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The thrombospondin type 1 repeat domain is found in nearly 100 mammalian proteins with diverse biological functions that include cellular adhesion, angiogenesis, and patterning of the developing nervous system. We have characterized a novel thrombospondin type 1 repeat containing gene, TSRC1, encoding a predicted protein with seven thrombospondin repeats, six of which are clustered at the C-terminus...
The serotonin receptor 1B gene (htr1B) has been suggested to be implicated in mental disorders in both humans and other species. We have isolated a canine bacterial artificial chromosome (BAC) clone containing htr1B, revealed the coding and surrounding DNA sequence of canine htr1B and designed primer sets for genomic sequencing of the gene. A mutation scan in 10 dogs revealed five single nucleotide...
The human forkhead box O1A (FOXO1A) gene belongs to the human forkhead gene family and acts downstream of the human insulin signalling pathway. In this study, polymorphisms of the Intron I of FOXO1A gene were studied in Italian healthy people and insulin resistant subjects. No significant association between the germ-line variability in the Intron I of FOXO1A and insulin resistance was observed. Interestingly,...
The vitamin D endocrine system is involved in a wide variety of biological processes including bone metabolism, modulation of the immune response, and regulation of cell proliferation and differentiation. Variations in this endocrine system have, thus, been linked to several common diseases, including osteoarthritis (OA), diabetes, cancer, cardiovascular disease, and tuberculosis. Evidence to support...
Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene (DES) causes DCM in a human family. Human DCM closely resembles the canine disease. In the present study, we evaluated whether DES gene mutations are responsible for DCM in Dobermann...
The mammalian glycinamide ribonucleotide formyltransferase (GART) genes encode a trifunctional polypeptide involved in the de novo purine biosynthesis. We isolated a bacterial artificial chromosome (BAC) clone containing the bovine GART gene and determined the complete DNA sequence of the BAC clone. Cloning and characterization of the bovine GART gene revealed that the bovine gene consists of 23 exons...
The human protocadherin (Pcdh) gene clusters are located on chromosome 5q31. Single-nucleotide polymorphisms (SNPs) were detected in the Pcdh-α and -β variable exons, and in the Pcdh-α constant exon, in samples from 104 individuals. Among coding SNPs (cSNPs), nonsynonymous (amino acid exchange) SNPs were 2.2 times more common than synonymous (silent) changes in the Pcdh-α variable exons, but only...
An analysis of the diversity of the aspartyl proteases of Plasmodium falciparum, known as plasmepsins (PMs), was completed in view of their possible role as drug targets. DNA sequence polymorphisms were identified in nine pm genes including their non-coding (introns and 5′ flanking) sequences. All genes contained at least one single nucleotide polymorphism (SNP). Extensive microsatellite diversity...
The transforming growth factor beta (TGF beta) family is essential for normal growth and development of different organ systems. Here we describe the isolation and molecular characterization of the full-length cDNA and the determination of the genomic DNA sequence of the porcine TGFBR1 gene. The full-length TGFBR1 cDNA 1813 bp contains an open reading frame (ORF) of 1512 bp encoding a TGFBR1 protein...
Toll-like receptors (TLRs) are a family of recognition receptors playing a crucial role in the innate immune system. Different combinations of TLRs are thought to be crucial for effective immune response, thus insight into the organization and expression of TLRs is important for understanding disease resistance. Mastitis is the most frequent and costly disease in dairy production, and the innate immune...
The melanocortin-4 receptor (MC4R) is expressed in the hypothalamus and regulates energy intake and body weight. In silico screening of the canine chromosome 1 sequence and a comparison with the porcine MC4R sequence by BLAST were performed. The nucleotide sequence of the whole coding region and 3′- and 5′-flanking regions of the dog (1214 bp) and red fox (1177 bp) MC4R gene was established and high...
Glycogen debranching enzyme (AGL) is a multifunctional enzyme acting in the glycogen degradation pathway. In humans, the AGL activity deficiency causes a type III glycogen storage disease (Cori–Forbes disease). One particularity of AGL gene expression lies in the multiple alternative splicing in its 5′ region. The AGL gene was localized on ECA5q14-q15. The sequence of the equine cDNA was determined...
DNA sequence polymorphism and codon usage bias were investigated in a set of 41 nuclear loci in the Pacific oyster Crassostrea gigas. Our results revealed a very high level of DNA polymorphism in oysters, in the order of magnitude of the highest levels reported in animals to date. A total of 290 single nucleotide polymorphisms (SNPs) were detected, 76 of which being localised in exons and 214 in non-coding...
Integrins are heterodimeric cell adhesion molecules with major roles in a variety of biological processes ranging from cell migration to tissue organization, immune and non-immune defense mechanisms and oncogenic transformation. Members of the β 3 integrin subfamily are composed of a β 3 subunit (CD61) non-covalently associated with two α subunits, α IIb (CD41) and α v...
The TOR1A (also named DYT1) gene encodes a protein, TorsinA, a member of the AAA+ superfamily of ATPases. The AAA+ proteins have diverse functions such as organelle biogenesis, proteosome function, chaperone function, membrane trafficking and microtubule regulation. However, the molecular function of TorsinA is still largely unknown. Mutations in the TOR1A gene, primarily a 3-bp (GAG) deletion are...
The paraoxonase (PON) gene family has 3 members, PON1, PON2 and PON3, which are known to be involved in oxidative stress-associated processes such as dyslipidemia, diabetes and coronary heart disease. Although PON3 is the least studied paraoxonase, recent findings have shown that it can significantly reduce atherosclerotic lesion formation and obesity in PON3 transgenic mice. Here, we describe the...
Glutathione S-transferases (GSTs: EC2.5.1.18) are a superfamily of multifunctional dimeric enzymes that catalyze the conjugation of glutathione (GSH) to electrophilic chemicals. In most animals and in humans, GSTs are the principal enzymes responsible for detoxifying the mycotoxin aflatoxin B 1 (AFB 1 ) and GST dysfunction is a known risk factor for susceptibility towards AFB 1...
Pericarpium Citri Reticulatae and Citri Unshius Pericarpium are important Oriental medicinal materials used in many prescriptions. Among the Citrus species, the dried peels of C. japonica, C. maxima, and C. trifoliata are found to be adulterants and substitutes of Pericarpium Citri Reticulatae and Citri Unshius Pericarpium. In order to develop a simple and reliable DNA method for authentication of...
rs2943634 C/A single nucleotide polymorphism (SNP), located in a non coding region of chromosome 2q36.3, has been associated with coronary artery disease in two genome wide association studies. Our goal was to investigate its relation with myocardial infarction (MI) and ischemic stroke (IS), as well as with 12 intermediate risk phenotypes, in a population-based prospective cohort study.rs2943634 was...
Antizyme 1 (AZ1) is a member of the antizyme family that is involved in many biological processes. As a natural inhibitor, AZ1 controls the normal level of polyamines, which is indispensable to cellular function. Our prior research showed that the expression of the AZ1 gene in Longissimus doris of Landrace pigs was higher (P<0.05) than in Lantang pigs. The AZ1 gene might be involved in the development...
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