Intronic variants of MITF (rs7623610) and CREB1 (rs10932201) genes may enhance splicing efficiency in human melanoma cell line

Carron, Juliana; Torricelli, Caroline; Silva, Janet Keller; Coser, Lilian de Oliveira; Lima, Carmen Sílvia Passos; Lourenço, Gustavo Jacob

doi:10.1016/j.mrfmmm.2021.111763

Cited by 2 publications

(2 citation statements)

References 22 publications

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“…Consequently, this disease is complex and multifactorial [ 2 ]. Environmental factors, such as skin exposure to ultraviolet (UV) radiation from sunlight and other sources [ 3 ], and genetic factors, including inherited mutations in cyclin-dependent kinase inhibitor 2A ( CDKN2A ), cyclin-dependent kinase 4 ( CDK4 ), xeroderma pigmentosum ( XP ), and melanocortin 1 receptor ( MC1R ) [ 2 , 4 ], are frequently identified as factors related to CM. Moreover, CM is one of the most immunogenic types of solid tumors, eliciting an active antitumor response [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

Carvalho,

Gomez,

Carron

et al. 2024

IJMS

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Regulatory T lymphocytes play a critical role in immune regulation and are involved in the aberrant cell elimination by facilitating tumor necrosis factor connection to the TNFR2 receptor, encoded by the TNFRSF1B polymorphic gene. We aimed to examine the effects of single nucleotide variants TNFRSF1B c.587T>G, c.*188A>G, c.*215C>T, and c.*922C>T on the clinicopathological characteristics and survival of cutaneous melanoma (CM) patients. Patients were genotyped using RT-PCR. TNFRSF1B levels were measured using qPCR. Luciferase reporter assay evaluated the interaction of miR-96 and miR-1271 with the 3′-UTR of TNFRSF1B. The c.587TT genotype was more common in patients younger than 54 years old than in older patients. Patients with c.*922CT or TT, c.587TG or GG + c.*922CT or TT genotypes, as well as those with the haplotype TATT, presented a higher risk of tumor progression and death due to the disease effects. Individuals with the c.*922TT genotype had a higher TNFRSF1B expression than those with the CC genotype. miR-1271 had less efficient binding with the 3′-UTR of the T allele when compared with the C allele of the SNV c.*922C>T. Our findings, for the first time, demonstrate that TNFRSF1B c.587T>G and c.*922C>T variants can serve as independent prognostic factors in CM patients.

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Section: Introductionmentioning

confidence: 99%

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

Carvalho,

Gomez,

Carron

et al. 2024

IJMS

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“…Thus, to effectively express foreign genes at high levels, it is necessary first to develop an optimal promoter (Wang et al 2017;Dou et al 2021;Grose et al 2021). In addition to an optimal promotor, noncoding enhancer sequences such as introns can boost transcript levels by influencing transcription rates, nuclear mRNA export, transcript stability, translational efficiency, and mRNA degradation, a phenomenon called Intron-Mediated Enhancement (IME) (Carron et al 2021). Many commercial vectors include heterologous introns, which are known to dramatically increase exogenous gene expression depending on the gene type and cell line (Samadder et al 2008;Bartlett et al 2009;Gallegos and Rose 2015;Laxa 2017).…”

Section: Introductionmentioning

confidence: 99%

Effect of human β-Globin second intron on transient gene expression in mammalian cell lines

Vijayakumar,

Hameed,

Harshavardhan

2023

J Exp Bio & Ag Sci

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Exogenous protein expression in mammalian cells is necessary to produce therapeutic proteins and modern medical applications like developing DNA vaccines and gene therapy. This study examines the human-Globin (hBG) second intron's capacity for intron-mediated enhancement (IME) in various mammalian cell lines. Our study's main aim is to investigate the effect of the incorporation and arrangement of the second intron of the human Beta-globin gene into the pVAX-1 expression cassette on improving the expression of foreign genes. Two plasmids were constructed, one with the hBG second intron positioned upstream and the other downstream in the expression cassette. EGFP expression was evaluated at the mRNA and protein levels after transfection using Lipofectamine 2000 using One-way ANOVA analysis. Results showed that the pVAX-1 harbouring the hBG second intron did not lead to enhanced transient EGFP expression and did not exhibit Intron Mediated Enhancement (IME) in tested mammalian cell lines. Further investigations are necessary to understand factors contributing to the lack of enhancement and explore alternative intron options for optimizing foreign gene expression in cell lines.

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Intronic variants of MITF (rs7623610) and CREB1 (rs10932201) genes may enhance splicing efficiency in human melanoma cell line

Cited by 2 publications

References 22 publications

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

TNFRSF1B Gene Variants in Clinicopathological Aspects and Prognosis of Patients with Cutaneous Melanoma

Effect of human β-Globin second intron on transient gene expression in mammalian cell lines

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