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The Acute Phase Complement Proteins
Published in Andrzej Mackiewicz, Irving Kushner, Heinz Baumann, Acute Phase Proteins, 2020
These observations and the detailed studies of cis-acting elements essential for the IFN response raise several interesting general questions about regulated gene expression. An IFN response element has been identified in sequence analyses of human and murine DNA in the intergenic region between C2 and factor B. Moreover, this element serves as a true enhancer (orientation and position independent) in functional studies of a chimeric gene construct with CAT as the reporter element.41,78,97 Uncertainty remains about the 5′ boundary of the C2 gene, but thus far an IFN response element has not been recognized 5′ to the C2 gene within a cosmid containing ~2 kb of sequences upstream of the C2 coding region. L- cells transfected with this cosmid express C2, and its expression is increased by IFN. Taken together, these data suggest the possibility that the same IFN response element is functional for regulating C2 and Bf expression. IL-1/IL-6 response elements are within the 3′ untranslated region of the C2 gene, perhaps accounting for the effect of these cytokines on Bf, not on C2.
Regulation of the Pituitary Gland by Dopamine
Published in Nira Ben-Jonathan, Dopamine, 2020
Each of the OT and AVP genes contains three exons and two introns. Both genes are located on the same chromosomal locus (chromosome 2 in mice and chromosome 20 in humans) but are transcribed in the opposite directions [8]. The domain which separates the OT and VP genes is relatively short and is called the “intergenic region” (IGR). The IGR in the rat and human is about 10–11 kbp in length, whereas that in the mouse is only 3.6 kbp. More than half of the rat IGR is represented by a long interspersed repeated DNA element that is completely missing in the mouse and human IGRs. The high sequence conservation found both upstream and downstream of these genes suggests that these domains contain regulatory DNA sequences.
Translation
Published in Paul Pumpens, Single-Stranded RNA Phages, 2020
Furthermore, van Himbergen et al. (1993) narrowed by deletion studies the region in the coat gene over which ribosomes should pass to activate the replicase start from initial 132 nucleotides to the only 6 base pairs as the basis of the translational polarity. The 3′ side of the complementarity region was in the coat-replicase intergenic region, some 20 nucleotides before the start codon of the replicase. The 5′ side encoded amino acids 31 and 32 of the coat protein. Mutations that disrupted the long-range interaction abolished the translational coupling, while repair of the base pairing by second-site base substitutions restored translational coupling (van Himbergen et al. 1993).
FAM26F: An Enigmatic Protein Having a Complex Role in the Immune System
Published in International Reviews of Immunology, 2023
In an extensive eQTL study, the locus rs2858829 was found to be highly significant regarding the cis-regulation of FAM26F gene expression [30]. In 2014, this locus was reported to correspond to an intergenic region at 6q22.1 [31]. In humans polymorphisms identified close to the promotor region of FAM26F are probably linked to basal expression differences and can bear susceptibility to ulcerative colitis (UC). Hence, the expression of FAM26F was further examined in openly accessible microarray studies involving UC and it was found to be consistently and significantly upregulated in colonic mucosa from UC samples having active inflammation [31]. Furthermore, overlapping studies in UC colonic mucosa between FAM26F gene expression networks in human and mouse revealed 28 mutual genes, 20 of which possess ‘immune response’ ontology as the most knowingly overrepresented biological process. These genes include Tumor Necrosis Factor pathway associated proteins (CD40 and TNFSF13B), genes that encode for chemokines (CXCL9 and CXCL10) as well as genes linked to immune cell signaling (PTPRC, LCP1, LYN, SLAMF8, LAIR1, CIITA, GIMAP4, CD84 and CD300A) [31].
Significance of the coexistence of non-codon 315 katG, inhA, and oxyR-ahpC intergenic gene mutations among isoniazid-resistant and multidrug-resistant isolates of Mycobacterium tuberculosis: a report of novel mutations
Published in Pathogens and Global Health, 2022
Fatemeh Norouzi, Sharareh Moghim, ShimaSadat Farzaneh, Hossein Fazeli, Mahshid Salehi, Bahram Nasr Esfahani
In this study, we found a katG L587P mutation in one of the MDR isolates. The coexistence of mutations (59.1%), including katG Arg463Leu and oxyR-ahpC intergenic region mutations, was also observed. Generally, the most common inhA mutation has been found at −15 promoter region (19.2%) [11]. Mutations at position −15 of inhA gene were reported in a previous study (30.4%). However, none of the isolates showed the coexistence of two mutations (katG315 or katG300 or katG340 with inhA mutation at position −15) [15], similar to our results, which did not indicate the coexistence of katG-non-codon 315 mutations with inhA mutations. Conversely, in another study, the prevalence rate of coexisting mutations was 8.9% [31]. In the present study, a novel silent synonymous substitution (L649L) was seen at nucleotide 649 in the inhA gene in one of the MDR isolates.
Genome-wide association studies of stress score in a Korean Cohort
Published in Stress, 2021
Among the SNPs detected for GenST risk, the SNP with a nearby functional gene was rs9353437 and was located in the EYS gene. The EYS gene contains multiple epidermal growth factor-like domains and is expressed in the photoreceptors of the retina (Abd El-Aziz et al., 2008). The gene is known for its function in visual perception (Abd El-Aziz et al., 2008) and skeletal muscle tissue regeneration (Isackson et al., 2011). The genetic region has been linked to experiencing mood swings (Nagel et al., 2018) and schizophrenia (Lam et al., 2019) in other studies, suggesting a link to mental health. In relevance to stress, it can be inferred that the functions of the gene may be attributed to overall stress along with an increase in visual stress. The remaining two SNPs detected for GenST are located in an intergenic region, where their functional relationship with stress is difficult to elucidate.