Journal article
Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion
Z Wu, R Liang, T Ohnesorg, V Cho, W Lam, WP Abhayaratna, PA Gatenby, C Perera, Y Zhang, B Whittle, A Sinclair, CC Goodnow, M Field, TD Andrews, MC Cook
Plos Genetics | PUBLIC LIBRARY SCIENCE | Published : 2016
Abstract
Most humans harbor both CD177neg and CD177pos neutrophils but 1–10% of people are CD177null, placing them at risk for formation of anti-neutrophil antibodies that can cause transfusion-related acute lung injury and neonatal alloimmune neutropenia. By deep sequencing the CD177 locus, we catalogued CD177 single nucleotide variants and identified a novel stop codon in CD177null individuals arising from a single base substitution in exon 7. This is not a mutation in CD177 itself, rather the CD177null phenotype arises when exon 7 of CD177 is supplied entirely by the CD177 pseudogene (CD177P1), which appears to have resulted from allelic gene conversion. In CD177 expressing individuals the CD177 l..
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Awarded by National Institute of Allergy and Infectious Diseases
Funding Acknowledgements
This work was supported by Private Practice Fund Grants from the Canberra Hospital (MCC, CP, WPA, PAG, and ZW), National Health and Medical Research Council Australia Fellowship 585490 (CCG) and National Health and Medical Research Council Program Grant 1016953 (MCC, CCG). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.