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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.3K
RNA Splicing01:32

RNA Splicing

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20.0K
Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

8.4K
In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
8.4K
RNA Editing02:23

RNA Editing

10.1K
RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
10.1K
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

10.1K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
10.1K
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  3. Research Domains
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  7. Oncology And Carcinogenesis
  9. Predictive And Prognostic Markers
  11. Modulation Of Lmna Splicing As A Strategy To Treat Prelamin A Diseases.
  1. Home
  3. Research Domains
  5. Biomedical And Clinical Sciences
  7. Oncology And Carcinogenesis
  9. Predictive And Prognostic Markers
  11. Modulation Of Lmna Splicing As A Strategy To Treat Prelamin A Diseases.

Related Experiment Video

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

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Modulation of LMNA splicing as a strategy to treat prelamin A diseases.

John M Lee, Chika Nobumori, Yiping Tu

    The Journal of Clinical Investigation
    |March 22, 2016

    View abstract on PubMed

    Summary
    This summary is machine-generated.

    This study shows an exon 11 antisense oligonucleotide (ASO) can reduce prelamin A and its disease-associated mutant, progerin. This approach offers a potential therapeutic strategy for Hutchinson-Gilford progeria syndrome (HGPS) and other prelamin A-specific diseases.

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    Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
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    Area of Science:

    • Molecular Biology
    • Genetics
    • Biochemistry

    Background:

    • LMNA gene produces lamin C and prelamin A, often with redundant functions.
    • Hutchinson-Gilford progeria syndrome (HGPS) arises from prelamin A mutations, suggesting therapeutic benefit from shifting LMNA splicing towards lamin C.

    Purpose of the Study:

    • Investigate LMNA mRNA alternative splicing regulation.
    • Assess the feasibility of in vivo prelamin A expression reduction.

    Main Methods:

    • Utilized an exon 11 antisense oligonucleotide (ASO) in mouse and human fibroblasts.
    • Performed SRSF2 knockdown studies in cellular and murine models.
    • Administered ASO in wild-type and HGPS mouse models.

    Main Results:

    • Exon 11 ASO increased lamin C production while decreasing prelamin A in fibroblasts.
    • ASO reduced progerin expression in HGPS patient-derived fibroblasts.
    • ASO administration lowered lamin A in wild-type mice and progerin in HGPS mice.

    Conclusions:

    • ASO-mediated reduction of prelamin A is a viable strategy for treating prelamin A-specific diseases.
    • Identified SRSF2 as a key regulator of LMNA splicing, targeted by the exon 11 ASO.