scholarly journals Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family

2021 ◽  
Author(s):  
Cristina Balla ◽  
Daniela Mele ◽  
Francesco Vitali ◽  
Chiara Andreoli ◽  
Elisabetta Tonet ◽  
...  
Keyword(s):  
Phenotypic Expression

Laboratory Exercise on the Segregation of Flower Color and Related Genes Using Salpiglossis sinuata

HortScience ◽  
1998 ◽  
Vol 33 (3) ◽  
pp. 555b-555
Author(s):  
Chiwon W. Lee
Keyword(s):  
Phenotypic Expression ◽  
Pollen Grains ◽  
Flower Color ◽  
Segregation Ratio ◽  
Crop Breeding ◽  
Flower Opening ◽  
Pigmentation Pattern ◽  
Laboratory Exercise ◽  
Demonstration Plant ◽  
Corolla Color

Velvet flower (Salpiglossis sinuata, Solanaceae) can be used as an excellent demonstration plant for horticultural crop breeding classes. Salpiglossis produces large trumpet-like flowers exhibiting an assortment of corolla color and pigmentation pattern. The pistil is large (3 to 4 cm long) with a sticky stigmatal tip and anthers can be easily emasculated prior to anthesis. The large pollen grains are shed in tetrads, which can be separated and individually placed on the stigma. It takes 8 to 9 weeks from seeding to blooming, with a prolific flowering cycle repeated in flushes. Numerous seeds (about 750/capsule) are obtained in 3 weeks after self- or cross-pollination. The influences of three genes that control flower color and pigmentation pattern can be conveniently demonstrated with their dominant and recessive alleles. The R gene controls flower color with red (RR or Rr) being dominant over yellow (rr) flower color. The D gene controls the density of pigmentation with solid (DD or Dd) color being dominant over dilute (dd) color. Corolla color striping is controlled by the St gene with striped (stst) being recessive to non-striped (StSt or Stst) pattern. For example, by using diploid lines of genotypes RRDD (red, solid), RRdd (red, dilute), or rrdd (yellow, dilute) and their crosses, students can easily learn a dominant phenotypic expression in the F1 hybrid and the digenic 9:3:3:1 segregation ratio in the F2 progeny. Another gene (C) that controls flower opening can also be used to show its influence on cleistogamous (closed, self-pollinated, CC or Cc) versus normal chasmogamous (open-pollinated, cc) corolla development. In addition, the induction and use of polyploid (4X, 3X) plants in plant breeding can be effectively demonstrated using this species.

Virulence factors associated with organisms causing asymptomatic bacteriuria in pregnant females attending a tertiary care hospital

2017 ◽  
Vol 6 (05) ◽  
pp. 5373
Author(s):  
Prabha Ponnusamy* ◽  
Radhika Katragadda ◽  
Thyagarajan Ravinder
Keyword(s):  
Virulence Factors ◽  
Host Defense ◽  
Virulence Factor ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Asymptomatic Bacteriuria ◽  
Phenotypic Expression ◽  
Care Hospital ◽  
Cross Sectional ◽  
Pregnant Females

Asymptomatic bacteriuria (ASB), most common during pregnancy is endangering as it may lead to maternal and fetal complications. Various organisms causing ASB combats the host defense mechanisms through virulence factors exhibited by them. In order to understand the pathogenesis and sequelae of infections, virulence factors like hemolysin production, gelatinase production, haemagglutination, biofilm production and many more should be identified. Hence, we aimed at studying the distribution of virulence factors among each organism causing asymptomatic bacteriuria in pregnant females attending a tertiary care hospital. Materials and Methods: This cross-sectional study was conducted in Department of Microbiology over a period of one year and six months (January 2014 to June 2015) at a tertiary care teaching hospital. A total of 1000 urine samples were included in study taken from pregnant women with asymptomatic bacteriuria. Isolation, identification of organisms was done according to standard microbiological techniques and virulence factors for individual organisms by phenotypic method were tested. Results: Out of 1000 samples screened for ASB, organisms were isolated in following frequency distribution: Escherichia coli, the commonest 54/118 (45.76%), Klebsiella pneumoniae 21/118 (17.80%), Staphylococcus aureus 19/118 (16.10%), Staphylococcus saprophyticus 10/118 (8.45%), Enterococcus faecalis 9/118 (7.63%), Pseudomonas aeruginosa 3/118 (2.54%) and Proteus mirabilis 2/118 (1.69%). Virulence factors for individual organisms and biofilm detection for all organisms were done. Conclusion: Multifactorial mechanisms determine the pathogenicity of an organism and it needs to be explored by analyzing each virulence factor and mechanism of invasion in combating the host defense systems. Hence analyzing the phenotypic expression of each virulence factor helps in better understanding about the complications of ASB.

Nephrotoxicity Testing In Vitro: The Current Situation

1997 ◽  
Vol 25 (5) ◽  
pp. 497-503
Author(s):  
Jean-Paul Morin ◽  
Marc E. De Broe ◽  
Walter Pfaller ◽  
Gabriele Schmuck
Keyword(s):  
Proximal Tubule ◽  
Culture Media ◽  
Task Force ◽  
Primary Cultures ◽  
Phenotypic Expression ◽  
Transepithelial Transport ◽  
Specific Cell ◽  
Proximal Tubule Cells ◽  
Tubule Cells

An ECVAM task force on nephrotoxicity has been established to advise, in particular, on the follow-up to recommendations made in the ECVAM workshop report on nephrotoxicity testing in vitro. Since this workshop was held, in 1994, there have been several improvements in the techniques used. For example, the duration of renal slice viability, and the maintenance of functional activities in slices, have been improved by using dynamic incubation systems with higher oxygen tensions and more-appropriate cell culture media. Highly differentiated primary cultures of pig, human and rabbit proximal tubule cells have been established by using specific cell isolation procedures and/or selective culture media. To date, the most comparable phenotypic expression and transepithelial transport capacities to proximal tubules in vivo have been obtained with primary cultures of rabbit proximal tubule cells which are grown on bicompartmental supports; in this system, transepithelial substrate gradients are generated and the transepithelial transport of both organic anions and cations is highly active. This in vitro system has been selected by ECVAM for further evaluation and prevalidation. Industrial needs in the area of nephrotoxicity testing have been identified, and recommendations are made at the end of this report concerning possible future initiatives.

scholarly journals Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

2021 ◽  
pp. 1-21
Author(s):  
Antonio Atalaia ◽  
Rabah Ben Yaou ◽  
Karim Wahbi ◽  
Annachiara De Sandre-Giovannoli ◽  
Corinne Vigouroux ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Case Reports ◽  
Phenotypic Expression ◽  
Genetic Diagnosis ◽  
Specific Treatment ◽  
Case Series ◽  
Treatment Recommendations ◽  
Scientific Data ◽  
Bibliographic Databases ◽  
Central Registry

Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based. Objective: The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production. Methods: Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Results: From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable. Conclusions: We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect’s Genome Phenome Analysis Platform.

white+ Transgene Insertions Presenting a Dorsal/Ventral Pattern Define a Single Cluster of Homeobox Genes That Is Silenced by the Polycomb-group Proteins in Drosophila melanogaster

Genetics ◽  
1998 ◽  
Vol 149 (1) ◽  
pp. 257-275 ◽  
Author(s):  
Sophie Netter ◽  
Marie-Odile Fauvarque ◽  
Ruth Diez del Corral ◽  
Jean-Maurice Dura ◽  
Dario Coen
Keyword(s):  
Chromatin Structure ◽  
Target Genes ◽  
Position Effect ◽  
Phenotypic Expression ◽  
Positional Information ◽  
Genomic Region ◽  
Polycomb Group ◽  
Position Effect Variegation ◽  
Trithorax Group ◽  
Clear Cut

AbstractWe used the white gene as an enhancer trap and reporter of chromatin structure. We collected white+ transgene insertions presenting a peculiar pigmentation pattern in the eye: white expression is restricted to the dorsal half of the eye, with a clear-cut dorsal/ventral (D/V) border. This D/V pattern is stable and heritable, indicating that phenotypic expression of the white reporter reflects positional information in the developing eye. Localization of these transgenes led us to identify a unique genomic region encompassing 140 kb in 69D1–3 subject to this D/V effect. This region contains at least three closely related homeobox-containing genes that are constituents of the iroquois complex (IRO-C). IRO-C genes are coordinately regulated and implicated in similar developmental processes. Expression of these genes in the eye is regulated by the products of the Polycomb -group (Pc-G) and trithorax-group (trx-G) genes but is not modified by classical modifiers of position-effect variegation. Our results, together with the report of a Pc -G binding site in 69D, suggest that we have identified a novel cluster of target genes for the Pc-G and trx-G products. We thus propose that ventral silencing of the whole IRO-C in the eye occurs at the level of chromatin structure in a manner similar to that of the homeotic gene complexes, perhaps by local compaction of the region into a heterochromatin-like structure involving the Pc-G products.

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