Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy. As the size of the GAA repeat is limited to 11-33 within the general population our findings may provide a novel insight towards a Trinucleotide Repeat Expansion. Whether this TNR has an impact on the reported phenotype remains to be resolved.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.mcp.2016.07.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Article Synopsis
- Microsatellites, or simple sequence repeats (SSRs), are abundant in reptile genomes, with their analysis revealing a wide range of SSR counts across 36 species, making up 2.16%-8.19% of their genome sizes.
- The study found a trend where imperfect SSRs were more common than perfect or compound SSRs, and while the total number of SSRs positively correlated with genome size, their frequency and density showed negative correlations.
- Different reptile groups showed varying patterns in the distribution of SSR types, with specific repeats predominant in certain species, and the results indicate that genes with perfect SSRs are mainly involved in transcription and translation regulation, highlighting the need for further evolutionary analysis.
On the specificity of the recognition of m6A-RNA by YTH reader domains.
J Biol Chem
November 2024
Department of Biochemistry, University of Zurich, Zurich, Switzerland.
Most processes of life are the result of polyvalent interactions between macromolecules, often of heterogeneous types and sizes. Frequently, the times associated with these interactions are prohibitively long for interrogation using atomistic simulations. Here, we study the recognition of N6-methylated adenine (mA) in RNA by the reader domain YTHDC1, a prototypical, cognate pair that challenges simulations through its composition and required timescales.
View Article and Find Full Text PDF[Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Article Synopsis
- * Researchers performed several genetic tests to analyze the FMR1 gene, focusing on CGG repeat numbers and methylation status among family members.
- * Results showed that the index patient and her elder sister both had full mutations and hypermethylation of the FMR1 gene, while their mother exhibited a premutation, highlighting the method's effectiveness for diagnosing FXS in females.
Accelerated Simulations Reveal Physicochemical Factors Governing Stability and Composition of RNA Clusters.
J Chem Theory Comput
November 2024
Department of Chemical and Biological Engineering, Princeton University, Princeton, New Jersey 08544, United States.
Under certain conditions, RNA repeat sequences phase separate, yielding protein-free biomolecular condensates. Importantly, RNA repeat sequences have also been implicated in neurological disorders, such as Huntington's disease. Thus, mapping repeat sequences to their phase behavior, functions, and dysfunctions is an active area of research.
View Article and Find Full Text PDFStructural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases.
Biomolecules
October 2024
Department of Physics, North Carolina State University, Raleigh, NC 27695, USA.
Dynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders-known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)-which arise when the repeat number of triplets expands beyond a critical threshold. While the mechanisms causing the DNA triplet expansion are complex and remain largely unknown, it is now recognized that the expandable repeats lead to the formation of nucleotide configurations with atypical structural characteristics that play a crucial role in TREDs. These nonstandard nucleic acid forms include single-stranded hairpins, Z-DNA, triplex structures, G-quartets and slipped-stranded duplexes.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!