scholarly journals Determination of the Loss of Function Complement C4 Exon 29 CT Insertion Using a Novel Paralog-Specific Assay in Healthy UK and Spanish Populations

PLoS ONE ◽  
2011 ◽  
Vol 6 (8) ◽  
pp. e22128 ◽  
Author(s):  
Lora Boteva ◽  
Yee Ling Wu ◽  
Josefina Cortes-Hernández ◽  
Javier Martin ◽  
Timothy J. Vyse ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Complement C4 ◽  
Specific Assay ◽  
Spanish Populations

par-4, a gene required for cytoplasmic localization and determination of specific cell types in Caenorhabditis elegans embryogenesis.

Genetics ◽  
1992 ◽  
Vol 130 (4) ◽  
pp. 771-790 ◽  
Author(s):  
D G Morton ◽  
J M Roos ◽  
K J Kemphues
Keyword(s):  
Caenorhabditis Elegans ◽  
Cell Types ◽  
Intestinal Cells ◽  
Specific Cell ◽  
Cytoplasmic Localization ◽  
Loss Of Function ◽  
Embryo Viability ◽  
Cell Stage ◽  
Maternal Genome

Abstract Specification of some cell fates in the early Caenorhabditis elegans embryo is mediated by cytoplasmic localization under control of the maternal genome. Using nine newly isolated mutations, and two existing mutations, we have analyzed the role of the maternally expressed gene par-4 in cytoplasmic localization. We recovered seven new par-4 alleles in screens for maternal effect lethal mutations that result in failure to differentiate intestinal cells. Two additional par-4 mutations were identified in noncomplementation screens using strains with a high frequency of transposon mobility. All 11 mutations cause defects early in development of embryos produced by homozygous mutant mothers. Analysis with a deficiency in the region indicates that it33 is a strong loss-of-function mutation. par-4(it33) terminal stage embryos contain many cells, but show no morphogenesis, and are lacking intestinal cells. Temperature shifts with the it57ts allele suggest that the critical period for both intestinal differentiation and embryo viability begins during oogenesis, about 1.5 hr before fertilization, and ends before the four-cell stage. We propose that the primary function of the par-4 gene is to act as part of a maternally encoded system for cytoplasmic localization in the first cell cycle, with par-4 playing a particularly important role in the determination of intestine. Analysis of a par-4; par-2 double mutant suggests that par-4 and par-2 gene products interact in this system.

A Cuticle Collagen Encoded by the lon-3 Gene May Be a Target of TGF-β Signaling in Determining Caenorhabditis elegans Body Shape

Genetics ◽  
2002 ◽  
Vol 162 (4) ◽  
pp. 1631-1639
Author(s):  
Yo Suzuki ◽  
Gail A Morris ◽  
Min Han ◽  
William B Wood
Keyword(s):  
Caenorhabditis Elegans ◽  
Body Shape ◽  
Small Body ◽  
Dependent Manner ◽  
Loss Of Function ◽  
Cellular Mechanisms ◽  
C Elegans ◽  
Gene Expression Analyses ◽  
Dose Dependent

Abstract The signaling pathway initiated by the TGF-β family member DBL-1 in Caenorhabditis elegans controls body shape in a dose-dependent manner. Loss-of-function (lf) mutations in the dbl-1 gene cause a short, small body (Sma phenotype), whereas overexpression of dbl-1 causes a long body (Lon phenotype). To understand the cellular mechanisms underlying these phenotypes, we have isolated suppressors of the Sma phenotype resulting from a dbl-1(lf) mutation. Two of these suppressors are mutations in the lon-3 gene, of which four additional alleles are known. We show that lon-3 encodes a collagen that is a component of the C. elegans cuticle. Genetic and reporter-gene expression analyses suggest that lon-3 is involved in determination of body shape and is post-transcriptionally regulated by the dbl-1 pathway. These results support the possibility that TGF-β signaling controls C. elegans body shape by regulating cuticle composition.

scholarly journals Ppd-1 Remodels Spike Architecture by Regulating Floral Development in wheat

2020 ◽  
Author(s):  
Yangyang Liu ◽  
Lili Zhang ◽  
Michael Melzer ◽  
Liping Shen ◽  
Zhiwen Sun ◽  
...  
Keyword(s):  
Grain Yield ◽  
Floral Development ◽  
Vascular System ◽  
Dry Weight ◽  
Expression Data ◽  
Loss Of Function ◽  
Distinct Allele ◽  
Underlying Mechanisms ◽  
Photoperiod Sensitive

AbstractThe determination of spike architecture is critical to grain yield in wheat (Triticum aestivum), yet the underlying mechanisms remain largely unknown. Here, we measured 51 traits associated with spike architecture and floral development in 197 wheat accessions with photoperiod sensitive and insensitive alleles. We included five distinct allele combinations at the Photoperiod-1 (Ppd-1) loci. A systematic dissection of all recorded phenotypes revealed connections between floral development, spike architecture and grain yield. Modifying the durations of spikelet primordia initiation did not necessarily affect spikelet number. In addition, Ppd-1 loci clearly influenced rachis dry weight, pointing to the rachis vascular system as a potential target for higher yield. Ppd-1 displayed opposite effects on the durations of pre and post-anthesis phases. Ppd-1 controlled carpel size, but not anther size. Finally, the photoperiod-insensitive alleles of Ppd-1 triggered floral degeneration. In parallel, we profiled the spike transcriptome at six stages and four positions in three Ppd-1 genotypes which consists of 234 samples. Integrating phenotypic and expression data suggested that loss of function in Ppd-1 loci delayed floral degeneration by regulating autophagy and extended floret development by regulating genes in different families. Therefore, we concluded that Ppd-1 remodels spike architecture by regulating floral development in wheat.

A New Specific Assay for Urinary Creatinine

1969 ◽  
Vol 15 (9) ◽  
pp. 879-883 ◽  
Author(s):  
Surendra N Sinha ◽  
Elemer R Gabrieli
Keyword(s):  
Simultaneous Determination ◽  
Phosphate Buffer ◽  
Hippuric Acid ◽  
Gel Filtration ◽  
Urinary Creatinine ◽  
Specific Assay ◽  
Other Substances ◽  
Subsequent Measurement ◽  
Standard Deviations

Abstract A new specific assay for urinary creatinine is described. The procedure is based on the separation of creatinine from other urinary components by Sephadex gel filtration, and subsequent measurement of the compound at 235 nm against a phosphate buffer blank. No interference by other substances has been encountered. The standard deviations in a series of assays using standard solutions are less than 2%, and the recovery of added known amounts of creatinine from urine is excellent. The method has been found satisfactory for simultaneous determination of creatinine and hippuric acid in urine.

scholarly journals Parkin truncating variants result in a loss-of-function phenotype

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Mariana Santos ◽  
Sara Morais ◽  
Conceição Pereira ◽  
Jorge Sequeiros ◽  
Isabel Alonso
Keyword(s):  
Autosomal Recessive ◽  
Genetic Basis ◽  
Neurodegenerative Disorder ◽  
Causative Role ◽  
Loss Of Function ◽  
Portuguese Population ◽  
Juvenile Onset ◽  
Ubiquitin E3 Ligase ◽  
Spanish Populations ◽  
Common Neurodegenerative Disorder

Abstract Parkinson disease (PD) is the second most common neurodegenerative disorder. Most cases of PD are sporadic, while 5–10% have a known genetic basis. Variants in the PARK2 gene are the most frequent cause of autosomal recessive juvenile-onset PD. PARK2 encodes parkin, a multi-domain protein that functions as an ubiquitin E3 ligase. Numerous variants spanning all parkin domains have been identified, although the pathogenic relevance for several of those remains unclear. In this study, we aimed to functionally characterize two truncating parkin variants: N52Mfs*29, which is highly prevalent in the Portuguese and Spanish populations, and L358Rfs*77, recently identified in the Portuguese population. Our results indicate that both variants are prematurely degraded by the proteasome, even though proteins levels are still moderate. We also showed that they are aggregation-prone and lead to mislocalized parkin. Interestingly, the L358Rfs*77 variant is mislocalized to the nucleus, which was never reported for parkin variants. While N52Mfs*29 impaired self-ubiquitination activity, the L358Rfs*77 variant seemed to retain it. Both variants, however, fail to ubiquitinate p62 substrate and did not relocalize to depolarized mitochondria. Therefore, we conclude that parkin truncating variants cause loss of parkin function, thus showing their causative role in PD pathogenesis.

scholarly journals Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations

2012 ◽  
Vol 90 (3) ◽  
pp. 445-456 ◽  
Author(s):  
Lora Boteva ◽  
David L. Morris ◽  
Josefina Cortés-Hernández ◽  
Javier Martin ◽  
Timothy J. Vyse ◽  
...  
Keyword(s):  
Risk Factors ◽  
Complement C4 ◽  
Spanish Populations ◽  
C4 Deficiency ◽  
Independent Risk Factors ◽  
Genetically Determined

scholarly journals Caenorhabditis elegans as a Model Organism to Evaluate the Antioxidant Effects of Phytochemicals

Molecules ◽  
2020 ◽  
Vol 25 (14) ◽  
pp. 3194
Author(s):  
Begoña Ayuda-Durán ◽  
Susana González-Manzano ◽  
Ana M. González-Paramás ◽  
Celestino Santos-Buelga
Keyword(s):  
Oxidative Stress ◽  
Caenorhabditis Elegans ◽  
Model Organism ◽  
Lipid Peroxides ◽  
Biological Research ◽  
Loss Of Function ◽  
Fluorescent Reporters ◽  
C Elegans ◽  
High Degree

The nematode Caenorhabditis elegans was introduced as a model organism in biological research by Sydney Brenner in the 1970s. Since then, it has been increasingly used for investigating processes such as ageing, oxidative stress, neurodegeneration, or inflammation, for which there is a high degree of homology between C. elegans and human pathways, so that the worm offers promising possibilities to study mechanisms of action and effects of phytochemicals of foods and plants. In this paper, the genes and pathways regulating oxidative stress in C. elegans are discussed, as well as the methodological approaches used for their evaluation in the worm. In particular, the following aspects are reviewed: the use of stress assays, determination of chemical and biochemical markers (e.g., ROS, carbonylated proteins, lipid peroxides or altered DNA), influence on gene expression and the employment of mutant worm strains, either carrying loss-of-function mutations or fluorescent reporters, such as the GFP.

scholarly journals Development of a Fluorescent-Bead-Based Multiplex Immunoassay To Determine Immunoglobulin G Subclass Responses to Neisseria meningitidis Serogroup A and C Polysaccharides

2008 ◽  
Vol 15 (8) ◽  
pp. 1188-1193 ◽  
Author(s):  
Richarda M. de Voer ◽  
Fiona R. M. van der Klis ◽  
Carla W. A. M. Engels ◽  
Ger T. Rijkers ◽  
Elisabeth A. Sanders ◽  
...  
Keyword(s):  
Neisseria Meningitidis ◽  
Immunoglobulin G ◽  
Serum Immunoglobulin ◽  
Igg Subclass ◽  
Fluorescent Particle ◽  
Multiplex Immunoassay ◽  
Specific Assay ◽  
Flow Cytometric ◽  
Immunoglobulin G Subclass

ABSTRACT A fluorescent-particle-based multiplex flow cytometric immunoassay (MIA) for the detection of serum immunoglobulin G (IgG) and two IgG subclasses, IgG1 and IgG2, specific for Neisseria meningitidis serogroup A (MenA) and C (MenC) polysaccharides (PS) was developed. The assay comprised three separate duplex assays, one for the detection of the IgG response to MenA and MenC PS, another for the detection of the IgG1 response to MenA and MenC PS, and a third for the detection of the IgG2 response to MenA and MenC PS. Next, the three separate duplex assays were combined and analyzed as a hexaplex assay. No interference between monoplex, duplex, and hexaplex assays was observed, and the assay was found to have low intra- and interassay variation (<9.0% and <27%, respectively). Comparison of the meningococcal subclass MIA to the in-house enzyme-linked inmmunosorbent assays showed a good correlation (R ≥ 0.85) for each of the subclasses. We conclude that the hexaplex meningococcal subclass MIA is an easy and specific assay for the determination of anti-MenA and anti-MenC PS subclass IgG, requiring minimal amounts of serum to study IgG subclass responses to vaccines.

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