Almost all our genes undergo RNA splicing. However, new-born babies who have genetic mutations in the splicing machinery present structural defects only in specific tissues, while other tissues are kept intact. It appears that bones and retina are especially susceptible to spliceosomal defects. Furthermore, specific bones are affected in skeletal dysplasia of spliceosomal syndromes, depending on the mutated spliceosomal genes. In the last decade, several congenital syndromes have been identified as spliceosomal syndromes.
These syndromes are either autosomal dominant or de novo mutations. The phenotype severity varies between individual patients, and non-penetrance is also reported. These findings suggest that multiple factors are involved in addition to the mutation of primarily responsible gene in the phenotype presentation.
With this Research Topic, we aim to address the following questions, that would lead the way to identification of therapeutic targets in the future. These questions include:
1. "What is the underlying mechanism behind the tissue-specificity observed in the manifestation of phenotypes in spliceosomal syndromes?" By delving into this question, we aim to unravel the factors that contribute to why certain spliceosomal syndromes exhibit distinct phenotypes in specific tissues. Understanding the mechanism behind tissue-specificity can provide valuable insights into the biological processes at play and potentially uncover novel targets for therapeutic interventions.
2. "Which genes' splicing is affected and directly responsible for the phenotype associated with spliceosomal defects?" Investigating the specific genes whose splicing is compromised in spliceosomal defects is crucial to understanding the molecular basis of these disorders. Identifying the genes directly responsible for the observed phenotypes can shed light on the pathways and processes affected by splicing abnormalities. This knowledge can guide the development of targeted therapies aimed at correcting or mitigating the impact of these splicing defects.
In this Research Topic, we are inviting articles with the following themes:
• Analysis of spliceosomal defects in vitro
• Analysis using model animals
• Studies for the molecular mechanisms using clinical samples
• Transcriptomic analysis
• Other approaches for the molecular mechanism of spliceosomal syndromes
A full list of accepted article types, including descriptions, can be found at this link.
Please note: Descriptive studies and studies consisting solely of bioinformatic investigation of publicly available genomic / transcriptomic data do not fall within the scope of the journal unless they are expanded and provide significant biological or mechanistic insight into the process being studied. Quantitative analysis must be performed on a minimum number of 3 biological replicates in order to enable an assessment of significance.
Keywords:
Spliceosomal Syndrome, Splicing Abnormalities, Spliceosomal Defects, Splicing Defects, Transcriptomic Analysis
Important Note:
All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
Almost all our genes undergo RNA splicing. However, new-born babies who have genetic mutations in the splicing machinery present structural defects only in specific tissues, while other tissues are kept intact. It appears that bones and retina are especially susceptible to spliceosomal defects. Furthermore, specific bones are affected in skeletal dysplasia of spliceosomal syndromes, depending on the mutated spliceosomal genes. In the last decade, several congenital syndromes have been identified as spliceosomal syndromes.
These syndromes are either autosomal dominant or de novo mutations. The phenotype severity varies between individual patients, and non-penetrance is also reported. These findings suggest that multiple factors are involved in addition to the mutation of primarily responsible gene in the phenotype presentation.
With this Research Topic, we aim to address the following questions, that would lead the way to identification of therapeutic targets in the future. These questions include:
1. "What is the underlying mechanism behind the tissue-specificity observed in the manifestation of phenotypes in spliceosomal syndromes?" By delving into this question, we aim to unravel the factors that contribute to why certain spliceosomal syndromes exhibit distinct phenotypes in specific tissues. Understanding the mechanism behind tissue-specificity can provide valuable insights into the biological processes at play and potentially uncover novel targets for therapeutic interventions.
2. "Which genes' splicing is affected and directly responsible for the phenotype associated with spliceosomal defects?" Investigating the specific genes whose splicing is compromised in spliceosomal defects is crucial to understanding the molecular basis of these disorders. Identifying the genes directly responsible for the observed phenotypes can shed light on the pathways and processes affected by splicing abnormalities. This knowledge can guide the development of targeted therapies aimed at correcting or mitigating the impact of these splicing defects.
In this Research Topic, we are inviting articles with the following themes:
• Analysis of spliceosomal defects in vitro
• Analysis using model animals
• Studies for the molecular mechanisms using clinical samples
• Transcriptomic analysis
• Other approaches for the molecular mechanism of spliceosomal syndromes
A full list of accepted article types, including descriptions, can be found at this
link.
Please note: Descriptive studies and studies consisting solely of bioinformatic investigation of publicly available genomic / transcriptomic data do not fall within the scope of the journal unless they are expanded and provide significant biological or mechanistic insight into the process being studied. Quantitative analysis must be performed on a minimum number of 3 biological replicates in order to enable an assessment of significance.
Keywords:
Spliceosomal Syndrome, Splicing Abnormalities, Spliceosomal Defects, Splicing Defects, Transcriptomic Analysis
Important Note:
All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.