circRNA basic information
circBase ID: hsa_circ_0005660
Name: hsa_circ_NFIX
Synonym: circNFIX
Host Gene: NFIX
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: nucleus and cytoplasm
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0006497
MONDO name: cerebral palsy
Disease details: cerebral palsy / CP
Disease DO ID:
1969
Disease MeSH ID:
D002547
Disease NCIt ID:
C34460
Disease ICD11 ID:
76906748
Disease OMIM ID:
-
Species: Human
Species details: Homo sapiens
Tissue specimen:

skeletal muscle biopsies; skeletal muscle tissue

Cell lines:

SC-MBs; SC-MTs; HEK-293T

In vivo animal model:

-

circRNA-disease information
Expression pattern:
DN
Associated gene: MEF2C
Associated microRNA: miR-373-3p
Biological function: maintains myogenic capacity and supports myoblast fusion/myotube formation; derepresses MEF2C translation and supports sarcomere gene expression
Molecular mechanism: Acts as a competing endogenous RNA (miRNA sponge) for miR-373-3p, relieving translational repression of MEF2C; reduced circNFIX in CP increases miR-373-3p availability and lowers MEF2C protein, leading to downregulation of sarcomere genes
Biological pathway or process:

ceRNA regulation (promotes); proliferation (other); other pathway/process (other)

Detected method:
Q
Validation methods:

divergent primers PCR; Back-Splice Junction PCR; Sanger Sequencing; RNase R Treatment; RT-qPCR; FISH / smFISH; Nuclear-Cytoplasmic Fractionation; Luciferase Reporter Assay; Bioinformatics Analysis; Transfection; In Vivo Animal Model; IF (Immunofluorescence); Western Blot; Digital PCR

Clinical significance:

suggesting circNFIX as a potential therapeutic target and biomarker for early CP diagnosis

Description:

In spastic cerebral palsy, circNFIX is down-regulated in muscle satellite cell-derived myoblasts/myotubes and skeletal muscle tissue, and shows increased nuclear localization. circNFIX functions as a ceRNA that sponges miR-373-3p to relieve translational repression of MEF2C, supporting MEF2C protein and sarcomere gene expression; circNFIX knockdown phenocopies CP by reducing MEF2C and myogenic fusion capacity.

Confidence score:

0.7656

Other information
Title:

The circular RNA circNFIX regulates MEF2C expression in muscle satellite cells in spastic cerebral palsy.

Journal: The Journal of biological chemistry
Published: 2024
PubMed ID: 39542245
Study type:

combined biological and clinical study

Data availability: The sequences of all the probes and primers used in the study are provided in the supplementary materials.
Code availability: The custom-written algorithms for image analysis in MATLAB can be made available upon a direct request to the corresponding author.