Variations in ATP7B in cats with primary copper-associated hepatopathy

2019 ◽  
Vol 22 (8) ◽  
pp. 753-759
Author(s):  
Hajime Asada ◽  
James K Chambers ◽  
Mari Kojima ◽  
Yuko Goto-Koshino ◽  
Taisuke Nakagawa ◽  
...  
Keyword(s):  
The Other ◽  
Copper Accumulation ◽  
Limited Information ◽  
Single Nucleotide ◽  
Serum Ceruloplasmin ◽  
Hepatic Copper ◽  
Single Nucleotide Variations ◽  
Tissue Specimens ◽  
Ceruloplasmin Activity ◽  
Low Serum

Objectives Primary copper-associated hepatopathy (PCH) has been reported in young cats. Although our group recently reported a young cat with PCH harbouring single-nucleotide variations in ATP7B, limited information is available regarding its association with the pathogenesis of feline PCH. The objective of this study was to investigate the prevalence of ATP7B variations in cats with PCH. Methods Rhodanine staining was performed to detect hepatic copper accumulation (HCA) in intraoperative liver tissue specimens from 54 cats. In cats with HCA, variations in ATP7B and COMMD1 and serum ceruloplasmin activity were analysed. Results Based on age, liver histopathological findings and hepatic distribution of accumulated copper, PCH was suspected in 4/54 cats. Sequence analysis of ATP7B and COMMD1 revealed single-nucleotide variations in ATP7B in 3/4 cats with PCH. Among the cats with PCH, one showed remarkably low serum ceruloplasmin activity, while the other three did not. Conclusions and relevance The results of this study suggest that some cats with PCH harbour single-nucleotide variations in ATP7B, suggesting that feline PCH is an equivalent disorder to human Wilson’s disease. This study provides basic evidence facilitating further studies of the pathophysiology and treatment of feline PCH.

Aortic lesions in copper deficiency: Modification by dietary carbohydrates

1986 ◽  
Vol 44 ◽  
pp. 358-359
Author(s):  
U. Bielenberg
Keyword(s):  
Copper Deficiency ◽  
Male Rats ◽  
Dietary Carbohydrates ◽  
Dietary Copper ◽  
Serum Ceruloplasmin ◽  
Hepatic Copper ◽  
Dietary Treatments ◽  
Feeding Diets ◽  
Ceruloplasmin Activity ◽  
Simple Carbohydrate

Copper deficiency can cause cardiovascular lesions in experimental animals. Previous experiments have shown that the biochemical and itDrphologic lesions induced by deprivation of dietary copper can be suppressed by feeding diets containing starch or can be magnified by a high sucrose diet. In a recent study it was found that the more severe signs of copper deficiency in rats fed sucrose as compared to starch were due to the fructose moiety of sucrose. Although fructose as compared to starch markedly enhanced the symptoms of copper deficiency, the possibility that an effect of dietary carbohydrates due to the nature of the simple carbohydrate (fructose vs glucose) cannot be excluded. The present study was designed to determine if the severity of copper deficiency in rats fed sucrose as compared to starch is due to the glucose as well as the fructose moiety of sucrose. This portion of the study assessed the morphologic changes in aortas of seventy weanling male rats who were fed, for 9 weeks, copper deficient or copper supplemented diets containing either 62% starch, fructose or glucose. The starch-fed copper supplemented group served as the most normal controls. Rats were sacrificed after 9 weeks of dietary treatments. Copper deficiency was verified by reduced serum ceruloplasmin activity and serum and hepatic copper concentration.

scholarly journals Analysis of genomic distributions of SARS-CoV-2 reveals a dominant strain type with strong allelic associations

2020 ◽  
Vol 117 (48) ◽  
pp. 30679-30686
Author(s):  
Hsin-Chou Yang ◽  
Chun-houh Chen ◽  
Jen-Hung Wang ◽  
Hsiao-Chi Liao ◽  
Chih-Ting Yang ◽  
...  
Keyword(s):  
The Other ◽  
Single Nucleotide ◽  
Protein Coding ◽  
Dominant Type ◽  
Coding Regions ◽  
Uncertain Significance ◽  
Direct Interpretation ◽  
Complete Sequences ◽  
Strain Type ◽  
Single Nucleotide Variations

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causal agent of COVID 19, continues to evolve since its first emergence in December 2019. Using the complete sequences of 1,932 SARS-CoV-2 genomes, various clustering analyses consistently identified six types of the strains. Independent of the dendrogram construction, 13 signature variations in the form of single nucleotide variations (SNVs) in protein coding regions and one SNV in the 5′ untranslated region (UTR) were identified and provided a direct interpretation for the six types (types I to VI). The six types of the strains and their underlying signature SNVs were validated in two subsequent analyses of 6,228 and 38,248 SARS-CoV-2 genomes which became available later. To date, type VI, characterized by the four signature SNVs C241T (5′UTR), C3037T (nsp3 F924F), C14408T (nsp12 P4715L), and A23403G (Spike D614G), with strong allelic associations, has become the dominant type. Since C241T is in the 5′ UTR with uncertain significance and the characteristics can be captured by the other three strongly associated SNVs, we focus on the other three. The increasing frequency of the type VI haplotype 3037T-14408T-23403G in the majority of the submitted samples in various countries suggests a possible fitness gain conferred by the type VI signature SNVs. The fact that strains missing one or two of these signature SNVs fail to persist implies possible interactions among these SNVs. Later SNVs such as G28881A, G28882A, and G28883C have emerged with strong allelic associations, forming new subtypes. This study suggests that SNVs may become an important consideration in SARS-CoV-2 classification and surveillance.

Rancang Bangun Sistem Informasi Zakat Infaq Shodaqoh Menggunakan Metodologi Extreme Programming

2018 ◽  
Vol 9 (1) ◽  
pp. 31-42
Author(s):  
Rysa Sahrial
Keyword(s):  
Information System ◽  
The Other ◽  
Extreme Programming ◽  
Limited Time ◽  
Limited Information ◽  
Research Information ◽  
Development Method ◽  
Know How ◽  
Five Factors ◽  
Research Information System

Poverty is one continuing social issue which is hard to solve. Dealing with this problem, Islam has already had the alternative solution that is tithe (Zakat). Zakat is implemented to decrease economy imbalanced appeared in the society. While in fact, not all the Moslem pay Zakat. There are five factors as the reason why Moslem didn’t do that. First, some Muzakki wants to deliver his zakat directly.Seconde, not all Muzakki know how much Zakat must be paid. The other factors are Limited information about Mustahik home, limited time that Muzakki have to deliver his Zakat directly and the easiness to report Mustahik data. Dealing with those factors, it is required to have an information system which can make Muzakki meets Mustahik. In this research, information system application used Extreme Programming (XP) development method. XP method is required to program a system which will be made by accomodating the users’ needs and expectations.

Assessment of copper accumulation in archived liver specimens from cats

2020 ◽  
pp. 1098612X2096135
Author(s):  
Punyamanee Yamkate ◽  
Randi M Gold ◽  
Panagiotis G Xenoulis ◽  
Katja Steiger ◽  
David C Twedt ◽  
...  
Keyword(s):  
Infectious Disease ◽  
Hepatic Steatosis ◽  
Dry Weight ◽  
Reference Interval ◽  
Copper Accumulation ◽  
Zonal Distribution ◽  
Tissue Samples ◽  
Hepatic Copper ◽  
Liver Copper ◽  
Flame Atomic Absorption

Objectives The aim of this study was to assess hepatic copper concentrations and zonal distribution in cat liver specimens. Methods For this study, 121 archived, formalin-fixed, paraffin-embedded liver specimens from cats were used. Tissue sections were stained for copper with rhodanine and scored from 0 (no copper accumulation) to 5 (panlobular copper accumulation). The tissue specimens were then deparaffinized and hepatic copper concentrations were measured using flame atomic absorption spectroscopy. Results Tissue samples were categorized into four groups based on histopathologic findings: (1) no significant histopathologic hepatic changes (n = 66); (2) hepatic steatosis (n = 18); (3) inflammatory or infectious disease (n = 24); and (4) neoplasia (n = 13). Of the 121 specimens, 13 (11%) stained positive for copper, with three having a score ⩾3. Thirty-seven specimens (31%) had copper concentrations above the reference interval ([RI] <180 µg/g dry weight liver). Copper concentrations in cats with hepatic inflammatory or infectious disease were significantly higher than cats with hepatic steatosis ( P = 0.03). Copper-staining score and concentration were positively correlated ( rs = 0.46, P <0.001). Conclusions and relevance Despite the fact that 31% of specimens had copper concentrations above the RI, only 11% showed positive copper staining and only 2.5% had a score ⩾3. Our findings suggest that hepatic copper concentrations greater than the upper limit of the RI are relatively common in cats. Further studies to determine the factors that influence hepatic copper staining in cats and to establish contemporary RIs for hepatic copper in healthy cats are warranted.

scholarly journals Cytosine and adenine deaminase base-editors induce broad and nonspecific changes in gene expression and splicing

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Jiao Fan ◽  
Yige Ding ◽  
Chao Ren ◽  
Ziguo Song ◽  
Jie Yuan ◽  
...  
Keyword(s):  
Gene Expression ◽  
Double Strand Breaks ◽  
Great Promise ◽  
Single Nucleotide ◽  
Strand Breaks ◽  
Dna Base ◽  
Target Dna ◽  
Single Nucleotide Variations ◽  
Adenine Deaminase ◽  
Target Rna

AbstractCytosine or adenine base editors (CBEs or ABEs) hold great promise in therapeutic applications because they enable the precise conversion of targeted base changes without generating of double-strand breaks. However, both CBEs and ABEs induce substantial off-target DNA editing, and extensive off-target RNA single nucleotide variations in transfected cells. Therefore, the potential effects of deaminases induced by DNA base editors are of great importance for their clinical applicability. Here, the transcriptome-wide deaminase effects on gene expression and splicing is examined. Differentially expressed genes (DEGs) and differential alternative splicing (DAS) events, induced by base editors, are identified. Both CBEs and ABEs generated thousands of DEGs and hundreds of DAS events. For engineered CBEs or ABEs, base editor-induced variants had little effect on the elimination of DEGs and DAS events. Interestingly, more DEGs and DAS events are observed as a result of over expressions of cytosine and adenine deaminases. This study reveals a previously overlooked aspect of deaminase effects in transcriptome-wide gene expression and splicing, and underscores the need to fully characterize such effects of deaminase enzymes in base editor platforms.

Hepatic Copper Accumulation Induces DNA Strand Breaks in the Liver Cells of Long-Evans Cinnamon Strain Rats

2000 ◽  
Vol 276 (1) ◽  
pp. 174-178 ◽  
Author(s):  
Masanobu Hayashi ◽  
Tomoko Kuge ◽  
Daiji Endoh ◽  
Kenji Nakayama ◽  
Jiro Arikawa ◽  
...  
Keyword(s):  
Dna Strand Breaks ◽  
Liver Cells ◽  
Copper Accumulation ◽  
Strand Breaks ◽  
Hepatic Copper ◽  
Long Evans ◽  
Dna Strand

scholarly journals Proteome-Wide Analysis of Single-Nucleotide Variations in the N-Glycosylation Sequon of Human Genes

PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e36212 ◽  
Author(s):  
Raja Mazumder ◽  
Krishna Sudeep Morampudi ◽  
Mona Motwani ◽  
Sona Vasudevan ◽  
Radoslav Goldman
Keyword(s):  
Single Nucleotide ◽  
Human Genes ◽  
Single Nucleotide Variations

scholarly journals Cloning of an Avian Adeno-Associated Virus (AAAV) and Generation of Recombinant AAAV Particles

2003 ◽  
Vol 77 (12) ◽  
pp. 6799-6810 ◽  
Author(s):  
Ioannis Bossis ◽  
John A. Chiorini
Keyword(s):  
Nucleotide Substitution ◽  
Amino Acid Level ◽  
The Other ◽  
Transduction Efficiency ◽  
Entire Genome ◽  
Single Nucleotide ◽  
Adeno Associated Virus ◽  
Reading Frame ◽  
Palindromic Structure ◽  
The Relationship

ABSTRACT Recent studies have proposed that adeno-associated viruses (AAVs) are not evolutionarily linked to other mammalian autonomous parvoviruses but are more closely linked to the autonomous parvoviruses of birds. To better understand the relationship between primate and avian AAVs (AAAVs), we cloned and sequenced the genome of an AAAV (ATCC VR-865) and generated recombinant AAAV particles. The genome of AAAV is 4,694 nucleotides in length and has organization similar to that of other AAVs. The entire genome of AAAV displays 56 to 65% identity at the nucleotide level with the other known AAVs. The AAAV genome has inverted terminal repeats of 142 nucleotides, with the first 122 forming the characteristic T-shaped palindromic structure. The putative Rep-binding element consists of a tandem (GAGY)4 repeat, and the putative terminal resolution site (trs), CCGGT/CG, contains a single nucleotide substitution relative to the AAV2 trs. The Rep open reading frame of AAAV displays 50 to 54% identity at the amino acid level with the other AAVs, with most of the diversity clustered at the carboxyl and amino termini. Comparison of the capsid proteins of AAAV and the primate dependoviruses indicate that divergent regions are localized to surface-exposed loops. Despite these sequence differences, we were able to produce recombinant AAAV particles carrying a lacZ reporter gene by cotransfection in 293T cells and were able to examine transduction efficiency in both chicken primary cells and several cell lines. Our findings indicate that AAAV is the most divergent AAV described to date but maintains all the characteristics unique to the genera of dependovirus.

A comparison of copper-loading disease in Bedlington terriers and Wilson's disease in humans

1982 ◽  
Vol 243 (3) ◽  
pp. G226-G230 ◽  
Author(s):  
L. C. Su ◽  
S. Ravanshad ◽  
C. A. Owen ◽  
J. T. McCall ◽  
P. E. Zollman ◽  
...  
Keyword(s):  
Copper Concentration ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Normal Brain ◽  
Glutamic Pyruvic Transaminase ◽  
Serum Glutamic Pyruvic Transaminase ◽  
Hepatic Copper ◽  
Erythrocyte Survival ◽  
Ceruloplasmin Activity

Eleven Bedlington terriers were found to have a mean hepatic copper concentration of 6,321 micrograms/g dry wt (normal, 200 micrograms/g dry wt) and renal copper concentration that was three or four times normal. Brain copper levels were normal in younger dogs, were elevated in two older dogs, and were 100 times normal in one dog that died of the disease. Increased concentrations of copper in the liver, kidney, and brain also characterize Wilson's disease. Erythrocyte survival was normal in three affected dogs, but serum glutamic-pyruvic transaminase levels were usually elevated. Unlike the hypoceruloplasminemia of patients with Wilson's disease, plasma ceruloplasmin activity was not only normal but was also slightly elevated in the terriers. Despite their normal or excessive ceruloplasmin, the Bedlington terriers could convert ionic 64Cu to radioceruloplasmin but did so only very slowly. These dogs accumulated significantly more 64Cu in their livers than normal, much like patients with Wilson's disease do before symptoms develop.

scholarly journals Sequence variability ofChrysanthemum stunt viroidin different chrysanthemum cultivars

PeerJ ◽  
2017 ◽  
Vol 5 ◽  
pp. e2933 ◽  
Author(s):  
Hoseong Choi ◽  
Yeonhwa Jo ◽  
Ju-Yeon Yoon ◽  
Seung-Kook Choi ◽  
Won Kyong Cho
Keyword(s):  
Infectious Agents ◽  
Sequence Variability ◽  
Rt Pcr ◽  
Genome Sequences ◽  
Single Nucleotide ◽  
Genomic Variations ◽  
The Family ◽  
Chrysanthemum Plant ◽  
Single Nucleotide Variations ◽  
Polymerase Chain

Viroids are the smallest infectious agents, and their genomes consist of a short single strand of RNA that does not encode any protein.Chrysanthemum stunt viroid(CSVd), a member of the familyPospiviroidae, causes chrysanthemum stunt disease. Here, we report the genomic variations of CSVd to understand the sequence variability of CSVd in different chrysanthemum cultivars. We randomly sampled 36 different chrysanthemum cultivars and examined the infection of CSVd in each cultivar by reverse transcription polymerase chain reaction (RT-PCR). Eleven cultivars were infected by CSVd. Cloning followed by Sanger sequencing successfully identified a total of 271 CSVd genomes derived from 12 plants from 11 cultivars. They were further classified into 105 CSVd variants. Each single chrysanthemum plant had a different set of CSVd variants. Moreover, different single plants from the same cultivar had different sets of CSVd variants but identical consensus genome sequences. A phylogenetic tree using 12 consensus genome sequences revealed three groups of CSVd genomes, while six different groups were defined by the phylogenetic analysis using 105 variants. Based on the consensus CSVd genome, by combining all variant sequences, we identified 99 single-nucleotide variations (SNVs) as well as three nucleotide positions showing high mutation rates. Although 99 SNVs were identified, most CSVd genomes in this study were derived from variant 1, which is identical to known CSVd SK1 showing pathogenicity.

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