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  • 1
    Keywords: Human Genetics ; Oncology ; Medicine ; Nucleic Acids ; Human Genetics ; Cancer Research ; Molecular Medicine ; Nucleic Acid Chemistry ; Springer eBooks
    Description / Table of Contents: Prelims -- Networks of mRNA processing and alternative splicing regulation in health and disease -- The diverse roles of RNA-binding proteins in glioma development -- Nonsense-mediated mRNA decay in development, stress and cancer -- Implication of mRNA degradation disorders on human DISease: focus on DIS3 and DIS3-like enzymes -- Translational regulation by upstream open reading frames and human diseases -- Alternative mechanisms of mRNA translation initiation in cellular stress response and cancer -- RNA therapeutics: how far have we gone? Index
    Abstract: The eukaryotic gene expression pathway involves a number of interlinked steps, with messenger RNA (mRNA) being the key intermediate. The precursor mRNA is transcribed from DNA, processed by removal of introns and addition of the cap structure and the poly(A) tail. The mature mRNA is then exported to the cytoplasm where it is translated into protein and finally degraded. In this process, mRNA is associated with RNA-binding proteins forming ribonucleoprotein complexes, whose protein content evolves throughout the lifetime of the mRNA. While the complexity of eukaryotic gene expression allows the production of proteins to be controlled at many levels, it also makes the process vulnerable to errors. Although eukaryotic cells have evolved elaborate mRNA quality control mechanisms that ensure the fidelity of gene expression, some defects are not detected, thus affecting mRNA metabolism. This condition plays a fundamental role in the pathogenesis of several disease processes, such as neurodegeneration and oncogenesis. Besides, exciting recent data have shown that cellular RNAs can be modified post-transcriptionally via dynamic and reversible chemical modifications, the so-called epitranscriptome. These modifications can alter mRNA structure, being able to modulate different steps of the mRNA metabolism that can be associated with various human diseases, such as systemic lupus erythematosus and cancer. This book provides a collection of novel studies and hypotheses aimed to define the pathophysiological consequences of altered mRNA metabolism events in human cells, and is written for a wide spectrum of readers in the field of gene expression regulation. The last chapter highlights how the discovery of disease-causing defects (or modifications) in mRNA can provide a variety of therapeutic targets that can be used for the development of new RNA-based therapeutics. Hopefully, it may also contribute to inspire the drug-developing scientific community
    Pages: IX, 180 p. 18 illus., 17 illus. in color. : online resource.
    Edition: 1st ed. 2019.
    ISBN: 9783030199661
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The high level expression of the human α globin genes in erythroid tissue appears to require a set of DNaseI hypersensitive sites located upstream of the human α-globin gene cluster. These sequences, termed the locus control region (LCR), include two erythroid specific and a number of less restricted DNaseI hypersensitive sites. In this report we describe an individual with α-thalassemia associated with a truncation of the short arm of chromosome 16 that removes the LCR region and inactivates the adjacent intact α-globin genes. This genetic study supports the critical role of the LCR in the transcriptional activation of the human α-globin gene cluster and substantiates the importance of LCR deletions in the etiology of α-thalassemia.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In order to delineate the spectrum and the relative abundance of β-globin gene defects causing thalassaemia in the Portuguese population, a representative sample was analysed including 51 β-thalassaemia carriers along with 26 patients representing different clinical phenotypes. Seven mutations were identified, four of which [codon 39 (C→T), 39%; intervening sequence (IVS)1 nucleotide (nt) 1 (G→A), 26%; IVS1 nt 110 (G→A), 17%; IVS1 nt6 (T→C), 15%] account for 97% of 93 β-thalassaemia chromosomes. Two previously undescribed mutations, namely a C→T substitution at position — 90 in the proximal CACCC box, and the deletion of nucleotides 4 and 5 (AG) in IVS 2 were identified. The uncommon, though ubiquitous, G→T transversion at codon 121 was found once upon haplotype V. Direct prenatal diagnosis can be offered to 95% of couples at risk of bearing a thalassaemic child.
    Type of Medium: Electronic Resource
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