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The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts
Journal article   Open access   Peer reviewed

The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts

Lung-Chih Yu, Yuh-Ching Twu, Ming-Lun Chou, Marion E. Reid, Alan R. Gray, Joann M. Moulds, Ching-Yi Chang, Marie Lin and Mandy Lin
Blood, v 101(6), pp 2081-2087
15 Mar 2003
DOI: https://doi.org/10.1182/blood-2002-09-2693
PMID: 12424189
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://doi.org/10.1182/blood-2002-09-2693View
Published, Version of Record (VoR)Open Access (License Unspecified),  Open

Abstract

The human i and I antigens are characterized as linear and branched repeats of N-acetyllactosamine, respectively. Conversion of the i to the I structure requires I-branching β-1,6-N-acetylglucosaminyltransferase activity. It has been noted that the null phenotype of I, the adult i phenotype, is associated with congenital cataracts in Asians. Previously, the identification of molecular changes in the IGnT gene, associated with the adult i phenotype, has been reported. In the present study, we demonstrate that the human I locus expresses 3 IGnT forms, designated IGnTA, IGnTB, and IGnTC, which have different exon 1, but identical exons 2 and 3, coding regions. The molecular genetics proposed for the I locus offer a new perspective on the formation and expression of the I antigen in different cells and provide insight into the questions derived from investigation of the adult i phenotype. Molecular genetic analyses of the Iloci of the 2 adult i groups, with and without congenital cataracts, were performed, and enzyme function assays and expression patterns for the 3 IGnT transcripts in reticulocytes and lens-epithelium cells were analyzed. The results suggest a molecular genetic mechanism that may explain the partial association of the adult i phenotype with congenital cataracts and indicate that a defect in theI locus may lead directly to the development of congenital cataracts. The results also suggest that the human blood groupI gene should be reassigned to the IGnTC form, not the IGnTB form, as described previously.

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Domestic collaboration
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Web of Science research areas
Hematology
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