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Related Concept Videos

MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
RNA Editing02:23

RNA Editing

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...
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
RNA Splicing01:32

RNA Splicing

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...

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CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis
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RNase MRP and disease.

Sandy Mattijssen1, Tim J M Welting, Ger J M Pruijn

  • 1Department of Biomolecular Chemistry, Nijmegen Center for Molecular Life Sciences, Institute for Molecules and Materials, Radboud University Nijmegen, The Netherlands.

Wiley Interdisciplinary Reviews. RNA
|September 30, 2011
PubMed
Summary
This summary is machine-generated.

RNase MRP, a crucial enzyme, is implicated in autoimmune diseases and genetic disorders. Mutations in its RNA gene cause cartilage-hair hypoplasia (CHH), a condition affecting growth and immunity.

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Kinetic Screening of Nuclease Activity using Nucleic Acid Probes

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Area of Science:

  • Molecular Biology
  • Immunology
  • Genetics

Background:

  • RNase MRP is a eukaryotic endoribonuclease with catalytic RNA and protein components.
  • It specifically cleaves various RNA types, including ribosomal, messenger, and mitochondrial RNAs.
  • Autoantibodies targeting RNase MRP (anti-Th/To) are found in autoimmune diseases like scleroderma.

Purpose of the Study:

  • To review the biochemical functions of RNase MRP.
  • To discuss the role of RNase MRP targeting in autoimmunity.
  • To explore the impact of RNase MRP RNA gene mutations in cartilage-hair hypoplasia (CHH).

Main Methods:

  • Literature review of RNase MRP's biochemical properties.
  • Analysis of studies on anti-Th/To autoantibodies in autoimmune diseases.
  • Examination of genetic studies linking RNase MRP RNA mutations to CHH.

Main Results:

  • RNase MRP mutations are the cause of the pleiotropic disease cartilage-hair hypoplasia (CHH).
  • CHH patients exhibit short stature, hypoplastic hair, short limbs, cancer predisposition, and defective T-cell immunity.
  • Mutations affect RNase MRP RNA structure or promoter regions, reducing expression.

Conclusions:

  • RNase MRP plays a significant role in both autoimmune responses and genetic diseases.
  • Further research is needed to determine if anti-Th/To autoantibodies contribute to disease pathophysiology.
  • Understanding RNase MRP's function is critical for diagnosing and potentially treating CHH and related autoimmune conditions.