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Abstract

July - September 2024 | Vol. 17 | Issue 3 | 15-24
Spliceosome Variants: Insights into Disease Pathology, Current Detection Techniques, and Clinical Implications in Genetic Diseases
Prince Jacob1#, Keerthana Kumari S1, Rachanashree HN1, Akila Prashant1,2, Siddaramappa J Patil3#
1Department of Medical Genetics, JSS Medical College, and JSS Hospital, JSS Academy of Higher Education and Research, Mysore, Karnataka, India 2Department of Biochemistry, JSS Medical College, and JSS Hospital, JSS Academy of Higher Education and Research, Mysore, Karnataka, India 3Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India
Address for Correspondence Email: drsjpatil@gmail.com and princejacob@jssuni.edu.in
 
Abstract
The mechanism involved in pre-mRNA splicing represents a vital stage in eukaryotic gene expression, ensuring the precise excision of introns and the joining of exons to yield mature mRNA transcripts. Deviations in this process, often instigated by spliceosome variants, can result in irregular splicing patterns which impact gene function, and thus contribute to the development of various human diseases. This review examines the diverse forms of spliceosome variants and their implications in disease pathology, encompassing variants at donor and acceptor splice sites, deep intronic variants, exonic variants affecting splicing, and alterations in branch points. The array of methodologies, including bioinformatics tools, experimental procedures, and functional assays, utilized for the detection of spliceosome variants and the elucidation of their functional impacts, is discussed. A few variants identified at our centre in patients with different genetic disorders with a confirmed molecular diagnosis are enumerated in this study. Furthermore, the clinical significance of spliceosome variant detection in disease diagnosis, prognosis, and treatment is underscored in this study, emphasizing the potential of personalized medicine strategies. Finally, future avenues of research in spliceosome variant investigations are outlined, which underscores the necessity of interdisciplinary approaches and collaborative endeavors in advancing precision medicine and healthcare.
 
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