NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (<i>A</i>ATAAA →<i>G</i>ATAAA)]

Waye, John S.; Patterson, Michael M.; Reis, Marciano D.; Macdonald, Denis; Chui, David H.K.

doi:10.1081/hem-100103075

Cited by 10 publications

(3 citation statements)

References 5 publications

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“…GVs can alter the structure of RNA or proteins, leading to abnormalities in biological function or even disease. Some studies found that the molecular mechanism of some typical diseases was closely related to the structural effects of GV, such as hypertension [80,81], Retinoblastoma [82,83], β Thalassemia [84][85][86][87][88][89], and so on.…”

Section: The Impact Of Genetic Variation On Rna and Protein Structure...mentioning

confidence: 99%

Effects of genetic variation on the structure of RNA and protein

Kang,

Wei,

Jia

et al. 2024

Proteomics

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Changes in the structure of RNA and protein, have an important impact on biological functions and are even important determinants of disease pathogenesis and treatment. Some genetic variations, including copy number variation, single nucleotide variation, and so on, can lead to changes in biological function and increased susceptibility to certain diseases by changing the structure of RNA or protein. With the development of structural biology and sequencing technology, a large amount of RNA and protein structure data and genetic variation data resources has emerged to be used to explain biological processes. Here, we reviewed the effects of genetic variation on the structure of RNAs and proteins, and investigated their impact on several diseases. An online resource (http://www.onethird‐lab.com/gems/) to support convenient retrieval of common tools is also built. Finally, the challenges and future development of the effects of genetic variation on RNA and protein were discussed.

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Section: The Impact Of Genetic Variation On Rna and Protein Structure...mentioning

confidence: 99%

Effects of genetic variation on the structure of RNA and protein

Kang,

Wei,

Jia

et al. 2024

Proteomics

View full text Add to dashboard Cite

show abstract

“…Genetic variations can alter the structure of RNA or proteins, leading to abnormalities in biological function or even disease. Some studies found that the molecular mechanism of some typical diseases was closely related to the structural effects of genetic variation, such as hypertension [81,82], Retinoblastoma [83,84], β Thalassemia [85][86][87][88][89][90], and so on.…”

Section: The Impact Of Genetic Variation On Macromolecular Structure ...mentioning

confidence: 99%

Effects of genetic variation on the structure of biological macromolecules

Kang

Wei

Jia

et al. 2023

Preprint

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Changes in the structure of biological macromolecules, such as RNA and protein, have an important impact on biological functions, and are even important determinants of disease pathogenesis and treatment. Some genetic variations, including copy number variation, single nucleotide variation, and so on, can lead to changes in biological function and increased susceptibility to certain diseases by changing the structure of biological macromolecules. Here, we reviewed the progress of research about the effects of genetic variation on the structure of macromolecules including RNAs and proteins, several typical methods and common tools, and the effect on several diseases. An online resource (http://www.onethird-lab.com/gems/) to support convenient retrieval of common tools is also built. Finally, the challenges and future development of effect prediction were discussed.

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“…In a similar manner, mutations in the canonical PAS of HBB hemoglobin subunit beta (HBB) were also found to result in very low expression levels and to produce extended transcripts [ 183 ]. As with HBA2, further HBB PAS mutations were identified, resulting in mild β-thalassaemia [ 184 , 234 , 235 , 236 , 237 , 238 , 239 , 240 , 241 , 242 ].…”

Section: The Role Of Cleavage and Polyadenylation In Diseasementioning

confidence: 99%

Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

2020

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A crucial feature of gene expression involves RNA processing to produce 3′ ends through a process termed 3′ end cleavage and polyadenylation (CPA). This ensures the nascent RNA molecule can exit the nucleus and be translated to ultimately give rise to a protein which can execute a function. Further, alternative polyadenylation (APA) can produce distinct transcript isoforms, profoundly expanding the complexity of the transcriptome. CPA is carried out by multi-component protein complexes interacting with multiple RNA motifs and is tightly coupled to transcription, other steps of RNA processing, and even epigenetic modifications. CPA and APA contribute to the maintenance of a multitude of diverse physiological processes. It is therefore not surprising that disruptions of CPA and APA can lead to devastating disorders. Here, we review potential CPA and APA mechanisms involving both loss and gain of function that can have tremendous impacts on health and disease. Ultimately we highlight the emerging diagnostic and therapeutic potential CPA and APA offer.

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NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]

Cited by 10 publications

References 5 publications

Effects of genetic variation on the structure of RNA and protein

Effects of genetic variation on the structure of RNA and protein

Effects of genetic variation on the structure of biological macromolecules

Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

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