Analysis of porcine OSBPL5 gene allelic expression in skeletal muscle and association of a single-nucleotide polymorphism in the coding region with production traits

2019 ◽  
Vol 99 (4) ◽  
pp. 914-920
Author(s):  
Meng Wang ◽  
Deli Wei ◽  
Guiling Cao ◽  
Guiyu Zhu ◽  
Yunliang Jiang

Genes that exhibit allelic expression imbalance and imprinted genes play important roles in the survival of the embryo and postnatal growth regulation. In this study, the porcine oxysterol-binding protein-related 5 (OSBPL5) gene was examined, and the 2140G>A mutation (rs318687202) was found in its coding region by a comparison of Laiwu and Landrace pigs. By allele-specific expression analysis based on a specific single-nucleotide polymorphism (SNP), the imprinting status of OSBPL5 gene in skeletal muscle from both neonate and adult pigs was determined. The results showed that the OSBPL5 was paternally imprinted in skeletal muscle from adults but biallelically expressed with predominantly maternal imprinting in neonates. The distribution of the 2140G>A SNP in four pig populations was analyzed, which showed that GG genotype was dominant in Duroc and Dapulian populations, whereas the AG genotype was dominant in Junmu-1 and Laiwu populations. Pigs with the GG genotype had significantly larger litters and greater cannon bone circumferences but a lower average daily gain than pigs with the AA genotype. In conclusion, we determined the difference in the allelic expression of OSBPL5 between adult and neonate pigs and identified an SNP in its coding region that is associated with production traits.

2020 ◽  
Vol 17 (35) ◽  
pp. 174-180
Author(s):  
Salah H. FARAJ ◽  
Asaad Y. AYIED ◽  
D. K. SEGER

Several polymorphisms in different gene loci have been noted to affect production traits such as milk yield and milk composition. The present study aimed to determine the allelic and genotypic frequency of the DGAT1 gene and evaluate the associations between DGAT1 genetic variants and milk yield and its chemical composition of local Iraqi cattle. Blood samples from 100 cows were obtained for DNA isolation. The primer used in this study amplified 411-bp fragments at exon 8 of the DGAT1 gene. DNA sequencing methods were applied to detect single nucleotide polymorphism of the DGAT1 gene in 100 cows. The nucleotide sequences of exon 8 of the DGAT1 gene were registered for local Iraqi cattle in the National Center for Biotechnology Information (NCBI), DNA Data Bank of Japan (DDBJ), and the European Nucleotide Archive (ENA) under the following accession numbers (LC492073 and LC492074). The results showed the presence of two polymorphic sites leading to the construction of 2 different haplotypes in the cow. Haplotype diversity was 0.536, while nucleotide diversity was 0.0031. Two single-nucleotide polymorphism (SNP) loci of the DGAT1 gene were detected, namely A10433G (A/G) and A10434C (A/C). The resulting of this mutation changes lysine to alanine substitution at position 232 (A232K mutation) of amino acid sequence. Geneious software V. 2020.0.4 was used to detect genotypes of the DGAT1 gene, as the sequence alignment showed the presence of three genotypes. The genotypic frequencies of KK, KA, and AA were 0.40, 0.30, and 0.30, respectively. Frequencies of K and A alleles were 0.60 and 0.40, respectively. The KK genotype was significantly (P 0.05) associated with higher fat yield. Therefore, the DGAT1 gene could serve as a genetic marker for the selection of fat yield in cows.


2009 ◽  
Vol 37 (1) ◽  
pp. 491-495 ◽  
Author(s):  
Luca Fontanesi ◽  
Emilio Scotti ◽  
Luca Buttazzoni ◽  
Stefania Dall’Olio ◽  
Roberta Davoli ◽  
...  

2020 ◽  
Vol 23 (3) ◽  
pp. 295-303
Author(s):  
D. Gencheva

In the present study, single nucleotide polymorphism in exon II of the β-lactoglobulin gene was investigated in four Bulgarian sheep breeds: Bulgarian Dairy Synthetic Population sheep (BDSP), Copper-red Shumen sheep (CRSH), Stara Zagora sheep (STZG) and Pleven Blackhead sheep (PLBH). Two genetic variants of β-LG gene (A and B) have been identified through PCR-RFLP assay. A 103 bp fragment of the polymorphic β-LG locus were amplified and digested with endonuclease enzyme RsaI. The obtained restriction fragments revealed three genotypes: AA, AB and BB, observed in 31%, 65.5% and 3.5% of the BDSP population and in 48%, 28% and 24% of CRSH sheep population, respectively, with departure from the Hardy-Weinberg equilibrium (P<0.05) in these groups. The allele frequencies demonstrated a prevalence of the A allele (0.638 and 0.620) over the B allele (0.362 and 0.380) in both populations. On the contrary, the distribution of allele frequencies in STZG and PLBH was 0.240 and 0.100 for allele A, respectively and 0.760 and 0.900 for allele B. Therefore, the homozygous BB genotype in these sheep populations was more frequently encountered (0.520 and 0.800) than the heterozygous AB genotype (0.480 and 0.200), with HWE correspondence (P>0.1). The homozygous genotype AA was absent in STZG and PLBH sheep populations. The greatest Nei’s genetic distance calculated by UPGMA method was found between the populations BDSPand PLBH (0.5334), while the closest relationship (0.0006) was established between CRSH and BDSP. The results obtained from the present investigation confirmed the presence of the SNP polymorphism in exon II of the β-lactoglobulin gene. Therefore, the genetic variability established in this polymorphic locus could be applied in further association studies with milk production traits in sheep.


2016 ◽  
Vol 15 (2) ◽  
Author(s):  
P.S.N. de Oliveira ◽  
P.C. Tizioto ◽  
W. Malago Jr ◽  
M.L. do Nascimento ◽  
A.S.M. Cesar ◽  
...  

2021 ◽  
Author(s):  
Asmita Ghosh ◽  
Dattatreya Mukherjee ◽  
Parth Patel ◽  
Debraj Mukhopadhyay

Single nucleotide polymorphism is a genetic substitution of a base pair at a single position of the genome. SNPs are a common phenomenon and influence mRNA expression. Half of the SNPs occur in the non-coding region with 25% being mis-sense mutation and 25% being silent mutations. SNPs belong to the last generation of molecular markers which is identified through SNP mapping. SNPs are extensively studied to distinguish genetic expression and protein synthesis. These genetic differences are a major source of diseases in humans like cancers. One of the most common types of cancer of the brain is the Glioblastoma Multiforme that accounts for more than 80% of the malignant primary brain tumors (PBT). Researchers have found out a potential role of various SNPs in the genome to have a strong relation with Glioma formation and proliferation. Most SNPs are either not discovered, or their biological mechanisms are unknown, making it difficult to link putative associations with disease onset. The given review aims to identify some of the most common SNPs associated with GBM and classify the genetic basis along with future prospects. These SNPs are pioneer in Genome Wide Association studies to help in cancer research and identification of specific genetic alterations liked to GBM. Single Nucleotide Polymorphisms in a gene can be used as genetic biomarkers to aid better understanding of the mechanism of cancer formation, its aetiology, progression and metastatic behaviour.


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