circRNA basic information
circBase ID: -
Name: mmu_circ_Gigyf2
Synonym: circGigyf2
Host Gene: Gigyf2 / GIGYF2
Genomic location(hg19): chr2:233612324-233626146:+
Genomic location(hg38): chr2:232747614-232761436:+
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0004975
MONDO name: Alzheimer disease
Disease details: Alzheimer's disease / AD
Disease DO ID:
10652
Disease MeSH ID:
D000544
Disease NCIt ID:
C2866
Disease ICD11 ID:
1611724421
Disease OMIM ID:
-
Species: Mouse
Species details: Mus musculus
Tissue specimen:

cerebral cortex; hippocampus; postmortem subcortical areas (BM10; BM22; BM36; BM44)

Cell lines:

CAD (Cath.-a-differentiated); Neuro-2a (N2a)

In vivo animal model:

genetically engineered animal model

circRNA-disease information
Expression pattern:
DN
Associated gene: CPSF6
Associated microRNA: miR-17-5p, miR-93-5p
Biological function: sponges AD-relevant miRNAs and sequesters AD-associated RBP CPSF6; circGigyf2 deficiency potentiates neuronal apoptotic responses upon insults
Molecular mechanism: ceRNA-like miRNA sponging (miR-17-5p/miR-93-5p) increasing their silencing activity when circGigyf2 is reduced; RBP sequestration of CPSF6 affecting proximal polyadenylation site processing efficiency of CPSF6 targets
Biological pathway or process:

ceRNA regulation (promotes); apoptosis (inhibits)

Detected method:
Q
S
Validation methods:

RNase R Treatment; RNA-seq; Bioinformatics Analysis; RT-qPCR; divergent primers PCR; RNA Pull-Down; Western Blot; Transfection; In Vivo Animal Model; TUNEL

Clinical significance:

circGIGYF2 levels in AD patients’ cortices are negatively correlated with dementia severity (clinical dementia rating) in BM36 and BM44

Description:

circGigyf2/circGIGYF2 is progressively down-regulated at the irreversible progression stage of AD in 5xFAD mouse cortex and in specific human AD subcortical regions, correlating with dementia severity. Its reduction releases sponged miR-17-5p/miR-93-5p and CPSF6, enhancing miRNA silencing and CPSF6-mediated proximal polyadenylation, which promotes vulnerability to neuronal apoptosis.

Confidence score:

0.717

Other information
Title:

Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer's disease.

Journal: Genome medicine
Published: 2024
PubMed ID: 39529134
Study type:

combined biological and clinical study

Data availability: GSE236683; GSE272744; GSE272745; https://www.synapse.org/Synapse:syn7416949; GSE179630; https://data.mendeley.com/datasets/vmz7m7t9zb/1
Code availability: https://github.com/YaoLabEmory/ADcircRNA