CCDC88C

Last update 08 May 2025

Basic Info

Synonyms

CCDC88C, coiled-coil domain containing 88C, Coiled-coil domain-containing protein 88C

+ [8]

Introduction

Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426).

100 Clinical Results associated with CCDC88C

100 Translational Medicine associated with CCDC88C

0 Patents (Medical) associated with CCDC88C

Literatures (Medical) associated with CCDC88C

20 Nov 2024·Nan fang yi ke da xue xue bao = Journal of Southern Medical University

[Differential expression profile of miRNAs in maternal amniotic fluid exosomes in fetuses with isolated ventriculomegaly].

Article

Author: Huang, Y ; Li, F ; Sun, Y ; Li, Y ; Lin, H ; Chang, Q ; Qin, X ; Zhu, W ; Qiu, Y

OBJECTIVETo investigate the role of miRNAs in maternal amniotic fluid exosomes in development of isolated ventriculomegaly (VM) in fetuses.METHODSAmniotic fluid samples were collected from 9 cases of moderate isolated VM and 8 normal control cases to extract exosomal miRNA, and miRNA sequencing technique was used to identify differentially expressed miRNAs between the two groups. Three miRNAs with significant differential expression between the two groups, whose high expression was associated with VM, were selected for verification with RT-qPCR. Dual luciferase reporter assays were used to verify the regulatory effect of miR-122-5p on its predicted target genes AKT3 and CCDC88C. Gene ontology (GO) and KEGG pathway analyses were performed to explore the possible roles of the top 40 significant differential miRNAs in the pathophysiology of VM.RESULTSWe identified a total of 272 differentially expressed miRNAs in VM cases, including 43 up-regulated and 229 down-regulated miRNAs. The target genes of these differential miRNAs were associated with DNA and transcription factor binding, transmembrane transporter and nucleic acid binding transcription factor activity, and cell developmental process. These miRNAs were mostly enriched in the MAPK, cGMP-PKG and Wnt signaling pathways. Verification with RT-qPCR showed that miR-122-5p expression level was significantly lower in VM group than in the control group (P < 0.05), which was consistent with miRNA sequencing results; let-7b-5p expression level was significantly lower in VM group, which was contrary to miRNA sequencing result. Dual luciferase reporter assays showed that miR-122-5p was not capable of regulating AKT3 or CCDC88C expressions.CONCLUSIONSThe highly abundant differentially expressed miRNAs in maternal amniotic fluid exosomes play important roles in the occurrence of fetal VM possibly by regulating the MAPK, PI3K-Akt, Wnt and cGMP-PKG signaling pathways.

01 Oct 2024·Prenatal Diagnosis

The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review

Article

Author: Herzeg, Akos ; Diafos, Loukas N. ; Borges, Beltran ; Sanders, Stephan J. ; Gupta, Nalin ; MacKenzie, Tippi C.

ABSTRACTRecent advances in gene therapy, particularly for single‐gene disorders (SGDs), have led to significant progress in developing innovative precision medicine approaches that hold promise for treating conditions such as primary hydrocephalus (CH), which is characterized by increased cerebrospinal fluid (CSF) volumes and cerebral ventricular dilation as a result of impaired brain development, often due to genetic causes. CH is a significant contributor to childhood morbidity and mortality and a driver of healthcare costs. In many cases, prenatal ultrasound can readily identify ventriculomegaly as early as 14–20 weeks of gestation, with severe cases showing poor neurodevelopmental outcomes. Postnatal surgical approaches, such as ventriculoperitoneal shunts, do not address the underlying genetic causes, have high complication rates, and result in a marginal improvement of neurocognitive deficits. Prenatal somatic cell gene therapy (PSCGT) promises a novel approach to conditions such as CH by targeting genetic mutations in utero, potentially improving long‐term outcomes. To better understand the pathophysiology, genetic basis, and molecular pathomechanisms of CH, we conducted a scoping review of the literature that identified over 160 published genes linked to CH. Mutations in L1CAM, TRIM71, MPDZ, and CCDC88C play a critical role in neural stem cell development, subventricular zone architecture, and the maintenance of the neural stem cell niche, driving the development of CH. Early prenatal interventions targeting these genes could curb the development of the expected CH phenotype, improve neurodevelopmental outcomes, and possibly limit the need for surgical approaches. However, further research is needed to establish robust genotype‐phenotype correlations and develop safe and effective PSCGT strategies for CH.

27 Aug 2024·Proceedings of the National Academy of Sciences

Wnt7b acts in concert with Wnt5a to regulate tissue elongation and planar cell polarity via noncanonical Wnt signaling

Article

Author: Adylkhan, Aray ; Rodeman, Natalie ; Hwang, Diane ; Moraes Borges, Ricardo ; Xie, Nicholas ; Smith, Connor ; Landin Malt, Andre ; Liu, Alice ; Hogan, Arielle ; Lu, Xiaowei

Intercellular signaling mediated by evolutionarily conserved planar cell polarity (PCP) proteins aligns cell polarity along the tissue plane and drives polarized cell behaviors during tissue morphogenesis. Accumulating evidence indicates that the vertebrate PCP pathway is regulated by noncanonical, β-catenin-independent Wnt signaling; however, the signaling components and mechanisms are incompletely understood. In the mouse hearing organ, both PCP and noncanonical Wnt (ncWnt) signaling are required in the developing auditory sensory epithelium to control cochlear duct elongation and planar polarity of resident sensory hair cells (HCs), including the shape and orientation of the stereociliary hair bundle essential for sound detection. We have recently discovered a Wnt/G-protein/PI3K pathway that coordinates HC planar polarity and intercellular PCP signaling. Here, we identify Wnt7b as a ncWnt ligand acting in concert with Wnt5a to promote tissue elongation in diverse developmental processes. In the cochlea, Wnt5a and Wnt7b are redundantly required for cochlear duct coiling and elongation, HC planar polarity, and asymmetric localization of core PCP proteins Fzd6 and Dvl2. Mechanistically, Wnt5a/Wnt7b-mediated ncWnt signaling promotes membrane recruitment of Daple, a nonreceptor guanine nucleotide exchange factor for Gαi, and activates PI3K/AKT and ERK signaling, which promote asymmetric Fzd6 localization. Thus, ncWnt and PCP signaling pathways have distinct mutant phenotypes and signaling components, suggesting that they act as separate, parallel pathways with nonoverlapping functions in cochlear morphogenesis. NcWnt signaling drives tissue elongation and reinforces intercellular PCP signaling by regulating the trafficking of PCP-specific Frizzled receptors.

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CCDC88C

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