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Updated: Aug 21, 2026

Mouse Model of Middle Cerebral Artery Occlusion
Published on: February 13, 2011
CTCFL expression is associated with cerebral vascular abnormalities
Leyla Sati1, Bikem Soygur2, Ethem Goksu3
1Department of Histology and Embryology, Akdeniz University School of Medicine, Antalya, Turkey.
Abstract:
CTCFL is expressed in testis, oocytes and embryonic stem cells, and is aberrantly expressed in malignant cells, and is classified as a cancer-testis gene. We have previously shown by using a tetracycline-inducible Ctcfl transgene that inappropriate expression of Ctcfl negatively impacts fetal development and causes early postnatal lethality in the mouse. The affected pups displayed severe vascular abnormalities and localized hemorrhages in the brain evocative of cerebral cavernous malformations (CCM) and arteriovenous malformations (AVM) in humans. Thus, we aim to analyze; a) the presence of CCM-related proteins CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10 in Ctcfl transgenic animals and, b) whether there is CTCFL expression in human CCM and AVM tissues. Ctcfl transgenic animals exhibited increased CD31 expression in vascular areas of the dermis and periadnexal regions but no difference was observed for vWF and α-SMA expressions. CCM-related proteins CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10 were aberrantly expressed in coronal sections of the head in transgenic animals. We also observed CTCFL expression in human CCMs and AVMs. The induced expression of CTCFL resulting in vascular brain malformations in mice combined with the presence of CTCFL in human vascular malformations provide new insights into the role of this gene in vascular development in humans.
Insights
Cancer-testis gene CTCFL (Cell- and testis-associated protein) overexpression in mice caused vascular brain malformations. CTCFL was also found in human cerebral cavernous malformations (CCM) and arteriovenous malformations (AVM), suggesting a role in human vascular development.
Area of Science:
- Developmental Biology
- Genetics
- Oncology
Background:
- The cancer-testis gene CTCFL (Cell- and testis-associated protein) is aberrantly expressed in malignant cells.
- Previous studies demonstrated that inappropriate Ctcfl expression in mice leads to fetal developmental issues and postnatal lethality.
- Affected mouse pups exhibited severe vascular abnormalities, including brain hemorrhages resembling human cerebral cavernous malformations (CCM) and arteriovenous malformations (AVM).
Purpose of the Study:
- To investigate the presence of CCM-related proteins (CCM1/KRIT1, CCM2/malcavernin, CCM3/PDCD10) in Ctcfl transgenic mice.
- To determine if CTCFL is expressed in human CCM and AVM tissues.
- To explore the role of CTCFL in vascular development.
Main Methods:
- Utilized a tetracycline-inducible Ctcfl transgene in mice to study gene expression effects.
- Analyzed vascular markers (CD31, vWF, α-SMA) in transgenic animals.
- Examined the expression of CCM-related proteins in mouse models.
- Detected CTCFL expression in human CCM and AVM tissue samples.
Main Results:
- Ctcfl transgenic animals showed increased CD31 expression in specific vascular areas.
- CCM-related proteins CCM1/KRIT1, CCM2/malcavernin, and CCM3/PDCD10 were aberrantly expressed in the heads of transgenic mice.
- CTCFL expression was confirmed in human CCM and AVM tissues.
Conclusions:
- Induced CTCFL expression in mice results in vascular brain malformations.
- The presence of CTCFL in human vascular malformations suggests a role in human vascular development.
- These findings offer new insights into CTCFL's function in vascular development.
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