C57BL/6NCya-Cyp39a1em1flox/Cya
Common Name:
Cyp39a1-flox
Product ID:
S-CKO-11933
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Cyp39a1-flox
Strain ID
CKOCMP-56050-Cyp39a1-B6N-VA
Gene Name
Product ID
S-CKO-11933
Gene Alias
mCYP39A1
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Cyp39a1em1flox/Cya mice (Catalog S-CKO-11933) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000170988
NCBI RefSeq
NM_018887
Target Region
Exon 3
Size of Effective Region
~0.7 kb
Detailed Document
Overview of Gene Research
CYP39A1, a member of the cytochrome P450 family, functions as an oxysterol 7α -hydroxylase, selectively catalyzing the 7α -hydroxylation of 24 -hydroxycholesterol [8,9]. It is involved in the alternative bile acid synthesis pathway in the liver and is also expressed in the ciliary nonpigmented epithelium of the eye, suggesting a role in ocular sterol metabolism [9]. It may be regulated by the orphan nuclear receptor RORα, and abnormal expression can lead to the accumulation of 24S -OHC, influencing neurodegenerative disease-related deterioration [7].
In hepatocellular carcinoma (HCC), CYP39A1 protein and mRNA expression are downregulated compared to non-cancerous liver tissues. Overexpression of CYP39A1 inhibits HepG2 and SMMC-7721 cell viability, while knockout promotes HCC cell growth, indicating it may act as a tumor suppressor gene [1].
In exfoliation syndrome, carriers of functionally deficient CYP39A1 mutations have a significantly increased risk of glaucoma and blindness, and those with the CYP39A1 G204E mutation have a higher incidence of exfoliation glaucoma and more severe glaucoma [2,3].
In high-altitude pulmonary edema (HAPE), the methylation level of CYP39A1 is associated with the risk of HAPE in the Chinese population, with certain CpG sites having either a protective or risk-increasing role [4].
In advanced head and neck cancer, the CYP39A1 rs7761731 polymorphism is associated with a higher incidence of leucopenia and infections or death during intensive induction chemotherapy [5].
In cholangiocarcinoma, low CYP39A1 expression is correlated with metastasis and poor prognosis [6].
In conclusion, CYP39A1 plays diverse roles in multiple biological processes and disease conditions. Its downregulation in HCC, association with glaucoma in exfoliation syndrome, and link to HAPE risk, among others, highlight its significance. Gene knockout and related functional studies in various models contribute to understanding its role in these diseases, potentially providing new directions for disease diagnosis, prevention, and treatment [1-6].
References：
1. Li, Dan, Yu, Tao, Hu, Junjie, Gu, Lijuan, Zeng, Zhi. 2021. Downregulation of CYP39A1 Serves as a Novel Biomarker in Hepatocellular Carcinoma with Worse Clinical Outcome. In Oxidative medicine and cellular longevity, 2021, 5175581. doi:10.1155/2021/5175581. https://pubmed.ncbi.nlm.nih.gov/35003516/
2. Bell, Katharina, Ozaki, Mineo, Mori, Kazuhiko, Khor, Chiea Chuen, Aung, Tin. 2021. Association of the CYP39A1 G204E Genetic Variant with Increased Risk of Glaucoma and Blindness in Patients with Exfoliation Syndrome. In Ophthalmology, 129, 406-413. doi:10.1016/j.ophtha.2021.11.001. https://pubmed.ncbi.nlm.nih.gov/34763023/
3. Li, Zheng, Wang, Zhenxun, Lee, Mei Chin, Tam, Wai Leong, Khor, Chiea Chuen. . Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. In JAMA, 325, 753-764. doi:10.1001/jama.2021.0507. https://pubmed.ncbi.nlm.nih.gov/33620406/
4. Wang, Pingyi, Lu, Hongyan, Rong, Hao, He, Yongjun, Jin, Tianbo. 2023. The Association of Methylation Level in the CYP39A1 Gene with High Altitude Pulmonary Edema in the Chinese Population. In Pharmacogenomics and personalized medicine, 16, 617-628. doi:10.2147/PGPM.S397862. https://pubmed.ncbi.nlm.nih.gov/37366513/
5. Melchardt, Thomas, Hufnagl, Clemens, Magnes, Teresa, Greil, Richard, Egle, Alexander. 2015. CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer. In BMC cancer, 15, 725. doi:10.1186/s12885-015-1776-x. https://pubmed.ncbi.nlm.nih.gov/26475344/
6. Khenjanta, Chakkaphan, Thanan, Raynoo, Jusakul, Apinya, Pairojkul, Chawalit, Yongvanit, Puangrat. . Association of CYP39A1, RUNX2 and oxidized alpha-1 antitrypsin expression in relation to cholangiocarcinoma progression. In Asian Pacific journal of cancer prevention : APJCP, 15, 10187-92. doi:. https://pubmed.ncbi.nlm.nih.gov/25556446/
7. Matsuoka, Hiroshi, Katayama, Miyu, Ohishi, Ami, Shima, Akiho, Michihara, Akihiro. 2020. Orphan Nuclear Receptor RORα Regulates Enzymatic Metabolism of Cerebral 24S-Hydroxycholesterol through CYP39A1 Intronic Response Element Activation. In International journal of molecular sciences, 21, . doi:10.3390/ijms21093309. https://pubmed.ncbi.nlm.nih.gov/32392803/
8. Grabovec, I P, Smolskaya, S V, Baranovsky, A V, Usanov, S A, Strushkevich, N V. 2019. Ligand-binding properties and catalytic activity of the purified human 24-hydroxycholesterol 7α-hydroxylase, CYP39A1. In The Journal of steroid biochemistry and molecular biology, 193, 105416. doi:10.1016/j.jsbmb.2019.105416. https://pubmed.ncbi.nlm.nih.gov/31247323/
9. Ikeda, Hiromi, Ueda, Masamichi, Ikeda, Masataka, Kobayashi, Hiroshi, Honda, Yoshihito. . Oxysterol 7alpha-hydroxylase (CYP39A1) in the ciliary nonpigmented epithelium of bovine eye. In Laboratory investigation; a journal of technical methods and pathology, 83, 349-55. doi:. https://pubmed.ncbi.nlm.nih.gov/12649335/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen