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RNA processing and protein expression of HLA-B*07:44N
A Balas1, F García-Sánchez1, J L Vicario1
1Departamento de Histocompatibilidad, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain.
HLA
|February 17, 2017
Summary
A human leukocyte antigen (HLA) null allele, B*07:44, lacks cell surface expression due to aberrant mRNA splicing. This finding is crucial for stem cell transplantation and led to its reclassification as B*07:44N.
Area of Science:
- Immunogenetics
- Molecular Biology
Background:
- Human Leukocyte Antigen (HLA) null alleles are critical in stem cell transplantation.
- The HLA-B allele, previously designated B*07:44, underwent investigation for cell surface expression and mRNA processing.
Purpose of the Study:
- To characterize the molecular basis of the HLA-B*07:44 variant.
- To determine if B*07:44 functions as an HLA null allele.
Main Methods:
- Flow cytometry was used to assess cell surface expression of HLA-B*07:44.
- Sanger sequencing was employed for genomic and cDNA analysis of HLA-B*07:44.
Main Results:
- Flow cytometry confirmed a lack of HLA-B protein on the cell surface.
- Aberrant mRNA splicing was identified, featuring a deletion in exon 4 and a new splice donor site.
- This alternative splicing resulted in a premature stop codon, preventing mature protein formation.
Conclusions:
- The HLA-B*07:44 variant is functionally a null allele.
- The World Health Organization (WHO) Nomenclature Committee has officially renamed this variant B*07:44N.
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