic mutation within MAOA is likely to be associated with aggressive behavior; this will enrich future management and screening possibilities for this behavior.

Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis

Blood ◽  
2008 ◽  
Vol 111 (1) ◽  
pp. 183-189 ◽  
Author(s):  
Michael B. Boffa ◽  
Deborah Maret ◽  
Jeffrey D. Hamill ◽  
Nazareth Bastajian ◽  
Paul Crainich ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mrna Stability ◽  
Promoter Activity ◽  
Nucleotide Polymorphisms ◽  
Mrna Transcript ◽  
Thrombin Activatable Fibrinolysis Inhibitor ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Fibrinolysis Inhibitor ◽  
Flanking Region

Thrombin-activable fibrinolysis inhibitor (TAFI) is a plasma zymogen that acts as a molecular link between coagulation and fibrinolysis. Numerous single nucleotide polymorphisms (SNPs) have been identified in CPB2, the gene encoding TAFI, and are located in the 5′-flanking region, in the coding sequences, and in the 3′-untranslated region (UTR) of the CPB2 mRNA transcript. Associations between CPB2 SNPs and variation in plasma TAFI antigen concentrations have been described, but the identity of SNPs that are causally linked to this variation is not known. In the current study, we investigated the effect of the SNPs in the 5′-flanking region on CPB2 promoter activity and SNPs in the 3′-UTR on CPB2 mRNA stability. Whereas the 5′-flanking region SNPs (with 2 exceptions) did not have a significant effect on promoter activity, either alone or in haplotypic combinations seen in the human population, all of the 3′-UTR SNPs substantially affected mRNA stability. We speculate that these SNPs, in part, contribute to variation in plasma TAFI concentrations via modulation of CPB2 gene expression through an effect on mRNA stability.

Association between single nucleotide polymorphisms of DNA damage response pathway genes and increased risk in breast cancer

2020 ◽  
Vol 16 (26) ◽  
pp. 1977-1995
Author(s):  
Azhar Mehmood ◽  
Mahmood Akhtar Kayani ◽  
Malik Waqar Ahmed ◽  
Asif Nisar ◽  
Ishrat Mahjabeen
Keyword(s):  
Dna Damage ◽  
Single Nucleotide Polymorphisms ◽  
Dna Damage Response ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Increased Risk ◽  
Damage Response ◽  
Homozygous Mutant ◽  
Dna Damage Response Pathway

Aim: We aimed to evaluate the role of selected single nucleotide polymorphisms of DNA damage response pathway genes in breast cancer (BC). Materials & methods: In present study, 500 BC patients and 500 controls was used to estimate the frequency of single nucleotide polymorphisms of DNA damage response pathway genes. Tetra-amplification refractory mutation system-PCR technique was used for screening of the six selected polymorphisms. Results: Logistic regression analysis showed that heterozygous mutant genotype of rs1800057 (p < 0.0001) and homozygous mutant genotype of rs1801516 (p < 0.0001) was associated with significant increased risk of BC. In the ATR gene, heterozygous mutant genotype of rs2227931 (p < 0.0001) was associated with significant increased risk of BC. However, significant decreased risk of BC was found associated with heterozygous mutant genotype of rs2227928 (p < 0.0002) and homozygous mutant genotype of rs2229032 (p < 0.0001) in patients compared with controls. Conclusion: The present results showed that alteration in DNA damage response pathway gene ( ATM & ATR) results in increased BC risk.

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