scholarly journals The Role of Polymorphisms in Collagen-Encoding Genes in Intervertebral Disc Degeneration

Biomolecules ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1279
Author(s):  
Vera V. Trefilova ◽  
Natalia A. Shnayder ◽  
Marina M. Petrova ◽  
Daria S. Kaskaeva ◽  
Olga V. Tutynina ◽  
...  
Keyword(s):  
Intervertebral Disc Degeneration ◽  
Genetic Basis ◽  
Intervertebral Discs ◽  
Genetic Studies ◽  
Collagen Formation ◽  
Genome Wide ◽  
Different Types ◽  
Available Information ◽  
Encoding Genes

(1) Background: The purpose of this review is to analyze domestic and foreign studies on the role of collagen-encoding genes polymorphism in the development of intervertebral discs (IVDs) degeneration in humans. (2) Methods: We have carried out a search for full-text articles published in e-Library, PubMed, Oxford Press, Clinical Case, Springer, Elsevier and Google Scholar databases. The search was carried out using keywords and their combinations. The search depth was 5 years (2016–2021). In addition, this review includes articles of historical interest. Despite an extensive search, it is possible that we might have missed some studies published in recent years. (3) Results: According to the data of genome-wide and associative genetic studies, the following candidate genes that play a role in the biology of IVDs and the genetic basis of the processes of collagen degeneration of the annulus fibrosus and nucleus pulposus of IVDs in humans are of the greatest interest to researchers: COL1A1, COL2A1, COL9A2, COL9A3, COL11A1 and COL11A2. In addition, the role of genes COL1A2, COL9A1 and others is being actively studied. (4) Conclusions: In our review, we summarized and systematized the available information on the role of genetic factors in IVD collagen fibers turnover and also focused on the functions of different types of collagen present in the IVD. Understanding the etiology of impaired collagen formation can allow doctors to prescribe pathogenetically-based treatment, achieving the most effective results.

Genetic and Epigenetic Aspects of Skin Collagen Fiber Turnover and Functioning

Cosmetics ◽  
2021 ◽  
Vol 8 (4) ◽  
pp. 92
Author(s):  
Nikolay N. Potekaev ◽  
Olga B. Borzykh ◽  
German V. Medvedev ◽  
Marina M. Petrova ◽  
Oksana A. Gavrilyuk ◽  
...  
Keyword(s):  
Collagen Fiber ◽  
Mechanical Damage ◽  
Facial Aging ◽  
Collagen Formation ◽  
Multi Stage ◽  
Skin Collagen ◽  
Different Types ◽  
Stage Process ◽  
Available Information

One of the most important functions of the skin, i.e., protection from mechanical damage, is ensured by collagen fibers and their interaction with other elements in the extracellular matrix. Collagen fiber turnover is a complex multi-stage process. At each stage, a disruption may occur, leading to a decrease in the mechanical properties of the connective tissue. Clinically, collagen formation disorders manifest themselves as increased flabbiness and looseness of the skin and as early signs of facial aging. In addition to the clinical picture, it is important for cosmetologists and dermatologists to understand the etiology and pathogenesis of collagenopathies. In our review, we summarized and systematized the available information concerning the role of genetic and epigenetic factors in skin collagen fiber turnover. Furthermore, we focused on the functions of different types of collagens present in the skin. Understanding the etiology of impaired collagen formation can allow doctors to prescribe pathogenetically based treatments, achieve the most effective results, and minimize adverse reactions.

scholarly journals Cysteine-Rich Hydrophobin Gene Family: Genome Wide Analysis, Phylogeny and Transcript Profiling in Cordyceps militaris

2021 ◽  
Vol 22 (2) ◽  
pp. 643
Author(s):  
Xiao Li ◽  
Fen Wang ◽  
Yanyan Xu ◽  
Guijun Liu ◽  
Caihong Dong
Keyword(s):  
Life Cycle ◽  
Pathogenic Fungi ◽  
Class Ii ◽  
Cordyceps Militaris ◽  
Transcript Profiling ◽  
Saprotrophic Fungi ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
Encoding Genes

Hydrophobins are a family of small secreted proteins found exclusively in fungi, and they play various roles in the life cycle. In the present study, genome wide analysis and transcript profiling of the hydrophobin family in Cordyceps militaris, a well-known edible and medicinal mushroom, were studied. The distribution of hydrophobins in ascomycetes with different lifestyles showed that pathogenic fungi had significantly more hydrophobins than saprotrophic fungi, and class II members accounted for the majority. Phylogenetic analysis of hydrophobin proteins from the species of Cordyceps s.l. indicated that there was more variability among the class II members than class I. Only a few hydrophobin-encoding genes evolved by duplication in Cordyceps s.l., which was inconsistent with the important role of gene duplication in basidiomycetes. Different transcript patterns of four hydrophobin-encoding genes during the life cycle indicated the possible different functions for each. The transcripts of Cmhyd2, 3 and 4 can respond to light and were related with the photoreceptors. CmQHYD, with four hydrophobin II domains, was first found in C. militaris, and multi-domain hydrophobins were only distributed in the species of Cordycipitaceae and Clavicipitaceae. These results could be helpful for further function research of hydrophobins and could provide valuable information for the evolution of hydrophobins.

scholarly journals Genome-Wide Identification and Characterization of MLO Gene Family in Octoploid Strawberry (Fragaria ×ananassa)

2020 ◽  
Author(s):  
Ronald R. Tapia ◽  
Christopher R. Barbey ◽  
Saket Chandra ◽  
Kevin M. Folta ◽  
Vance M. Whitaker ◽  
...  
Keyword(s):  
Gene Family ◽  
Genomic Structure ◽  
Resistance Locus ◽  
Fragaria Ananassa ◽  
Loss Of Function ◽  
Genetic Studies ◽  
Genome Wide ◽  
Segregating Population

AbstractPowdery mildew (PM) caused by Podosphaera aphanis is a major fungal disease in cultivated strawberry. Mildew Resistance Locus O (MLO) is a gene family described for having conserved seven-transmembrane domains. Induced loss-of-function in specific MLO genes can confer durable and broad resistance against PM pathogens. However, the underlying biological role of MLO genes in strawberry is still unknown. In the present study, the genomic structure of MLO genes were characterized in both diploid (Fragaria vesca) and octoploid strawberry (Fragaria ×ananassa), and the potential sources of MLO-mediated susceptibility were identified. Twenty MLO-like sequences were identified in F. vesca, with sixty-eight in F. ×ananassa. Phylogenetic analysis divides strawberry MLO genes into eight different clades, in which three FveMLO and ten FaMLO genes were grouped together with the functionally known MLO susceptibility. Out of ten FaMLO genes, FaMLO17-2 and FaMLO17-3 showed the highest similarity to the known susceptibility MLO proteins. Gene expression analysis of FaMLO genes was conducted using a multi-parental segregating population. Three expression quantitative trait loci (eQTL) were substantially associated with MLO transcript levels in mature fruits, suggesting discrete genetic control of susceptibility. These results are a critical first step in understanding allele function of MLO genes, and are necessary for further genetic studies of PM resistance in cultivated strawberry.

scholarly journals Genome-wide methylation data improves dissection of the effect of smoking on body mass index

PLoS Genetics ◽  
2021 ◽  
Vol 17 (9) ◽  
pp. e1009750
Author(s):  
Carmen Amador ◽  
Yanni Zeng ◽  
Michael Barber ◽  
Rosie M. Walker ◽  
Archie Campbell ◽  
...  
Keyword(s):  
Complex Traits ◽  
Genetic Basis ◽  
Environmental Changes ◽  
Total Contribution ◽  
Genetic Studies ◽  
Socioeconomic Changes ◽  
Genome Wide ◽  
A Genome ◽  
Causes Of Disease ◽  
Wide Perspective

Variation in obesity-related traits has a genetic basis with heritabilities between 40 and 70%. While the global obesity pandemic is usually associated with environmental changes related to lifestyle and socioeconomic changes, most genetic studies do not include all relevant environmental covariates, so the genetic contribution to variation in obesity-related traits cannot be accurately assessed. Some studies have described interactions between a few individual genes linked to obesity and environmental variables but there is no agreement on their total contribution to differences between individuals. Here we compared self-reported smoking data and a methylation-based proxy to explore the effect of smoking and genome-by-smoking interactions on obesity related traits from a genome-wide perspective to estimate the amount of variance they explain. Our results indicate that exploiting omic measures can improve models for complex traits such as obesity and can be used as a substitute for, or jointly with, environmental records to better understand causes of disease.

Genetics of the metabolic syndrome

2007 ◽  
Vol 32 (1) ◽  
pp. 89-114 ◽  
Author(s):  
Margarita Terán-García ◽  
Claude Bouchard
Keyword(s):  
Metabolic Syndrome ◽  
Genetic Basis ◽  
Familial Aggregation ◽  
Genetic Studies ◽  
True Nature ◽  
The Metabolic Syndrome ◽  
Genome Wide ◽  
The Individual ◽  
Ectopic Fat Deposition ◽  
Key Questions

The concept of a metabolic syndrome (MetS), a cluster of pre-clinical metabolic alterations commonly associated with obesity, is the object of much debate. Genetic studies have the potential to contribute to some of the key questions, including the true nature of the cluster of pre-clinical features and whether it is associated with human genetic variation. This review summarizes the evidence for the presence of familial aggregation for the individual components of MetS and their heritability levels. It also provides an overview of the studies that have dealt with candidate genes for MetS. Potential leads from genome-wide linkage scans are also discussed. The assumption is made that obesity, ectopic fat deposition and abnormal adipose tissue metabolism are responsible for alterations in lipid metabolism, which in turn generates the commonly observed pre-clinical shifts in glucose tolerance, lipids and lipoprotein profile, blood pressure, inflammatory markers, endothelial function, and a prothrombotic state. Progress in the understanding of the genetic basis of MetS should occur as soon as a consensus is reached on the true nature of MetS, its components and diagnostic criteria.

scholarly journals A Comprehensive Review on the Role of Genetic Factors in Neuromyelitis Optica Spectrum Disorder

2021 ◽  
Vol 12 ◽  
Author(s):  
Soudeh Ghafouri-Fard ◽  
Tahereh Azimi ◽  
Mohammad Taheri
Keyword(s):  
Neuromyelitis Optica ◽  
Genetic Factors ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Susceptibility Loci ◽  
Comprehensive Review ◽  
Genome Wide ◽  
Spectrum Disorders ◽  
Hla Haplotypes ◽  
Available Information

Neuromyelitis optica spectrum disorders (NMOSD) comprise a variety of disorders being described by optic neuritis and myelitis. This disorder is mostly observed in sporadic form, yet 3% of cases are familial NMO. Different series of familial NMO cases have been reported up to now, with some of them being associated with certain HLA haplotypes. Assessment of HLA allele and haplotypes has also revealed association between some alleles within HLA-DRB1 or other loci and sporadic NMO. More recently, genome-wide SNP arrays have shown some susceptibility loci for NMO. In the current manuscript, we review available information about the role of genetic factors in NMO.

scholarly journals Incorporation of DNA methylation into eQTL mapping in African Americans

2020 ◽  
Author(s):  
Anmol Singh ◽  
Yizhen Zhong ◽  
Layan Nahlawi ◽  
C. Sehwan Park ◽  
Tanima De ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dna Methylation ◽  
African Americans ◽  
Genetic Basis ◽  
Critical Role ◽  
Eqtl Analysis ◽  
Biliary Cirrhosis ◽  
Eqtl Mapping ◽  
Genome Wide

Epigenetics is a reversible molecular mechanism that plays a critical role in many developmental, adaptive, and disease processes. DNA methylation has been shown to regulate gene expression and the advent of high throughput technologies has made genome-wide DNA methylation analysis possible. We investigated the effect of DNA methylation in eQTL mapping (methylation-adjusted eQTLs), by incorporating DNA methylation as a SNP-based covariate in eQTL mapping in African American derived hepatocytes. We found that the addition of DNA methylation uncovered new eQTLs and eGenes. Previously discovered eQTLs were significantly altered by the addition of DNA methylation data suggesting that methylation may modulate the association of SNPs to gene expression. We found that methylation-adjusted eQTLs which were less significant compared to PC-adjusted eQTLs were enriched in lipoprotein measurements (FDR = 0.0040), immune system disorders (FDR = 0.0042), and liver enzyme measurements (FDR = 0.047), suggesting a role of DNA methylation in regulating the genetic basis of these phenotypes. Our methylation-adjusted eQTL analysis also uncovered novel SNP-gene pairs. For example, our study found the SNP, rs11546996, was associated to PNKP. In a previous GWAS, this SNP was associated with primary biliary cirrhosis although the causal gene was thought to be SPIB. Our methylation-adjusted method potentially adds new understanding to the genetic basis of complex diseases that disproportionally affect African Americans.

scholarly journals Genome-Wide Identification of the Thaumatin-like Protein Family Genes in Gossypium barbadense and Analysis of Their Responses to Verticillium dahliae Infection

Plants ◽  
2021 ◽  
Vol 10 (12) ◽  
pp. 2647
Author(s):  
Yilin Zhang ◽  
Wei Chen ◽  
Xiaohui Sang ◽  
Ting Wang ◽  
Haiyan Gong ◽  
...  
Keyword(s):  
Gene Family ◽  
Verticillium Dahliae ◽  
Gene Family Evolution ◽  
Disease Response ◽  
Genome Wide ◽  
Pathogen Challenge ◽  
Pathogenesis Related ◽  
Related Proteins ◽  
Encoding Genes

(1) Background: Plants respond to pathogen challenge by activating a defense system involving pathogenesis-related (PR) proteins. The PR-5 family includes thaumatin, thaumatin-like proteins (TLPs), and other related proteins. TLPs play an important role in response to biotic and abiotic stresses. Many TLP-encoding genes have been identified and functionally characterized in the model plant species. (2) Results: We identified a total of 90 TLP genes in the G. barbadense genome. They were phylogenetically classified into 10 subfamilies and distributed across 19 chromosomes and nine scaffolds. The genes were characterized by examining their exon–intron structures, promoter cis-elements, conserved domains, synteny and collinearity, gene family evolution, and gene duplications. Several TLP genes were predicted to be targets of miRNAs. Investigation of expression changes of 21 GbTLPs in a G. barbadense cultivar (Hai7124) resistance to Verticillium dahliae revealed 13 GbTLPs being upregulated in response to V. dahliae infection, suggesting a potential role of these GbTLP genes in disease response. (3) Conclusions: The results of this study allow insight into the GbTLP gene family, identify GbTLP genes responsive to V. dahliae infection, and provide candidate genes for future studies of their roles in disease resistance.

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