scholarly journals Identification of point mutations in exon 2 of GDF9 gene in Kermani sheep

2016 ◽  
Vol 19 (2) ◽  
pp. 281-289 ◽  
Author(s):  
R. Khodabakhshzadeh ◽  
M.R. Mohammadabadi ◽  
A.K. Esmailizadeh ◽  
H. Moradi Shahrebabak ◽  
F. Bordbar ◽  
...  
Keyword(s):  
Transforming Growth Factor ◽  
Point Mutations ◽  
Transforming Growth Factor Β ◽  
Nucleotide Polymorphisms ◽  
Salting Out ◽  
Single Nucleotide ◽  
Banding Patterns ◽  
Exon 2 ◽  
Pcr Products ◽  
Silver Nitrate Staining

Abstract Screening the fertile ewes from national herds to detect the major genes for prolificacy is an effective way to create the fertile flocks. Growth differentiation factor (GDF) 9 is a member of the transforming growth factor β superfamily that is essential for folliculogenesis and female fertility. The aim of this study was to detect single nucleotide polymorphisms (SNPs) in exon 2 of GDF9 gene in Kermani sheep breed using PCR-SSCP. Genomic DNA was extracted from whole blood of collected samples using salting-out method. Whole exon 2 of GDF9 gene was amplified (634 bp and 647 bp fragments) using designed specific primers. The single stranded conformation polymorphism (SSCP) patterns of PCR products were studied using electrophoresis on acrylamide gel and silver-nitrate staining method. Finally, 4 banding patterns for the first primer pair and 4 banding patterns for the second primer pair were obtained. Also, indices of population genetic per SNP were calculated using Gen Alex 6.41 software. The sequencing results showed the presence of 3 mutations (SNP) (443, 477 and 721 positions) in the studied population.

Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome

Cardiology ◽  
2017 ◽  
Vol 138 (3) ◽  
pp. 179-185 ◽  
Author(s):  
Sarah M. Lima ◽  
Antonios A. Pitsis ◽  
Timotheos G. Kelpis ◽  
Mohamed H. Shahin ◽  
Taimour Y. Langaee ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Matrix Metalloproteinase ◽  
Mitral Valve Prolapse ◽  
Odds Ratio ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Matrix Metalloproteinase 2 ◽  
Nucleotide Polymorphisms ◽  
Collagen Turnover ◽  
Single Nucleotide

Background: It has been suggested that collagen abnormalities of the mitral valve are present in patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP). Genetic factors determining collagen synthesis and degradation have not been well defined in these patients. This study was undertaken to determine whether selective polymorphisms of matrix metalloproteinase-2 (MMP2) or transforming growth factor-β (TGFβ), with known or putative effects on collagen turnover, are more frequent in FMV/MVP. Methods: Single nucleotide polymorphisms (SNPs) in select genes related to collagen turnover, including MMP2 rs2285053, MMP2 rs243865, TGFβ1 rs1800469, and TGFβ2 rs900, were determined in 98 patients with FMV/MVP who had severe mitral regurgitation and compared to 99 controls. Results:MMP2 rs243865 was the only SNP significantly associated with FMV/MVP as compared to the control (odds ratio 2.07, 95% CI 1.23-3.50, p = 0.006). MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032). Conclusion: The frequency of certain MMP2 polymorphisms is higher in patients with the FMV/MVP syndrome and patients with FMV/MVP without the syndrome. The data suggest that a genetic predisposition that alters collagen turnover may play a role in the pathogenesis and development of FMV/MVP.

scholarly journals Identification of Polymorphisms in GDF9 and BMP15 Genes in Jamunapari and Crossbred Goats in Bangladesh

2021 ◽  
Author(s):  
Mishuk shaha ◽  
Gous Miah ◽  
Arjuman Lima ◽  
Omar Faruk Miazi ◽  
Ashutosh Das
Keyword(s):  
Litter Size ◽  
Future Research ◽  
Nucleotide Polymorphisms ◽  
Cycle Sequencing ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Morphogenetic Protein ◽  
Significant Difference ◽  
Growth Differentiation Factor 9 ◽  
Pcr Products

Abstract Growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) are two crucial fecundity genes 15 associated with litter size traits in the goat. Our previous study on GDF9 and BMP15 genes detected single nucleotide polymorphisms (SNPs) associated with litter size in Bangladeshi Black Bengal goats. In this study, Jamunapari and crossbred goats of Bangladesh were screened to identify polymorphisms in the GDF9 and BMP15 genes and to assess the association between identified SNPs and litter size. The genomic DNA from 100 goats (50 Jamunapari and 50 crossbred) was used in Polymerase Chain Reaction (PCR) to amplify the exon 2 of the GDF9 and exon 2 of the BMP15 gene. PCR products were sequenced employing the BigDye Terminator cycle sequencing protocol, to identify SNPs. A generalized linear model was utilized to perform the association analysis for identified SNPs and litter size. Seven SNPs were identified, of which four: C818CT, G1073A, G1189A and G1330T were in the GDF9 gene, three: G616T, G735A and G811A were in the BMP15 gene. G735A was a synonymous SNP, whereas the remaining were non-synonymous SNPs. Identified SNP loci in GDF9 were low polymorphic (PIC<0.25) while loci in BMP15 were moderately polymorphic (PIC≥0.25). The genotypes at the G1330T locus had a significant (p<0.05) difference in litter size in Jamunapari goat, but no significant difference was observed for all genotypes at other loci. This study provides additional molecular markers that would be useful for future research on the litter size trait in goats of Bangladesh.

scholarly journals Novel Single Nucleotide Polymorphisms of Lysozyme (C-Type) Gene in Donkey (Equus Asinus) Populations in Marmara Province of Turkey

2020 ◽  
Vol 8 (2) ◽  
pp. 495
Author(s):  
Raziye Işık
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Pathogenic Bacteria ◽  
Nucleotide Polymorphisms ◽  
Milk Traits ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Equus Asinus ◽  
Pcr Products ◽  
Exon 1 ◽  
Type Gene

The major antimicrobial proteins in donkey milk are lysozyme, lactoferrin, lactoperoxidase and immunoglobulins. Lysozyme has an important role in the host defense by way it inhibits the pathogenic bacteria. The aim of this study is to investigate the Lysozyme (LYZ) gene polymorphism in 82 donkeys reared in Thrace region of Turkey. 716 bp long partial 5’ UTR, exon 1, intron 1, exon 2 regions of LYZ gene were amplified and PCR products were analyzed via DNA sequencing. Three novel single nucleotide polymorphisms (SNPs) were identified as g.1782775A>G, g.1782924A>G and g.1782960T>C in the first intron of LYZ gene. The partial DNA sequence of LYZ gene in donkeys was reported in the present study and sequences of LYZ were entered to NCBI Genbank database with the accession number: MK984689-MK984692. This SNP may have an effect on immune system and milk traits in donkeys and additional studies are needed to confirm this assumption for donkey breeding.

scholarly journals 173 The role of an intronic single nucleotide polymorphism within the dopamine receptor type-2 gene on pituitary prolactin protein expression in bulls

2020 ◽  
Vol 98 (Supplement_2) ◽  
pp. 37-37
Author(s):  
Andrea N DeCarlo ◽  
Keelee J McCarty ◽  
Sarah K Richey ◽  
Nathan Long ◽  
Scott Pratt
Keyword(s):  
Protein Expression ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Genotypic Effect ◽  
Single Nucleotide ◽  
Detection Range ◽  
Cull Cows ◽  
Densitometry Analysis ◽  
Pcr Products

Abstract Detrimental effects to male reproductive physiology have been observed due to changes in prolactin (PRL) serum concentration. Regulation of PRL by dopamine binding to the dopamine type-2 receptor (DRD2) is well defined and associations between male physiology and single nucleotide polymorphisms (SNPs) within the DRD2 gene have been observed. The objective of the study was to evaluate association of a DRD2 SNP to PRL protein expression in bulls. Testis and epididymis were collected from bulls grazing a forage containing or lacking a dopamine agonist at the end of a 126 d study (n = 14). Bovine pituitaries (n = 587) were collected randomly over 3 mo from a local abattoir which processes cull cows and bulls. Sex of pituitaries was verified (n = 259 males) by duplex PCR for amplification of SRY and b-actin followed by Southern blotting of PCR products for selection of male. Prolactin protein expression was assessed in testis, epididymis, and pituitary by western blotting. Expression of PRL protein was below detection range in reproductive tissues but was present in pituitary, therefore experiments continued in pituitary. Restriction fragment length polymorphism genotyping was performed on pituitaries by amplification of the DRD2 SNP region followed by digestion with a Tfil enzyme. Digested of products produced 3,2, or 1 band (AG, AA, GG, respectively). A subset of male pituitaries was blotted by slot blot manifold and PRL protein expression assessed by immunodetection and densitometry analysis normalized to GAPDH expression. Pituitary genotype distribution was 17.4% AA (n = 16), 63% AG (n = 58), and 19.6% GG (n = 18). Prolactin protein expression in the pituitary was similar across genotype (P = 0.23). These findings indicate that the DRD2 SNP has no genotypic effect on PRL protein expression in bovine pituitary.

scholarly journals Determinants That Control the Specific Interactions between TAB1 and p38α

2006 ◽  
Vol 26 (10) ◽  
pp. 3824-3834 ◽  
Author(s):  
Huamin Zhou ◽  
Min Zheng ◽  
Jianming Chen ◽  
Changchuan Xie ◽  
Anand R. Kolatkar ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Conformational Changes ◽  
Transforming Growth Factor ◽  
Mutational Analysis ◽  
Specific Binding ◽  
Point Mutations ◽  
Transforming Growth Factor Β ◽  
Mitogen Activated Protein Kinase ◽  
Docking Site ◽  
C Terminus

ABSTRACT Previous studies have revealed that transforming growth factor-β-activated protein kinase 1 (TAB1) interacts with p38α and induces p38α autophosphorylation. Here, we examine the sequence requirements in TAB1 and p38α that drive their interaction. Deletion and point mutations in TAB1 reveal that a proline residue in the C terminus of TAB1 (Pro412) is necessary for its interaction with p38α. Furthermore, a cryptic D-domain-like docking site was identified adjacent to the N terminus of Pro412, putting Pro412 in the φB+3 position of the docking site. Through mutational analysis, we found that the previously identified hydrophobic docking groove in p38α is involved in this interaction, whereas the CD domain and ED domain are not. Furthermore, chimeric analysis with p38β (which does not bind to TAB1) revealed a previously unidentified locus of p38α comprising Thr218 and Ile275 that is essential for specific binding of p38α to TAB1. Converting either of these residues to the corresponding amino acid of p38β abolishes p38α interaction with TAB1. These p38α mutants still can be fully activated by p38α upstream activating kinase mitogen-activated protein kinase kinase 6, but their basal activity and activation in response to some extracellular stimuli are reduced. Adjacent to Thr218 and Ile275 is a site where large conformational changes occur in the presence of docking-site peptides derived from p38α substrates and activators. This suggests that TAB1-induced autophosphorylation of p38α results from conformational changes that are similar but unique to those seen in p38α interactions with its substrates and activating kinases.

Abstract 15318: Association of Single-Nucleotide Polymorphisms with Left Atrial Scar in Patients with Atrial Fibrillation

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Sanghamitra Mohanty ◽  
Amelia W Hall ◽  
Prasant Mohanty ◽  
Chintan Trivedi ◽  
Luigi Di Biase ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Left Atrial ◽  
Transforming Growth Factor ◽  
Univariate Analysis ◽  
Scar Formation ◽  
Taqman Assay ◽  
Inverse Association ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Caveolin 1

Introduction: Earlier studies have demonstrated that some AF patients develop spontaneous atrial scarring that leads to genesis and perpetuation of the arrhythmia. However, it is still unclear why it happens in some and not in others. Therefore, we hypothesized that the atrial scar phenotype is associated with certain specific genetic variants and examined the relationship between AF-related single-nucleotide polymorphisms (SNP) and left atrial scar. Methods: Four hundred AF patients (67% male, 62±12 year, left atrial size 45.3±7 mm, 64% non-paroxysmal) undergoing catheter ablation were prospectively enrolled at our center. DNA extraction and genotyping for 16 AF-associated SNPS identified by GWAS study were performed from the collected blood samples using Qiagen QiaAMP 96 well blood kit and TaqMan assay respectively. Three hundred seventy-two DNA samples were available for genotyping. The Hardy-Weinberg equilibrium was assessed using Chi-square analyses. Multivariable logistic model was utilized to identify predictors of LA scar after adjusting for age, gender, LA size, hypertension and diabetes mellitus and odds ratio (OR) and 95% confidence intervals were computed. Results: Of all 16 SNPs, rs3807989 showed a strong inverse association with LA scar at univariate analysis (0.54 [0.348-0.89] p= 0.014) in the overall population. After adjustment for covariates, the association became highly significant indicating a 50% reduction in scar risk (OR 0.50 (0.30-0.83) p=0.007). When stratified by type of AF, rs3807989 genotype predicted a substantially stronger 69% risk-reduction in the non-PAF population (OR 0.31 (0.15-0.62) p=0.0009). Conclusion: The SNP, rs3807989 on chromosome 7p31, was demonstrated to be associated with reduced risk of left atrial scar formation in AF patients. This genetic variant is located in close proximity to the caveolin-1 gene which is known to have an anti-fibrotic role by inhibiting transforming growth factor-β1, a key mediator in the fibrosis process. Therefore, it can be postulated that by some unknown mechanism the candidate chromosomal variant potentially upregulates caveolin-1 function resulting in attenuation of fibrosis and scar formation.

scholarly journals Distribution of QPY and RAH haplotypes of granzyme B gene in distinct Brazilian populations

2012 ◽  
Vol 45 (4) ◽  
pp. 496-499
Author(s):  
Fernanda Bernadelli Garcia ◽  
Simone Kashima ◽  
Evandra Strazza Rodrigues ◽  
Israel Tojal Silva ◽  
Tathiane Maistro Malta ◽  
...  
Keyword(s):  
Granzyme B ◽  
Treatment Strategies ◽  
Cytotoxic Lymphocytes ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Significant Difference ◽  
Novel Treatment Strategies ◽  
Brazilian Populations ◽  
Afro Brazilian

INTRODUCTION: The cytolysis mediated by granules is one of the most important effector functions of cytotoxic T lymphocytes and natural killer cells. Recently, three single nucleotide polymorphisms (SNPs) were identified at exons 2, 3, and 5 of the granzyme B gene, resulting in a haplotype in which three amino acids of mature protein Q48P88Y245 are changed to R48A88H245, which leads to loss of cytotoxic activity of the protein. In this study, we evaluated the frequency of these polymorphisms in Brazilian populations. METHODS: We evaluated the frequency of these polymorphisms in Brazilian ethnic groups (white, Afro-Brazilian, and Asian) by sequencing these regions. RESULTS: The allelic and genotypic frequencies of SNP 2364A/G at exon 2 in Afro-Brazilian individuals (42.3% and 17.3%) were significantly higher when compared with those in whites and Asians (p < 0.0001 and p = 0.0007, respectively). The polymorphisms 2933C/G and 4243C/T also were more frequent in Afro-Brazilians but without any significant difference regarding the other groups. The Afro-Brazilian group presented greater diversity of haplotypes, and the RAH haplotype seemed to be more frequent in this group (25%), followed by the whites (20.7%) and by the Asians (11.9%), similar to the frequency presented in the literature. CONCLUSIONS: There is a higher frequency of polymorphisms in Afro-Brazilians, and the RAH haplotype was more frequent in these individuals. We believe that further studies should aim to investigate the correlation of this haplotype with diseases related to immunity mediated by cytotoxic lymphocytes, and if this correlation is confirmed, novel treatment strategies might be elaborated.

Sign in / Sign up

Export Citation Format

Share Document