RNA and protein expression of HLA-A∗23:19Q

Gerritsen, K. E. H.; Voorter, C. E. M.; Joannes, Marie-Odile; Senden-Gijsbers, Birgit L. M. G.; Agis, F; Wieten, Lotte; Tilanus, Marcel G.J.

doi:10.1016/j.humimm.2015.02.001

Cited by 9 publications

(7 citation statements)

References 26 publications

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“…The impact of mutations in the 3′‐end of an exon on splicing has been previously reported for HLA class I genes . HLA‐A*23:19N shows a single nucleotide substitution from A*23:01 at the 5′ donor splicing site on exon 3.…”

Section: Discussionmentioning

confidence: 79%

“…The HLA‐A*23:19N and A*01:11N alleles show point mutations in exon 3 that deactivate and produce alternative 5′ splicing sites, respectively . These 2 null alleles were identified by combining serology and molecular typing methods.…”

Section: Discussionmentioning

confidence: 99%

“…Deletions or insertions which lead to a shift in the reading frame, resulting in a premature stop codon and a truncated non‐functional protein have also been found in a smaller number of cases . Finally, a few HLA class I null alleles have been reported whose fail of surface expression can be explained by mutations that lead to alternative splicing mechanisms …”

Section: Introductionmentioning

confidence: 99%

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RNA processing and protein expression of HLA‐B07:44N*

Balas

García‐Sánchez

2017

HLA

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Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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RNA processing and protein expression of HLA‐B07:44N*

Balas

García‐Sánchez

2017

HLA

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“…Since HLA mismatches may produce severe graft –vs host disease (GvHD) and graft rejection, a misinterpretation of these variants could strongly affect transplant‐related mortality. Hence, several studies proposed assays and methods to discriminate between low expressed or non‐expressed HLA alleles, mainly based on EBV‐transformed cell lines or on recombinant HLA‐molecules' cloning and transfection in established cell lines, not easily reproducible in most laboratories. Gerritsen et al demonstrated that HLA‐A*23:19Q , which has a single polymorphism at position 619 (G > A) compared with HLA‐A*23:01:01 , has no expression by serology and flow cytometry, therefore, it should be reclassified as a null allele .…”

Section: Discussionmentioning

confidence: 99%

Expression profile of HLA‐B38:55Q* allele

Fusco¹,

Cervelli

Mas

et al. 2020

HLA

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The identification of null or questionably expressed HLA allelic variants is a major issue in HLA diagnostics, because the mistyping of the aberrant expression of such alleles can have a major impact on the outcome of both hematopoietic stem cell transplantation (HSCT) and solid organ transplants. It is debated how questionable (Q) alleles, because of their unknown expression profile, should be considered in an allogenic HSCT setting. The HLA-B*38:55Q allele was detected as an HLA-B blank specificity; DNA sequencing identified a single polymorphism at position 373 in exon 3 (TGC > CGC), which results in the replacement of cysteine 101 with an arginine in the HLA-B heavy chain, thus, impairing disulfide bridge formation in the alpha-2 domain, essential for the normal expression of the HLA molecules. In order to determine the RNA and protein expression profile of this allelic variant, we analyzed antigenic expression at different levels, transcriptional and transductional, using a combination of cellular methods, such as serological testing and flow cytometric analysis, polymerase chain reaction (PCR) sequence-specific primer (SSP) cDNA group-specific amplification and immunocytochemical assay, demonstrating the prevalent cytoplasmatic distribution of the HLA-B*38:55Q protein.Our findings suggest that in matching process the HLA-B*38:55Q allele needs to be considered as a low expressed allele, able to elicit an allogenic T-cell response in vivo and impair the transplant outcome. K E Y W O R D S hematopoietic stem cell transplantation, HLA expression variants, HLA-B*38:55Q, null alleles, questionable expression allele

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“…Two main mRNA variants were identified: one transcript lacking exon 3 due to exon skipping, and the other variant including introns 2 and 3 together with exon 3. However, no HLA‐A23 molecule was detectable at the cell surface (Gerritsen et al ., ).…”

Section: Aberrant Expression Patterns Of Hla Class I Alleles Caused Bmentioning

confidence: 97%

The role of gene polymorphism in HLA class I splicing

Voorter

Gerritsen

Groeneweg

et al. 2016

Int J Immunogenetics

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Among the large number of human leucocyte antigen (HLA) alleles, only a few have been identified with a nucleotide polymorphism impairing correct splicing. Those alleles show aberrant expression levels, due to either a direct effect of the polymorphism on the normal splice site or to the creation of an alternative splice site. Furthermore, in several studies, the presence of alternatively spliced HLA transcripts co-expressed with the mature spliced transcripts was reported. We evaluated the splice site sequences of all known HLA class I alleles and found that, beside the consensus GT and AG sequences at the intron borders, there were some other highly conserved nucleotides for the different class I genes. In this review, we summarize the splicing mechanism and evaluate what is known today about alternative splicing of HLA class I genes.

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RNA and protein expression of HLA-A∗23:19Q

Cited by 9 publications

References 26 publications

RNA processing and protein expression of HLA‐B07:44N*

RNA processing and protein expression of HLA‐B07:44N*

Expression profile of HLA‐B38:55Q* allele

The role of gene polymorphism in HLA class I splicing

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RNA and protein expression of HLA-A∗23:19Q

Cited by 9 publications

References 26 publications

RNA processing and protein expression of HLA‐B*07:44N

RNA processing and protein expression of HLA‐B*07:44N

Expression profile of HLA‐B*38:55Q allele

The role of gene polymorphism in HLA class I splicing

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RNA processing and protein expression of HLA‐B07:44N*

RNA processing and protein expression of HLA‐B07:44N*

Expression profile of HLA‐B38:55Q* allele