An update on the I blood group system

Abstract

This update of the I blood group system (Cooling L. Polylactosamines, there's more than meets the "Ii": a review of the I system. Immunohematology 2010;26:133-55) continues to show the Ii antigens to be increasingly recognized as important posttranslational modifiers regulating cell adhesion, signaling, differentiation, and cancer. Ii antigens can modulate the immune response through the galectin lattice, as well as influence specific protein-protein interactions. Changes in GCNT2 and I expression accompany stem cell differentiation and are associated with tumor progression in melanoma and breast and colon cancer. Regulation of GCNT2 expression varies between cell types and differentiation. In red blood cell differentiation, GCNT2 is regulated by methylation, microRNAs, and mitogen-activated protein kinase signaling pathways. Methylation and microRNAs also play a prominent role in altering GCNT2 expression in several epithelial cancers. In congenital cataracts, GCNT2 mutations may account for 4-6 percent of all cases. GCNT2 may be particularly susceptible to gene deletion and rearrangements due to the density of Alu-repeat elements. Immunohematology 2019;35:85-90.

Bilateral congenital membranous cataracts due to Glucosaminyl (N-Acetyl) Transferase 2 (GCNT2) mutation: Life-saving genetic analysis

“…Increased GCNT2 expression is a common feature in metastatic breast cancer, prostate cancer, colon cancer, and adrenal adenomas. [ 9 ] In breast cancer cell lines, high GCNT2 mRNA expression increases the ability of cells to detach and migrate, endothelial cell adhesion, invasion, and pulmonary metastasis. Similar findings are reported in prostate and colon cancer.…”

“…Similar findings are reported in prostate and colon cancer. [ 9 ] Hypomethylation of GCNT2 has also been implicated in adrenal adenomas. [ 9 ] Since GCNT2 mutation predisposes the patient to other epithelial cancers, it is important to make the parents aware of the possibility of breast, prostate, and colon cancers which can help in early and life-saving diagnosis in the future.…”