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MicroRNAs

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...

MicroRNAs

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...

MicroRNAs

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 Decay

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,...

Nonsense-mediated mRNA Decay

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,...

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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...

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Related Experiment Video

Updated: Jun 21, 2026

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells

Published on: June 16, 2022

SNPs in human miRNA genes affect biogenesis and function.

Guihua Sun¹, Jin Yan, Katie Noltner

¹Department of Molecular Biology, City of Hope National Medical Center, Duarte, California 91010, USA.

RNA (New York, N.Y.)

|July 21, 2009

Summary

This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) can alter their processing and function. These X-linked miRNA variants may play a role in the development of diseases like Schizophrenia and Autism.

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Area of Science:

Genetics
Molecular Biology
Neuroscience

Background:

MicroRNAs (miRNAs) are key regulators of gene expression involved in translational control.
miRNA biogenesis involves sequential processing by Drosha/DGCR8 and Dicer/TRBP complexes.
Sequence variations in miRNAs can impact their processing and function, potentially affecting disease etiology.

Purpose of the Study:

To investigate the impact of single nucleotide polymorphisms (SNPs) on the biogenesis and function of X-linked microRNAs.
To explore the role of miRNA variants in the context of Schizophrenia and Autism.

Main Methods:

Identification of at least 24 human X-linked miRNA variants.
Development and application of functional assays to assess miRNA processing and function.
Analysis of the effects of naturally occurring SNPs on miRNA maturation and target recognition.

Main Results:

Naturally occurring SNPs can significantly impair or enhance miRNA processing.
SNPs can alter the specific sites of miRNA processing.
Single base changes can modify miRNA biological function and potentially lead to new miRNA evolution.

Conclusions:

X-linked miRNA variants, influenced by SNPs, can affect miRNA processing and function.
These variations may contribute to the genetic basis of complex neurological disorders such as Schizophrenia and Autism.
Mutant alleles in X-linked miRNAs could be significant determinants in disease etiology.