Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis
Resource
CURRENT OPINION IN HEMATOLOGY, 18(6), 421-426
Journal
Current Opinion in Hematology
Pages
421-426
Date Issued
2011
Date
2011
Author(s)
Lin, Marie
Abstract
Purpose of review: The molecular genetics of the blood group I system and the regulation mechanism for I antigen expression in postnatal red blood cells are intriguing. This review summarizes their elucidation and recent findings. RECENT FINDINGS: Accumulating data from the molecular analysis of individuals with the adult i phenotype supports the proposed molecular genetic mechanism for the partial association of the adult i phenotype with congenital cataracts. Recent investigations have shown that the regulation of I antigen formation during erythropoiesis is determined by transcription factor CCAAT/enhancer binding protein-α (C/EBPα) and the phosphorylation status of C/EBPα Ser-21 residue. Summary: The human I locus is organized such that it has an uncommon genetic architecture and expresses three different I transcript forms. The results obtained from molecular analysis of two adult i groups, with and without congenital cataracts, demonstrate that the molecular background accounts for the partial association between these two traits and suggest that an I gene defect may lead directly to the development of congenital cataracts. Analysis of the regulation for I antigen expression shows that the regulation during erythropoiesis and granulopoiesis share a common mechanism, with dephosphorylation of the Ser-21 residue on C/EBPα playing the critical role. ? 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Subjects
adult i phenotype; blood groups; CCAAT/enhancer binding protein-α; congenital cataracts; I antigen
SDGs
Other Subjects
blood group I antigen; CCAAT enhancer binding protein alpha; serine; antigen expression; congenital cataract; dephosphorylation; erythropoiesis; gene locus; granulopoiesis; human; molecular genetics; perinatal period; phenotype; priority journal; protein phosphorylation; regulatory mechanism; review; Cataract; Erythrocytes; Erythropoiesis; Glycosphingolipids; Humans; I Blood-Group System; Leukopoiesis
Type
journal article
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