Abstract:
:PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms have been associated with endurance athlete status, endurance performance phenotypes, and certain health-related markers of different pathologies such as metabolic syndrome, diabetes, and dyslipidemia. We hypothesized that they could be considered interesting candidates for explaining inter-individual variations in muscle fiber composition in humans. We aimed to examine possible associations of these polymorphisms with myosin heavy-chain (MHC) isoforms as markers of muscle fiber compositions in vastus lateralis muscle in a population of 214 healthy Japanese subjects, aged between 19 and 79 years. No significant associations were found in men for any measured variables. In contrast, in women, the PPARGC1A rs8192678 A/A genotype was significantly associated with a higher proportion of MHC-I (p = 0.042) and with a lower proportion of MHC-IIx (p = 0.033), and the NRF1 rs6949152 AA genotype was significantly associated with a higher proportion of MHC-I (p = 0.008) and with a lower proportion of MHC IIx (p = 0.035). In women, the genotype scores of the modes presenting the most significant results for PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms were significantly associated with MHC-I (p = 0.0007) and MHC IIx (p = 0.0016). That is, women with combined PPARGC1A A/A and NRF1 A/A genotypes presented the highest proportion of MHC-I and the lowest proportion of MHC-IIx, in contrast to women with combined PPARGC1A GG+GA and NRF1 AG+GG genotypes, who presented the lowest proportion of MHC-I and the highest proportion of MHC-IIx. Our results suggest possible associations between these polymorphisms (both individually and in combination) and the inter-individual variability observed in muscle fiber composition in women, but not in men.
journal_name
Genes (Basel)journal_title
Genesauthors
Yvert T,Miyamoto-Mikami E,Tobina T,Shiose K,Kakigi R,Tsuzuki T,Takaragawa M,Ichinoseki-Sekine N,Pérez M,Kobayashi H,Tanaka H,Naito H,Fuku Ndoi
10.3390/genes11091012subject
Has Abstractpub_date
2020-08-27 00:00:00issue
9issn
2073-4425pii
genes11091012journal_volume
11pub_type
杂志文章相关文献
Genes文献大全abstract::RabGTPase activating proteins (RabGAP) are responsible for directing the deactivation of vesicular trafficking master regulators associated to plant development, the RabGTPase proteins. Recently, RabGAPs were identified in Arabidopsis and rice, but studies were not yet reported in tomato. Herein, we identified 24 RabG...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10090638
更新日期:2019-08-23 00:00:00
abstract::Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis. Previous functional imaging studies of fragile X syndrome have typically fo...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10121052
更新日期:2019-12-17 00:00:00
abstract::Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modifying or processing...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10020135
更新日期:2019-02-12 00:00:00
abstract::Despite worldwide prevention programs, the incidence for cutaneous melanoma is continuously increasing. Mucosal melanoma (MM) represents a rare but highly aggressive phenotype of common melanoma with predilection in the sinonasal system. Far away from ultraviolet sun exposure, the molecular mechanisms underlying tumor...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes8120384
更新日期:2017-12-13 00:00:00
abstract::Lower levels of physical activity (PA) have been associated with increased risk of cardiovascular disease. Worldwide, there is a shift towards a lifestyle with less PA, posing a serious threat to public health. One of the suggested mechanisms behind the association between PA and disease development is through systemi...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10110908
更新日期:2019-11-07 00:00:00
abstract::Quorum sensing (QS) is a cell-to-cell communication system that uses autoinducers as signaling molecules to enable inter-species and intra-species interactions in response to external stimuli according to the population density. QS allows bacteria such as Acinetobacter baumannii to react rapidly in response to environ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10040282
更新日期:2019-04-08 00:00:00
abstract::Protein sequence, structure, and function are inherently linked through evolution and population genetics. Our knowledge of protein structure comes from solved structures in the Protein Data Bank (PDB), our knowledge of sequence through sequences found in the NCBI sequence databases (http://www.ncbi.nlm.nih.gov/), and...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes2040748
更新日期:2011-10-28 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, that leads patients to premature death. The loss of dystrophin determines membrane instability, causing cell damage and inflammatory response. Macrophage migration inhibitory factor (MIF) is a cytokine t...
journal_title:Genes
pub_type: 杂志文章,meta分析
doi:10.3390/genes10110939
更新日期:2019-11-18 00:00:00
abstract::The conserved Notch pathway is reported to be involved in progesterone synthesis and secretion; however, the exact effects remain controversial. To determine the role and potential mechanisms of the Notch signaling pathway in progesterone biosynthesis in porcine granulosa cells (pGCs), we first used a pharmacological ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11020120
更新日期:2020-01-22 00:00:00
abstract::Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121518
更新日期:2020-12-18 00:00:00
abstract::The obligately anaerobic haloalkaliphilic bacterium Alkalitalea saponilacus can use xylan as the sole carbon source and produce propionate as the main fermentation product. Using mixed carbon sources of 0.4% (w/v) sucrose and 0.1% (w/v) birch xylan, xylanase production from A. saponilacus was 3.2-fold greater than tha...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10010001
更新日期:2018-12-20 00:00:00
abstract::Genetic variations introduced via introgression from Western to Chinese pigs have contributed to the performance of Chinese breeds in traits such as growth rate and feed conversion efficiency. However, little is known about the underlying genomic changes that occurred during introgression and the types of traits affec...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11030275
更新日期:2020-03-04 00:00:00
abstract::Transfer RNAs (tRNAs) are essential adaptors that mediate translation of the genetic code. These molecules undergo a variety of post-transcriptional modifications, which expand their chemical reactivity while influencing their structure, stability, and functionality. Chemical modifications to tRNA ensure translational...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11080907
更新日期:2020-08-07 00:00:00
abstract::Site-directed RNA editing is an approach to reprogram genetic information at the RNA level. We recently introduced a novel guideRNA that allows for the recruitment of human ADAR2 to manipulate genetic information. Here, we show that the current guideRNA design is already able to recruit another human deaminase, ADAR1,...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes8010034
更新日期:2017-01-14 00:00:00
abstract::The TDP1 (tyrosyl-DNA phosphodiesterase 1) enzyme removes the non-specific covalent intermediates between topoisomerase I and DNA, thus playing a crucial role in preventing DNA damage. While mammals possess only one TDP1 gene, in plants two genes (TDP1α and TDP1β) are present constituting a small gene subfamily. These...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121465
更新日期:2020-12-07 00:00:00
abstract::The accurate repair of DNA is critical for genome stability and cancer prevention. DNA double-strand breaks are one of the most toxic lesions; however, they can be repaired using homologous recombination. Homologous recombination is a high-fidelity DNA repair pathway that uses a homologous template for repair. One cen...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9120629
更新日期:2018-12-13 00:00:00
abstract::The contribution of chromatin dynamics to the regulation of human disease-associated loci such as the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been the focus of intensive experimentation for many years. Recent technological advances in the analysis of transcriptional mechanisms across the en...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes6030543
更新日期:2015-07-13 00:00:00
abstract::Magnaportheoryzae is a devastating plant pathogen, which has a detrimental impact on rice production worldwide. Despite its agronomical importance, some newly-emerging pathotypes often overcome race-specific disease resistance rapidly. It is thus desirable to develop a novel strategy for the long-lasting resistance of...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes8100241
更新日期:2017-09-26 00:00:00
abstract::Novel coat colour phenotypes often emerge during domestication, and there is strong evidence of genetic selection for the two main genes that control base coat colour in horses-ASIP and MC1R. These genes direct the type of pigment produced, red pheomelanin (MC1R) or black eumelanin (ASIP), as well as the relative conc...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060606
更新日期:2020-05-30 00:00:00
abstract::In angiosperms, meiotic failure coupled with the formation of genetically unreduced gametophytes in ovules (apomeiosis) constitute major components of gametophytic apomixis. These aberrant developmental events are generally thought to be caused by mutation. However, efforts to locate the responsible mutations have fai...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121449
更新日期:2020-12-02 00:00:00
abstract::The revolution in next-generation DNA sequencing technologies is leading to explosive data growth in genomics, posing a significant challenge to the computing infrastructure and software algorithms for genomics analysis. Various big data technologies have been explored to scale up/out current bioinformatics solutions ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10121017
更新日期:2019-12-06 00:00:00
abstract::Acute myeloid leukemia (AML) can develop as a secondary malignancy following radiotherapy, but also following low-dose environmental or occupational radiation exposure. Therapy-related AML frequently carries deletions of chromosome 5q and/or 7, but for low-dose exposure associated AML this has not been described. For ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes2020384
更新日期:2011-05-31 00:00:00
abstract::Acquisition of mobile elements by horizontal gene transfer can play a major role in bacterial adaptation and genome evolution by providing traits that contribute to bacterial fitness. However, gaining foreign DNA can also impose significant fitness costs to the host bacteria and can even produce detrimental effects. T...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11020142
更新日期:2020-01-29 00:00:00
abstract::It is well established that embryonic chromosomal abnormalities (both in the number of chromosomes and the structure) account for 50% of early pregnancy losses. However, little is known regarding the potential differences in the incidence and distribution of chromosomal abnormalities between patients with sporadic abo...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes12020141
更新日期:2021-01-22 00:00:00
abstract::Bacterial fruit blotch (BFB) causes losses in melon marketable yield. However, until now, there has been no information about the genetic loci responsible for resistance to the disease or their pattern of inheritance. We determined the inheritance pattern of BFB resistance from a segregating population of 491 F2 indiv...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11020220
更新日期:2020-02-19 00:00:00
abstract::DNA double-strand breaks (DSBs) jeopardize genome integrity and can-when repaired unfaithfully-give rise to structural rearrangements associated with cancer. Exogenous agents such as ionizing radiation or chemotherapy can invoke DSBs, but a vast amount of breakage arises during vital endogenous DNA transactions, such ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9120632
更新日期:2018-12-14 00:00:00
abstract::Olfaction, which is mediated by olfactory receptor (OR) genes, is essential in the daily life of fish, especially in foraging. However, Chinese perch (Siniperca chuatsi) is believed to prey with reliance on vision and lateral sensation, but not on olfaction. Therefore, understanding the evolutionary dynamics of the Ch...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10020178
更新日期:2019-02-25 00:00:00
abstract::This review discusses a set of experimental results that support the existence of extended strand displacement events during budding yeast lagging strand DNA synthesis. Starting from introducing the mechanisms and factors involved in leading and lagging strand DNA synthesis and some aspects of the architecture of the ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes10020167
更新日期:2019-02-21 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5-10% of affected patients, generally encompass NF1 neighboring genes, and are correlated with a more severe NF1 phenotype. Evident genoty...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10110839
更新日期:2019-10-24 00:00:00
abstract::Gene duplication is an important evolutionary mechanism allowing to provide new genetic material and thus opportunities to acquire new gene functions for an organism, with major implications such as speciation events. Various processes are known to allow a gene to be duplicated and different models explain how duplica...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11091046
更新日期:2020-09-04 00:00:00