scholarly journals Polymorphism identification in the goat MSTN gene and association analysis with growth traits

2011 ◽  
Vol 56 (No. 12) ◽  
pp. 529-535 ◽  
Author(s):  
X.P. An ◽  
J.G. Wang ◽  
J.X. Hou ◽  
H.B. Zhao ◽  
L. Bai ◽  
...  
Keyword(s):  
Body Weight ◽  
Growth Traits ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Dairy Goats ◽  
Single Nucleotide ◽  
Mstn Gene ◽  
Dna Sequencing Analysis ◽  
Boer Goats ◽  
T Locus

The myostatin (MSTN) gene was studied as a candidate genetic marker for growth traits. We investigated polymorphisms of the MSTN gene in 664 individuals from four goat populations and applied PCR-SSCP and DNA sequencing analysis to reveal two single nucleotide polymorphisms (DQ167575: g.368A&gt;C (p.Lys49Thr) and g.4911C&gt;T. At g.368A&gt;Clocus, the frequencies of g.368A allele were 0.75&ndash;0.81, and the frequencies of g.368C allele were 0.19&ndash;0.25. At g.4911C&gt;T locus, the frequencies of g.4911C allele were 0.76&ndash;0.82, and frequencies of g.4911T allele were 0.18&ndash;0.24. Compared to the female goats with AC genotype, those with AA genotype had superior body weight in Boer goats (15.69 &plusmn; 0.28 vs. 14.51 &plusmn; 0.31, P &lt; 0.05) and F<sub>1</sub> generation of Boer &times; Guanzhong dairy goats (19.39 &plusmn; 0.34 vs. 18.27 &plusmn; 0.33, P &lt; 0.05). In addition, the female goats with AA genotype (45.80 &plusmn; 0.33 cm) had greater withers height than those with AC genotype (44.78 &plusmn; 0.36 cm) in F<sub>2</sub> generation of Boer &times; Guanzhong dairy goats (P &lt; 0.05). Hence, the biochemical and physiological functions along with the results obtained in our investigation suggest that the MSTN gene might play an important role in affecting the growth traits in goats.&nbsp;

scholarly journals Correlating single nucleotide polymorphisms in the myostatin gene with performance traits in rabbit

2016 ◽  
Vol 24 (3) ◽  
pp. 213 ◽  
Author(s):  
E.M. Abdel-Kafy ◽  
S.F. Darwish ◽  
D. ElKhishin
Keyword(s):  
Body Weight ◽  
Weight Gain ◽  
Single Nucleotide Polymorphisms ◽  
Untranslated Region ◽  
Carcass Traits ◽  
Reproductive Traits ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mstn Gene ◽  
Positive Effects

The Myostatin (MSTN), or Growth and Differentiation Factor 8 (GDF8), gene has been implicated in the double muscling phenomenon, in which a series of mutations render the gene inactive and unable to properly regulate muscle fibre deposition. Single nucleotide polymorphisms (SNPs) in the MSTN gene have been correlated to production traits, making it a candidate target gene to enhance livestock and fowl productivity. This study aimed to assess any association of three SNPs in the rabbit MSTN gene (c.713T&gt;A in exon 2, c.747+34C&gt;T in intron 2, and c.*194A&gt;G in 3’-untranslated region) and their combinations, with carcass, production and reproductive traits. The investigated traits included individual body weight, daily body weight gain, carcass traits and reproductive traits. The 3 SNPs were screened using PCR-restriction fragment length polymorphism (RFLP)-based analysis and the effects of the different SNP genotypes and their combinations were estimated in a rabbit population. Additionally, additive and dominance effects were estimated for significant traits. The results found no significant association between the c.713 T&gt;A SNP and all the examined traits. Allele T at the c.747+34C&gt;T SNP was only significantly associated (P&lt;0.05) with increased body weight at 12 wk of age. However, for the SNP residing in the 3’ untranslated region (c.*194A&gt;G), allele G was significantly associated (P&lt;0.05) with increased body weight and high growth rate. Genotype GG at the c.*194A&gt;G SNP also had positive effects on most carcass traits. The estimated additive genetic effect for the c.*194A&gt;G SNP was significant (P&lt;0.05) with most body weight, daily gain and carcass traits. No significant association was obtained between any MSTN SNPs and reproductive traits. In the combinations analysis, regardless of the genotypes of SNPs at c.713T&gt;A and c.747+34C&gt;T, GG at the c.*194A&gt;G SNP correlated with highest values in body weight and daily weight gain. In conclusion, the ‘G’ allele at the c.*194A&gt;G SNP had positive effects on growth and carcass traits and so could be used as a favourable allele in planning rabbit selection. Further population-wide studies are necessary to test the association of the c.*194A&gt;G SNP with carcass traits. We also recommend evaluation of the potential effects of the c.*194A&gt;G SNP on MSTN gene expression.

scholarly journals Genetic variations in the Myostatin gene affecting growth traits in sheep

2021 ◽  
Vol 14 (2) ◽  
pp. 475-482
Author(s):  
Noha M. Osman ◽  
Heba I. Shafey ◽  
Mohamed A. Abdelhafez ◽  
Ahmed M. Sallam ◽  
Karima F. Mahrous
Keyword(s):  
Growth Traits ◽  
Direct Sequencing ◽  
Muscle Growth ◽  
Daily Weight Gain ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Breeding Programs ◽  
Myostatin Gene ◽  
Mstn Gene ◽  
First Intron

Background and Aim: Sheep productivity in developing countries is crucial, as this animal is an essential source of meat and wool. Myostatin (MSTN) plays an important role in the regulation of muscle mass through the regulation of muscle growth, differentiation, and regeneration. The present study sought to investigate genetic variation in the first intron of the MSTN gene and the association of variants with growth traits in major sheep breeds in Egypt (Barki, Ossimi, and Rahmani) and Saudi Arabia (Najdi) using polymerase chain reaction (PCR) and sequencing. Materials and Methods: Blood samples were collected, and DNA was extracted from 75 animals. A 386 bp fragment in the first intron of the MSTN gene was amplified using PCR. Polymorphic sites were detected using direct sequencing and then correlated with growth traits using a general linear model. Results: Sequence analysis of the first intron of MSTN gene identified six single-nucleotide polymorphisms (SNPs) in the studied breeds. Four mutual SNPs were determined: c.18 G>T, c.241 T>C, c.243 G>A, and c.259 G>T. In addition, two SNPs c.159 A>T and c.173 T>G were monomorphic (AA and TT, respectively) in the Ossimi, Rahmani, and Najdi breeds and polymorphic in the Barki breed. The association analysis revealed that the c.18 G>T and c.241 C>T significantly associated (p<0.05) with birth weight and average daily weight gain, respectively. Conclusion: Our results strongly support MSTN as a candidate gene for marker-assisted selection in sheep breeding programs. Furthermore, the identified variants may be considered as putative markers to improve growth traits in sheep.

scholarly journals Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci

Genes ◽  
2019 ◽  
Vol 10 (7) ◽  
pp. 547 ◽  
Author(s):  
Peng Zhang ◽  
Lori S. Tillmans ◽  
Stephen N. Thibodeau ◽  
Liang Wang
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Protein Binding ◽  
Prostate Cancer Risk ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Variants ◽  
Dependent Protein

Genome-wide association studies have identified over 150 risk loci that increase prostate cancer risk. However, few causal variants and their regulatory mechanisms have been characterized. In this study, we utilized our previously developed single-nucleotide polymorphisms sequencing (SNPs-seq) technology to test allele-dependent protein binding at 903 SNP sites covering 28 genomic regions. All selected SNPs have shown significant cis-association with at least one nearby gene. After preparing nuclear extract using LNCaP cell line, we first mixed the extract with dsDNA oligo pool for protein–DNA binding incubation. We then performed sequencing analysis on protein-bound oligos. SNPs-seq analysis showed protein-binding differences (>1.5-fold) between reference and variant alleles in 380 (42%) of 903 SNPs with androgen treatment and 403 (45%) of 903 SNPs without treatment. From these significant SNPs, we performed a database search and further narrowed down to 74 promising SNPs. To validate this initial finding, we performed electrophoretic mobility shift assay in two SNPs (rs12246440 and rs7077275) at CTBP2 locus and one SNP (rs113082846) at NCOA4 locus. This analysis showed that all three SNPs demonstrated allele-dependent protein-binding differences that were consistent with the SNPs-seq. Finally, clinical association analysis of the two candidate genes showed that CTBP2 was upregulated, while NCOA4 was downregulated in prostate cancer (p < 0.02). Lower expression of CTBP2 was associated with poor recurrence-free survival in prostate cancer. Utilizing our experimental data along with bioinformatic tools provides a strategy for identifying candidate functional elements at prostate cancer susceptibility loci to help guide subsequent laboratory studies.

scholarly journals Polymorphisms in the Chicken Growth Differentiation Factor 9 Gene Associated with Reproductive Traits

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
Lingbin Liu ◽  
Zhifu Cui ◽  
Qihai Xiao ◽  
Haihan Zhang ◽  
Xiaoling Zhao ◽  
...  
Keyword(s):  
Body Weight ◽  
Single Nucleotide Polymorphisms ◽  
Gene Polymorphisms ◽  
Reproductive Traits ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Rt Pcr ◽  
Single Nucleotide ◽  
Egg Weight ◽  
Growth Differentiation Factor 9

The aim of the study was to investigateGDF9gene polymorphisms and their association with reproductive traits in chicken using DNA sequencing. A total of 279 Dongxiang blue-shelled (DX) chickens and 232 Luhua (LH) chickens were used for validation. We detected 15 single nucleotide polymorphisms (SNPs): nine SNPs were previously unreported in chicken, two were missense mutations, and only three exhibited significant associations with reproductive traits. G.17156387C>T was significantly associated with age at first egg (AFE) and weight of first egg (WFE) in both breeds. Birds carrying the CC genotype exhibited higher AFE and WFE values than those with the TT genotype. The SNP g.17156427A>G exhibited an association with egg weight at 300 days of age (EWTA) in DX but not in LH chickens. The SNP g.17156703A>C affected the AFE and EN (total number of eggs at 300 days of age) in DX chickens. In addition, certain diplotypes significantly affected AFE, BWTA (body weight at 300 days of age), and EN in both breeds. RT-PCR results showed that theGDF9gene was highly expressed in stroma with cortical follicles (STR) and prehierarchal follicles. These results provided further evidence that theGDF9gene is involved in determining reproductive traits in chicken.

scholarly journals Melanocortin-4 Receptor (MC4R) gene polymorphism and its effect on growth traits in Madura cattle

2019 ◽  
Vol 44 (1) ◽  
pp. 38
Author(s):  
P. W. Prihandini ◽  
S. Sumadi ◽  
G. Suparta ◽  
D. Maharani
Keyword(s):  
Growth Traits ◽  
Balance Control ◽  
Direct Sequencing ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Pcr Rflp ◽  
Reverse Primer ◽  
Selection For

Melanocortin-4 receptor (MC4R) gene has an important role in the regulation of feed intake and energy balance control. The objective of this study was to identify the single nucleotide polymorphisms (SNPs) of MC4R gene and their association with growth traits in Madura cattle. A total of 198 calves were used in this study.Forward primer: 5’-GTCGGGCGTCTTGTTCATC-3’and reverse primer: 5’-GCTTGTGTTTAGCATCGCGT-3’ were used to amplify approximately 493 bp of MC4R gene. The results showed that two SNPs, g.1133C>G and g.1108C>T were identified by direct sequencing. The PCR-RFLP method was performed to genotype all individuals studied based on SNP g.1133C>G, and its SNP was significantly associated with shoulder height (SH) at yearling age (P<0.05). Animals with GG genotype had a higher SH (110.35±6.40cm) than those with CC (102.00±8.00 cm) and CG genotype (105.96±6.23 cm). The SNP g.1133 C>G changed amino acid from valine to leucine. In conclusion, the SNP g.1133C>G of the MC4R gene may be used as a marker-assisted selection for SH trait in Madura cattle.

Genetic diversity of limonene synthase genes in Rongan kumquat (Fortunella crassifolia)

2020 ◽  
Vol 47 (5) ◽  
pp. 425
Author(s):  
Mengyu Liu ◽  
Xiaofeng Liu ◽  
Junhua Hu ◽  
Yang Xue ◽  
Xiaochun Zhao
Keyword(s):  
Large Family ◽  
Open Reading Frames ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Geranyl Diphosphate ◽  
Limonene Synthase ◽  
High Amino Acid ◽  
Main Component ◽  
Reading Frames

D-limonene is the main component of citrus essential oils. In the monoterpene biosynthetic pathway, geranyl diphosphate reacts with monoterpenes to form the prenyl-carbocation intermediate to produce d-limonene. In this study, d-limonene synthase (FcLS) genes were first isolated from Rongan kumquat (Fortunella crassifolia Swingle). Sequencing analysis revealed that the open reading frames of 18 FcLS genes contain 12 single nucleotide polymorphisms, which resulted in the variation of FcLS proteins, indicating that the limonene synthase genes are a large family in F. crassifolia. This phenomenon has not been reported in Citrus. The predicted FcLS proteins showed a high amino acid sequence identity with other Citrus limonene synthases and also had the typical structures of limonene synthase protein. FcLS1 was validated to be a functional d-limonene synthase by prokaryotic expression.

131 Genetic variants and haplotype combination in the bovine SH2B2 gene and their associations with molecular breeding for body size traits in Qinchuan cattle (Bos taurus)

2020 ◽  
Vol 32 (2) ◽  
pp. 192
Author(s):  
S. H. A. Raza ◽  
L. Zan
Keyword(s):  
Body Weight ◽  
Bos Taurus ◽  
Janus Kinase ◽  
Nucleotide Polymorphisms ◽  
Qinchuan Cattle ◽  
Single Nucleotide ◽  
Body Measurement Traits ◽  
Src Homology ◽  
Selected Traits ◽  
Polymorphism Level

The Src homology 2B 2 (SH2B2) gene regulates energy balance and body weight at least partially by enhancing Janus kinase-2 (JAK2)-mediated cytokine signalling, including leptin or GH signalling. Leptin is an adipose hormone that controls body weight. The objective of the current study was to evaluate the association between body measurement traits and SH2B2 gene polymorphisms. For this purpose, we selected four single-nucleotide polymorphisms (SNPs) in the SH2B2 gene, including two in intron 5 (A20545G and G20570A), one synonymous SNP (T20693C) in exon 6, and one in intron 8 (C24070A), and genotyped these through DNA sequencing in Qinchuan cattle. The general linear model (GLM) in SPSS 20.0 software (SPSS Inc.) was used for the association analysis between SNPs and selected traits of carcass quality. The SNPs in sample populations were in medium polymorphism level (0.250&lt;pic&lt;0.500). This association study indicated that the G20570A, T20693C, and C24070A were significantly (P&lt;0.05) associated with body length (BL) and chest circumference (CC) in Qinchuan cattle. In addition, the H4H3 and H5H5 diplotype were associated with significantly (P=0.01) greater BL and rump length than was H4H2. Our investigation will not only extend understanding of genetic variations in the bovine SH2B2 gene but also provide useful information for marker-assisted selection in beef cattle breeding programs.

scholarly journals Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome

2014 ◽  
Vol 08 (01) ◽  
pp. 079-084 ◽  
Author(s):  
Nalini Aswath ◽  
Bhuminathan Swamikannu ◽  
Sankar Narayanan Ramakrishnan ◽  
Rajendran Shanmugam ◽  
Jayakar Thomas ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Direct Sequencing ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Heterozygous Condition ◽  
South Indian ◽  
The Subject ◽  
First Time ◽  
Intron 2

ABSTRACT Objective: In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. Materials and Methods: Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing. Results: Sequencing analysis identified Ile453Val mutation within exon 7 of CTSC gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition. Conclusion: The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.

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