COL3A1 and Associated Diseases
Description & Mapping of COL3A1
COL3A1, located on chromosome 2q31-q32.3 in humans, encodes for the collagen type III alpha 1 chain, also known as the pro-α1 chain of type III collagen. Type III collagen is a fibrillar-forming collagen comprising 3 alpha-1(III) chains and is expressed in early embryos and throughout embryogenesis. Pro-α1 chains are hydroxylated, glycosylated, and incorporated into trimers to form the procollagen. This molecule undergoes secretion and removal of its amino-terminal and carboxy-terminal ends to form tropocollagen fibers, which leads to the production of collagen fibers. Three α1 chains are contained in a type III collagen molecule, which has a long triple-helical domain. Type III collagen constitutes about 5-20% of the entire collagen content in the human body. It plays an essential role in the structural integrity of arteries, the uterus, and the bowel.
Fig.1 Structural domains of type III procollagen molecule. (Kuivaniemi, 2019)
COL3A1-Related Disorders
Type III collagen has many important physiological functions, and abnormal expression of collagen type III α 1 is closely implanted in different types of human cancers and tumors.
- Brain Tumor
Collagen type III α 1 was overexpressed in brain tumors at different stages. Their results demonstrate that the COL3A1 gene appeared to be differentially regulated in bulk tumors and that this upregulation was preserved in both primary and metastatic brain tumors.
- Breast Cancer
In breast cancer, it was found that methyltransferase-like 3 could target COL3A1 in triple-negative breast cancer cell lines. Methyltransferase-like 3 could suppress the expression of COL3A1 by upregulating m6A methylation, ultimately inhibiting the metastasis of triple-negative breast cancer cells.
- Osteosarcoma
In osteosarcoma, it was found that the microRNA-29 family may play a tumor-inhibitory role in controlling methotrexate resistance and apoptosis by targeting COL3A1 or myeloid leukemia 1 (MCL1) apoptosis regulators.
- Esophageal Squamous Cell Carcinoma
COL3A1 protein expression levels were also found to be considerably up-regulated in esophageal squamous cell carcinoma (ESCC) cells in comparison with normal esophageal squamous epithelial cells. Furthermore, down-regulation of COL3A1 expression also suppressed the growth of ESCC in subcutaneous xenograft mouse models and inhibited ESCC metastasis in lung metastasis mouse models. And this tumor-promoting effect of COL3A1 on ESCC cells was related to the activation of the NF-кB signaling pathway.
Fig.2 COL3A1 in esophageal squamous cell carcinoma. (Zhou, 2022)
To study direct the role of COL3A1 in development and disease, numerous animal models have been established and have revealed many important mechanisms of the underlying pathology. At Creative Biolabs, we provide genetically modified mice services to our clients all over the world. If you are interested in our Gene Editing for Gene Therapy services, please feel free to contact us for more.
References
- Kuivaniemi, H.; Tromp, G. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene. 2019, 707: 151-171.
- Zhou, J.; et al. Overexpressed COL3A1 has prognostic value in human esophageal squamous cell carcinoma and promotes the aggressiveness of esophageal squamous cell carcinoma by activating the NF-κB pathway. Biochemical and biophysical research communications. 2022, 613: 193-200.
