scholarly journals Variants in the Myostatin Gene and Physical Performance Phenotype of Elite Athletes

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 757
Author(s):  
Valentina Ginevičienė ◽  
Audronė Jakaitienė ◽  
Erinija Pranckevičienė ◽  
Kazys Milašius ◽  
Algirdas Utkus
Keyword(s):  
Physical Performance ◽  
Elite Athletes ◽  
Performance Status ◽  
Muscle Growth ◽  
Endurance Performance ◽  
Negative Regulator ◽  
Myostatin Gene ◽  
Mstn Gene ◽  
Homozygous Genotype ◽  
The Status

The MSTN gene is a negative regulator of muscle growth that is attracting attention as a candidate gene for physical performance traits. We hypothesised that variants of MSTN might be associated with the status of elite athlete. We therefore sought to study the potential role of MSTN in the physical performance of athletes by analysing the whole coding sequence of the MSTN gene in a cohort of Lithuanian elite athletes (n = 103) and non-athletes (n = 127). Consequently, two genetic variants were identified: the deletion of one of three adenines in the first intron (c.373+90delA, rs11333758) and a non-synonymous variant in the second exon (c.458A>G, p.Lys(K)153Arg(R), rs1805086). Among all samples, the MSTN rs1805086 Lys(K) allele was the most common form in both groups. Homozygous genotype for the less common Arg(R) allele was identified in only one elite canoe rower, and we could find no direct association between rs1805086 and successful results in elite athletes. Surprisingly, the intronic variant (rs11333758) was abundant among all samples. The main finding was that endurance-oriented athletes had 2.1 greater odds of being MSTN deletion genotype than non-athletes (13.6% vs. 0.8%). The present study confirms the association of the polymorphism rs11333758 with endurance performance status in Lithuanian elite athletes.

scholarly journals Effects of Intronic SNPs in the Myostatin Gene on Growth and Carcass Traits in Colored Polish Merino Sheep

Genes ◽  
2019 ◽  
Vol 11 (1) ◽  
pp. 2 ◽  
Author(s):  
Ewa Grochowska ◽  
Bronisław Borys ◽  
Sławomir Mroczkowski
Keyword(s):  
Carcass Traits ◽  
Muscle Growth ◽  
Single Strand Conformation Polymorphism ◽  
Negative Regulator ◽  
Meat Production ◽  
Nucleotide Polymorphisms ◽  
Myostatin Gene ◽  
Merino Sheep ◽  
Mstn Gene ◽  
First Intron

Myostatin acts as a negative regulator of muscle growth; therefore, its role is important with regard to animal growth and meat production. This study was undertaken with the objective to detect polymorphisms in the first intron and c.*1232 position of the MSTN gene and to analyze effects of the detected alleles/genotypes on growth and carcass traits in Colored Polish Merino sheep. In total, 23 traits were analyzed, i.e., seven describing lamb growth and 16 carcass traits. Single nucleotide polymorphisms (SNPs) in the first intron and the c.*1232 position were identified using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods, respectively. The MIXED procedure of the SAS software package was used to analyze allelic and genotypic effects of the MSTN gene on growth and carcass traits. Polymorphisms were only detected in the first intron of the MSTN gene. All investigated sheep were monomorphic G in the c.*1232 position. The MSTN genotype was found to have significant effect on body weight at 2nd day of life (BW2) and loin and fore shank weights. Significant allelic effects were detected with respect to BW2, scrag, leg, fore, and hind shank weights. These results suggest that polymorphisms in the first intron of the MSTN gene are relevant with respect to several carcass traits and BW2 in Colored Polish Merino sheep.

scholarly journals Genetic variation in the first intron and exon of the myostatin gene in several Indonesian cattle populations

2021 ◽  
pp. 1197-1201
Author(s):  
Peni Wahyu Prihandini ◽  
Almira Primasari ◽  
Aryogi Aryogi ◽  
Jauhari Efendy ◽  
Muchamad Luthfi ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Transforming Growth Factor ◽  
Association Studies ◽  
Negative Regulator ◽  
Reaction Products ◽  
Myostatin Gene ◽  
Mstn Gene ◽  
Synonymous Mutations ◽  
Intron 1 ◽  
Exon 1

Background and Aim: Myostatin (MSTN), a member of the transforming growth factor-β family, is a negative regulator of muscle mass. This study aimed to detect the genetic variation of the 1160 bp fragment of exon 1 and part of intron 1 of the MSTN gene in several cattle populations raised in Indonesia. Materials and Methods: Polymerase chain reaction products of the MSTN gene amplified from 92 animals representing 10 cattle populations (Peranakan Ongole [PO], Belgian Blue x PO cross, Rambon, PO x Bali cross, Jabres, Galekan, Sragen, Donggala, Madura, and Bali) were sequenced, compared, and aligned with bovine MSTN of Bos taurus (GenBank Acc. No. AF320998.1) and Bos indicus (GenBank Acc. No. AY794986.1). Results: Four nucleotide substitutions (nt 1045 and 1066 in intron 1; nt 262 and 418 in exon 1) and two indels (nt 807 and 869 in intron 1) were synonymous mutations. Among these substitutions, only the nt 262G>C and nt 418A>G loci were polymorphic in all populations, except Bali cattle. The frequencies of the nt 262C (0.82) and nt 418A (0.65) alleles were highest. For the nt 262G>C locus, the CC genotype had the highest frequency (0.66) followed by GC (0.30) and CC (0.03). For the nt 418A>G locus, the AG genotype had the highest frequency (0.52) followed by AA (0.39) and GG (0.09). Conclusion: The results, showing genetic variations in exon 1 and intron 1 of the MSTN gene, might be helpful for future association studies.

Molecular analysis of fiber type-specific expression of murine myostatin promoter

2004 ◽  
Vol 287 (4) ◽  
pp. C1031-C1040 ◽  
Author(s):  
Mônica Senna Salerno ◽  
Mark Thomas ◽  
Davanea Forbes ◽  
Trevor Watson ◽  
Ravi Kambadur ◽  
...  
Keyword(s):  
Promoter Activity ◽  
Fiber Type ◽  
Muscle Growth ◽  
Quadriceps Muscle ◽  
Negative Regulator ◽  
Specific Expression ◽  
Myostatin Gene ◽  
E Boxes

Myostatin is a negative regulator of muscle growth, and absence of the functional myostatin protein leads to the heavy muscle phenotype in both mouse and cattle. Although the role of myostatin in controlling muscle mass is established, little is known of the mechanisms regulating the expression of the myostatin gene. In this study, we have characterized the murine myostatin promoter in vivo. Various constructs of the murine myostatin promoter were injected into the quadriceps muscle of mice, and the reporter luciferase activity was analyzed. The results indicate that of the seven E-boxes present in the 2.5-kb fragment of the murine myostatin promoter, the E5 E-box plays an important role in the regulation of promoter activity in vivo. Furthermore, the in vitro studies demonstrated that MyoD preferentially binds and upregulates the murine myostatin promoter activity. We also analyzed the activity of the bovine and murine promoters in murine skeletal muscle and showed that, despite displaying comparable levels of activity in murine myoblast cultures, bovine myostatin promoter activity is much weaker than murine myostatin promoter in mice. Finally, we demonstrate that in vivo, the 2.5-kb region of the murine myostatin promoter is sufficient to drive the activity of the reporter gene in a fiber type-specific manner.

scholarly journals Polymorphism of the Myostatin (MSTN) Gene in Landes and Kielecka Geese Breeds

Animals ◽  
2019 ◽  
Vol 10 (1) ◽  
pp. 10
Author(s):  
Grzegorz Smołucha ◽  
Anna Kozubska-Sobocińska ◽  
Anna Koseniuk ◽  
Kacper Żukowski ◽  
Mirosław Lisowski ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Body Weight ◽  
Muscle Growth ◽  
Negative Regulator ◽  
House Mice ◽  
Skeletal Muscle Growth ◽  
Mstn Gene ◽  
Differentiation Factor ◽  
Growth Loss ◽  
Life Analysis

Myostatin, also known as growth differentiation factor 8 (GDF8), belongs to the TGF- β superfamily of proteins. MSTN is a highly conserved protein that acts as a negative regulator of skeletal muscle growth. Loss of myostatin functionality causes the phenotype to appear in the form of ‘double musculature’, among others in cattle, sheep, and house mice. The presented results of the research were carried out on two geese breeds—Landes and Kielecka. The aim of the study was to identify mutations in the MSTN gene and study their impact on body weight in both geese breeds in different periods of life. Analysis of the obtained results showed the existence of polymorphism in exon 3 (c.1231C>T) and suggested a possible association (p < 0.05) between BW and genotype in 12 weeks of life in male Kielecka geese breed. The identified polymorphism may be one of the factors important for improving body weight in the studied Kielecka breed, therefore, it is necessary to conduct further research on a larger population of geese breeds in order to more accurately estimate the effect of the identified SNP c.1231C>T on BW in geese.

scholarly journals Polymorphism and Association in the Exon 3 of MSTN Gene in Batur Sheep

2020 ◽  
Vol 21 (1) ◽  
pp. 10
Author(s):  
Hassan Ishag Hassan Haren ◽  
Prayitno Prayitno ◽  
Dattadewi Purwantini ◽  
Mas Yedi Sumaryadi
Keyword(s):  
Body Weight ◽  
Genomic Dna ◽  
Muscle Growth ◽  
Specific Primer ◽  
Weaning Weight ◽  
Myostatin Gene ◽  
Blood Samples ◽  
Reading Frame ◽  
Mstn Gene ◽  
Whole Blood Samples

The aim of present study was to investigate myostatin gene polymorphism and its association with weaning weight and body weight in Batur sheep, 30 heads of Batur all lambs were fed by concentrated feed. Body weight measured monthly after weaning to the six months of age. DNA Extraction used 200 ul of whole blood samples. To amplify exon 3 region of MSTN gene a specific primer designed using the Primer3 software. The 25 μl volume contained 25 ng of genomic DNA, 12.5 μl 2x Reaction mix of each primer. The cycling protocol was 5 minutes at 95°C as initial denaturation, 35 cycles of denaturing at 94°C for 45 seconds, annealing at 73.9 for 45 seconds, extending at 72°C for 40 s, with final extension at 72°C for 10 minutes. Eleven polymorphic sites were observed in the in 3rd exon region transversions at c.*121 G instead of A, del-T at c.*129, one individual at c.*139 and one individual at c.*158 positions however, one individual sequence disrupted reading frame in whole MSTN sequenced, also weaning weight and 6-month weight of Batur lambs were 21.13±5.70 and 31.64±7.06 to the homozygous whilst 19.99±4.33 and 30.50±5.44 for heterozygote respectively but there is no significe differences seen above all the studied parameters. Homozygous AA lambs had fairly low weaning weight and body weight compared to the heterozygous AB lambs but might have a higher carcass weight, further investigation is needed into the interaction of MSTN with other genes involved in muscle growth.

20-Hydroxyecdysone activates the protective arm of the RAAS via Mas receptor

2021 ◽  
Author(s):  
René Lafont ◽  
Maria Serova ◽  
Blaise Didry-Barca ◽  
Sophie Raynal ◽  
Louis Guibout ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mechanism Of Action ◽  
Muscle Growth ◽  
Negative Regulator ◽  
Pharmacological Effects ◽  
Reporter System ◽  
Myostatin Gene ◽  
Mas Receptor ◽  
Myoblast Cell Line ◽  
Myoblast Cell

20-Hydroxyecdysone (20E) is a steroid hormone that plays a key role in insect development through nuclear ecdysteroid receptors (EcR/RXR complex) and at least one membrane GPCR receptor (DopEcR). It also displays numerous pharmacological effects in mammals, where its mechanism of action is still debated, involving either an unidentified GPCR or the estrogen ERβ receptor. The goal of this study was to better understand 20E mechanism of action in mammals. A mouse myoblast cell line (C2C12) and the gene expression of myostatin (a negative regulator of muscle growth) was used as a reporter system of anabolic activity. Experiments using protein-bound 20E established the involvement of a membrane receptor. 20E-like effects were also observed with angiotensin-(1-7), the endogenous ligand of Mas. Additionally, the effect on myostatin gene expression was abolished by Mas receptor knock-down using small interfering RNA (siRNA) or pharmacological inhibitors. 17β-Estradiol (E2) also inhibited myostatin gene expression, but protein-bound E2 was inactive, and E2 activity was not abolished by angiotensin-(1-7) antagonists. A mechanism involving cooperation between the Mas receptor and a membrane-bound palmitoylated estrogen receptor is proposed. The possibility to activate the Mas receptor with a safe steroid molecule is consistent with the pleiotropic pharmacological effects of ecdysteroids in mammals and, indeed, the proposed mechanism may explain the close similarity between angiotensin-(1-7)’s and 20E’s effects. Our findings open up many possible therapeutic developments involving stimulation of the protective arm of the renin-angiotensin-aldosterone system (RAAS) with 20E.

Advances of MSTN Genetic Markers in Domesticated Animals

2020 ◽  
Author(s):  
Cheng-Li Liu ◽  
Guang-Xin E ◽  
Wei-Wei Ni ◽  
Xiao Wang ◽  
Shu-Zhu Cheng ◽  
...  
Keyword(s):  
Growth And Development ◽  
Structural Characteristics ◽  
Muscle Growth ◽  
Animal Husbandry ◽  
Negative Regulator ◽  
Economic Traits ◽  
Animal Products ◽  
Mstn Gene ◽  
Animal Muscle

The myostatin (MSTN) gene is a negative regulator of animal muscle growth and development. This gene not only inhibits muscle cell growth and reduces fat accumulation but also exerts a significant effect on back fat thickness, birth weight and carcass traits. MSTN gene mutation, an important factor that influences economic traits, directly affects the growth and development of animals and consequently the quality of animal products. This paper reviews the structural and functional characteristics of the MSTN gene. The genetic variation of the MSTN gene is then compared among four domestic animals (cattle, sheep, goat and pig) and its correlation with important economic traits is analysed. The mechanism and structural characteristics of MSTN gene mutants are further discussed. This paper provides explication on the application of MSTN gene research in breeding and its importance to the advancement of animal husbandry.

scholarly journals Myostatin Gene as a Genetic Marker for Growth and Carcass Traits in Beef Cattle

2021 ◽  
Vol 31 (1) ◽  
pp. 37
Author(s):  
Peni Wahyu Prihandini ◽  
D N H Hariyono ◽  
Y A Tribudi
Keyword(s):  
Beef Cattle ◽  
Muscle Mass ◽  
Gene Polymorphisms ◽  
Carcass Traits ◽  
Phenotypic Expression ◽  
Negative Regulator ◽  
Myostatin Gene ◽  
Mstn Gene ◽  
Growth Performances ◽  
Superior Genotype

<p>Growth and carcass traits are of economic importances in livestock breeding, because they affect the profitability of animal production. The phenotypic expression of these traits is controlled by multiple genes (polygenes), such as myostatin (MSTN) gene. This paper aims to discuss the expression, polymorphism and potential application of MSTN gene as a marker-assisted selection (MAS) for growth and carcass traits in beef cattle based on data from published studies. MSTN gene or known as growth and differentiation factor 8 (GDF8) is a member of the transforming growth factor-β (TGF-β) superfamily, which acts as a negative regulator of skeletal muscle mass deposition. Several published studies showed that mutations in the MSTN gene can inhibit the activation of myostatin, which leads to an increased muscle mass (hypertrophy). Several <em>MSTN</em> gene polymorphisms were reported to be associated with growth and carcass traits in local cattle in several countries, including Indonesia, namely Bali cattle. Based on several assumptions: 1) there is MTSN gene polymorphisms in a population, 2) there is a significant association between MSTN gene polymorphisms and growth and carcass traits, as reported in several beef cattle populations and 3) those cattle with superior genotype have better growth performances, we expect that there will be improvement in growth performances in the future if those cattle are selected. Understanding MSTN gene polymorphisms would be useful to make strategies for the genetic improvement for growth and carcass traits of local cattle.</p>

scholarly journals Detection of F94L mutation of the MSTN gene in four Indonesian local cattle breeds

2020 ◽  
Vol 45 (1) ◽  
pp. 7-14
Author(s):  
S. Anwar ◽  
S. D. Volkandari ◽  
A. S. Wulandari ◽  
W. P. B. Putra ◽  
E. Sophian ◽  
...  
Keyword(s):  
Meat Quality ◽  
Wild Type ◽  
Myostatin Gene ◽  
Mstn Gene ◽  
Cattle Breeds ◽  
Holstein Friesian ◽  
Pcr Rflp ◽  
Genotype Identification ◽  
The Status ◽  
Type C

The F94L mutation of the MSTN gene (MSTN-F94L) is considered not to cause disrupted the function of the myostatin gene drastically. Interestingly, this mutation has a very significant effect on muscle mass, carcass, or meat yield and meat quality without any associated severe negative problems. This study aimed to confirm the MSTN-F94L mutation in four local cattle breeds in Indonesia. A total of 518 individuals (140 of Bali, 107 of Sumbawa, 168 of Pasundan, and 103 of Holstein-Friesian (H-F) cattle) were used in this study. Genotype identification was performed by PCR-RFLP method. In the present study showed that the wild-type C allele was fixed (1.000) in Bali, Sumbawa, and HF cattle. However, the wild-type C allele and the mutant A allele were found in Pasundan cattle, even though the frequency of the mutant A allele was very low (0.012). Therefore, in conclusion, the mutation of the MSTN-F94L was detected in Pasundan cattle but no in all three cattle breeds. However, the presence of the mutant A allele in Pasundan cattle allegedly derived from Limousin bulls. The further investigation in other local and exotic breeds and its crossing will answer the status of the MSTN-F94L mutation in local cattle breeds in Indonesia.

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.

Sign in / Sign up

Export Citation Format

Share Document