scholarly journals Combining current knowledge of Cypripedium calceolus with a new analysis of genetic variation in Italian populations to provide guidelines for conservation actions

2021 ◽  
Vol 3 (10) ◽  
Author(s):  
Roberta Gargiulo ◽  
Martino Adamo ◽  
Phillip J. Cribb ◽  
Fabrizio Bartolucci ◽  
Viswambharan Sarasan ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Current Knowledge ◽  
Conservation Actions ◽  
Cypripedium Calceolus

scholarly journals How (Epi)Genetic Regulation of the LIM-Domain Protein FHL2 Impacts Multifactorial Disease

Cells ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 2611
Author(s):  
Jayron J. Habibe ◽  
Maria P. Clemente-Olivo ◽  
Carlie J. de Vries
Keyword(s):  
Gene Expression ◽  
Genetic Variation ◽  
Current Knowledge ◽  
Genetic Regulation ◽  
Regulation Of Gene Expression ◽  
Lim Domain ◽  
Multifactorial Diseases ◽  
Lim Domains ◽  
Age Related

Susceptibility to complex pathological conditions such as obesity, type 2 diabetes and cardiovascular disease is highly variable among individuals and arises from specific changes in gene expression in combination with external factors. The regulation of gene expression is determined by genetic variation (SNPs) and epigenetic marks that are influenced by environmental factors. Aging is a major risk factor for many multifactorial diseases and is increasingly associated with changes in DNA methylation, leading to differences in gene expression. Four and a half LIM domains 2 (FHL2) is a key regulator of intracellular signal transduction pathways and the FHL2 gene is consistently found as one of the top hyper-methylated genes upon aging. Remarkably, FHL2 expression increases with methylation. This was demonstrated in relevant metabolic tissues: white adipose tissue, pancreatic β-cells, and skeletal muscle. In this review, we provide an overview of the current knowledge on regulation of FHL2 by genetic variation and epigenetic DNA modification, and the potential consequences for age-related complex multifactorial diseases.

scholarly journals Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage

2018 ◽  
Vol 19 (12) ◽  
pp. 3879 ◽  
Author(s):  
Yi-Chun Chen ◽  
Kuo-Hsuan Chang ◽  
Chiung-Mei Chen
Keyword(s):  
Genetic Variation ◽  
Lipid Metabolism ◽  
Intracerebral Hemorrhage ◽  
Genetic Variants ◽  
Vessel Wall ◽  
Current Knowledge ◽  
Gene Variants ◽  
Spontaneous Intracerebral Hemorrhage ◽  
The Difference ◽  
Variance Explained

Differences in the incidence of spontaneous intracerebral hemorrhage (ICH) between ethnicities exist, with an estimated 42% of the variance explained by ethnicity itself. Caucasians have a higher proportion of lobar ICH (LICH, 15.4% of all ICH) than do Asians (3.4%). Alterations in the causal factor exposure between countries justify part of the ethnic variance in ICH incidence. One third of ICH risk can be explained by genetic variation; therefore, genetic differences between populations can partly explain the difference in ICH incidence. In this paper, we review the current knowledge of genetic variants associated with ICH in multiple ethnicities. Candidate gene variants reportedly associated with ICH were involved in the potential pathways of hypertension, vessel wall integrity, lipid metabolism, endothelial dysfunction, inflammation, platelet function, and coagulopathy. Furthermore, variations in APOE (in multiple ethnicities), PMF1/SLC25A44 (in European), ACE (in Asian), MTHFR (in multiple ethnicities), TRHDE (in European), and COL4A2 (in European) were the most convincingly associated with ICH. The majority of the associated genes provide small contributions to ICH risk, with few of them being replicated in multiple ethnicities.

scholarly journals Clustering Pattern and Functional Effect of SNPs in Human miRNA Seed Regions

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Sha He ◽  
Haiyan Ou ◽  
Cunyou Zhao ◽  
Jian Zhang
Keyword(s):  
Genetic Variation ◽  
Target Genes ◽  
Current Knowledge ◽  
Seed Region ◽  
Functional Effect ◽  
Mirna Clusters ◽  
Vital Effects ◽  
Computational Analyses ◽  
Clustering Pattern ◽  
Mirna Seed

miRNAs are a class of noncoding RNAs important in posttranscriptional repressors and involved in the regulation of almost every biological process by base paring with target genes through sequence in their seed regions. Genetic variations in the seed regions have vital effects on gene expression, phenotypic variation, and disease susceptibility in humans. The distribution pattern of genetic variation in miRNA seed regions might be related to miRNA function and is worth paying more attention to. We here employed computational analyses to explore the clustering pattern and functional effect of SNPs in human miRNA seed regions. A total of 1879 SNPs were mapped to 1226 human miRNA seed regions. We found that miRNAs with SNPs in their seed region are significantly enriched in miRNA clusters. We also found that SNPs in clustered miRNA seed regions have a lower functional effect than have SNPs in nonclustered miRNA seed regions. Additionally, we found that clustered miRNAs with SNPs in seed regions are involved in more pathways. Overall, our results demonstrate that SNPs in clustered miRNA seed regions can take part in more intricate and complex gene-regulating networks with lower functional cost by functional complementarity. Moreover, our results also broaden current knowledge on the genetic variation in human miRNA seed regions.

Major stopover regions and migratory bottlenecks for Nearctic-Neotropical landbirds within the Neotropics: a review

2017 ◽  
Vol 28 (1) ◽  
pp. 1-26 ◽  
Author(s):  
NICHOLAS J. BAYLY ◽  
KENNETH V. ROSENBERG ◽  
WENDY E. EASTON ◽  
CAMILA GÓMEZ ◽  
JAY CARLISLE ◽  
...  
Keyword(s):  
Sierra Nevada ◽  
Migratory Birds ◽  
Current Knowledge ◽  
Boreal Winter ◽  
Long Distance ◽  
Important Distinction ◽  
Conservation Actions ◽  
Neotropical Migratory Birds ◽  
And Migration ◽  
Multiple Species

SummaryNearly 300 species of landbirds, whose populations total billions, migrate between the Neotropics and North America. Many migratory populations are in steep decline, and migration is often identified as the greatest source of annual mortality. Identifying birds’ needs on migration is therefore central to designing conservation actions for Nearctic-Neotropical migratory birds; yet migration through the Neotropics is a significant knowledge gap in our understanding of the full annual cycle. Here, we synthesise current knowledge of Neotropical stopover regions and migratory bottlenecks, focusing on long-distance, migratory landbirds that spend the boreal winter in South America. We make the important distinction between “true” stopover—involving multi-day refuelling stops—and rest-roost stops lasting < 24 hours, citing a growing number of studies that show individual landbirds making long stopovers in just a few strategic areas, to accumulate large energy reserves for long-distance flights. Based on an exhaustive literature search, we found few published stopover studies from the Neotropics, but combined with recent tracking studies, they describe prolonged stopovers for multiple species in the Orinoco grasslands (Llanos), the Sierra Nevada de Santa Marta (Colombia), and the Yucatan Peninsula. Bottlenecks for diurnal migrants are well described, with the narrowing Central American geography concentrating millions of migrating raptors at several points in SE Mexico, Costa Rica, Panama and the Darién. However, diurnally migrating aerial insectivores remain understudied, and determining stopover/roost sites for this steeply declining group is a priority. Despite advances in our knowledge of migration in the Neotropics, we conclude that major knowledge gaps persist. To identify stopover sites and habitats and the threats they face, we propose a targeted and collaborative research agenda at an expanded network of Neotropical sites, within the context of regional conservation planning strategies.

scholarly journals Genetic variation and phylogenetic analysis of rabbit haemorrhagic disease virus (RHDV) strains.

2012 ◽  
Vol 59 (4) ◽  
Author(s):  
Beata Hukowska-Szematowicz ◽  
Beata Tokarz-Deptuła ◽  
Wiesław Deptuła
Keyword(s):  
Genetic Variation ◽  
Disease Virus ◽  
Current Knowledge ◽  
Phylogenetic Analyses ◽  
Evolutionary Relationships ◽  
Rabbit Haemorrhagic Disease Virus ◽  
Structural Protein ◽  
Rabbit Haemorrhagic Disease ◽  
The Family ◽  
Haemorrhagic Disease

Rabbit haemorrhagic disease virus (RHDV) belongs to the family Caliciviridae and is the etiological agent of the haemorrhagic disease, also known as rabbit plague. Its genome is a linear single-stranded (ss) RNA of 7437 nucleotides and the capsid is built from a single structural protein VP60. In connection with the discovery of new RHDV strains, there is a constant need to investigate the genetic variation of this virus and perform phylogenetic analyses which may show the evolutionary relationships among the RHDV strains. Studies on the divergence of RHDV have shown that it is genetically quite stable, although recent observations indicate that some new RHDV strains, significantly different from the original RHDV subtype and the new RHDVa subtype, are appearing. These latest findings suggest that a new group of RHDV strains has evolved. The present review summarizes the current knowledge on the genetic variation and the latest achievements in phylogenetic analyses of RHDV strains isolated in various countries.

Medawar?s medicine: the local-global prescription for conservation actions

2008 ◽  
Vol 14 (2) ◽  
pp. 89
Author(s):  
Robert A. Leidy ◽  
Peggy Lee Fiedler
Keyword(s):  
Invasive Species ◽  
Habitat Fragmentation ◽  
Pacific Islands ◽  
Current Knowledge ◽  
Natural Habitat ◽  
Conservation Science ◽  
Conservation Practice ◽  
Size Number ◽  
Conservation Actions ◽  
Effective Conservation

Duffy and Kraus (2008) provide a broadly relevant and generally insightful overview of what plagues implementation of effective conservation science. That their overview is true is largely because many, if not all, of their insights and proffered solutions to remedy the ineffectiveness of conservation science apply globally. That is, one could replace ?Hawai?i? with any number of other Pacific islands and continental venues, a depressing and rapidly growing list of threatened ecosystems. In essence, the conservation issues raised by Duffy and Kraus are not local, regional, or by any means, unique to Hawai?i, although Hawai?i does represent one of the more challenging places to implement conservation practice successfully. Distinctions between regional (viz., island) and continental environmental crises are becoming blurred as ecosystems become increasingly fragmented and isolated, and their supporting processes altered. For example, California at approximately 40.5 million hectares, 38 million residents, and 150 years of habitat fragmentation now consists of many much smaller natural habitat fragments surrounded by a matrix of human-altered landscapes than only 50 years ago. These island fragments vary in size, number and spatial orientation not unlike island archipelagos. Furthermore, current knowledge gaps are universal, invasive species are invading every island and continent, more species are endangered or extinct than we can possibly know, document or protect, millions of ecosystems worldwide would benefit from some type of protection, active restoration, and management, and all types of conservation activities are grossly under funded around the globe.

scholarly journals Mystery Cats of the World Revisited: Blue Tigers, King Cheetahs, Black Cougars, Spotted Lions, and More by Karl P. N. Shuker

2021 ◽  
Vol 35 (2) ◽  
pp. 433-443
Author(s):  
George Eberhart
Keyword(s):  
Genetic Variation ◽  
Coat Color ◽  
Current Knowledge ◽  
Genetic Relationships ◽  
The Public ◽  
Transporter Protein ◽  
Color Morphs ◽  
The World ◽  
Yellow Pigments ◽  
Bare Minimum

At long last, after 31 years, the first book by noted British zoologist and cryptozoologist Karl Shuker has been expanded and updated. Mystery Cats of the World first appeared in 1989 and was the only book to review feline cryptids worldwide. In this 2020 edition, Shuker repeats this admirable achievement and, in the process, gives us a solid overview of current knowledge of felid evolution, taxonomy, and genetic variation. In fact, the only feline mystery cat he does not describe is Hello Kitty. Shuker has more than kept up with cryptozoology over the years, keeping the public informed with numerous popular books on dragons, new and rediscovered animals, the Loch Ness monster, and many other lesser-known cryptids. His ShukerNature blog and his regular “Alien Zoo” column in Fortean Times provide an always-fascinating glimpse into ongoing cryptozoological controversies. Scientific names and genetic relationships are updated throughout the text in this new edition. He notes that since 1989, our understanding of genes that cause variations in felid coat color has become more complicated. For example, the chinchilla mutation in tyrosinase was then considered responsible for “partial albino” tigers (white tigers with black stripes). In 2020, a point mutation in a transporter protein that prevents the manufacture of pheomelanin (red and yellow pigments) is seen as a more likely cause. Rather than go into great detail about these ongoing discoveries, Shuker sensibly opts to include the bare minimum of updated felid genetics in his discussions of specific cryptids. However, for clarity and comparison he provides a table from the first edition that describes the six major genes and their mutant alleles that in the 1970s were thought by UK geneticist Roy Robinson to be responsible for major cat color morphs. (Believe me, this chart comes in handy throughout the book.)

Exploring Human Genetic Variation – Scientific and Ethical Challenges

2018 ◽  
Author(s):  
Paula Dobosz ◽  
Jakub Zawiła-Niedźwiecki
Keyword(s):  
Genetic Variation ◽  
High Throughput Sequencing ◽  
Current Knowledge ◽  
Human Genetic Variation ◽  
Ethical Challenges ◽  
New Techniques ◽  
Public And Private ◽  
Sequencing Technologies ◽  
Health And Disease ◽  
And Storage

Since the genomic era is a reality nowadays, we need deeper understanding and consideration upon the benefits and challenges it brings. Apart from all the enthusiasm, there are also concerns related to genomics, specifically to the use and storage of personal genetic information as well as concerns regarding, for instance, so-called incidental findings, and right not to know. It started with Mendel&rsquo;s simple experiments, but led to high-throughput sequencing technologies, resulting complex genomic data is constantly poured into public and private databases, inevitably changing our current knowledge. With the advent of new techniques and methods, like CRISPR/Cas9 engineering, researchers are provided with improved and expanded repertoire of research tools to analyse an organism in health and disease. This paper is aimed at providing examples of the applications and challenges, both practical and theoretical, in exploring human genetic variation.

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