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 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 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.

scholarly journals Identification of 1093-bp intron A, SNPS and indels discovered in the porcine pregnancy-associated glycoprotein 2-like (pPAG2-L) gene subfamily in pigs

Genetika ◽  
2020 ◽  
Vol 52 (3) ◽  
pp. 851-866
Author(s):  
Martyna Bieniek-Kobuszewska ◽  
Grzegorz Panasiewicz ◽  
Bożena Szafranska
Keyword(s):  
Genetic Variation ◽  
Single Nucleotide Polymorphisms ◽  
General Knowledge ◽  
Nucleotide Polymorphisms ◽  
Porcine Genome ◽  
Large White ◽  
Bac Clone ◽  
Single Nucleotide ◽  
Noncoding Regions ◽  
Gene Subfamily

The objective of this study was to identify the intron A sequence (between exons 1 and 2) of pPAG2-L, novel single nucleotide polymorphisms (SNPs) and mutations (InDels) within intron A in the crossbreed (Landrace x Large White), Hirshmann hybrid and Duroc pigs. Genomic templates were isolated from leukocytes, amplified, and the gel-out were purified and then sequenced. Positive amplification control included CH242-60C13 BAC clone (Duroc) containing pPAG1-L and pPAG2-L. This is the first report that describes the 1093-bp intron A sequence from the pPAG2-L (Acc. No. KF471015; GenBank), which increased general knowledge of the porcine genome. Novel SNPs/InDels were identified within the intron A of the pPAG2-L in the crossbreeds (72), Duroc (45) and Hirshmann hybrids (17). This is a pioneer study describing identification of the intron A and SNPs/InDels in crossbreeds that provides a novel major pattern that represents a large portion of the genetic variation within the porcine genome. This information should be valuable when genotyping (coding and noncoding regions) multiparous sows from many breeds, in which reproductive phenotypes are known.

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.  

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