PIGG defines the Emm blood group system
Abstract Emm is a high incidence red cell antigen with eight previously reported Emm− probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the...
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Nature Portfolio
2021
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oai:doaj.org-article:74df5f183e1f4e48a09153f5df5dff552021-12-02T18:02:31ZPIGG defines the Emm blood group system10.1038/s41598-021-98090-w2045-2322https://doaj.org/article/74df5f183e1f4e48a09153f5df5dff552021-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-98090-whttps://doaj.org/toc/2045-2322Abstract Emm is a high incidence red cell antigen with eight previously reported Emm− probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the antigenic epitope and genetic basis have been elusive. We investigated samples from a South Asian Indian family with two Emm− brothers by whole genome sequencing (WGS). Additionally, samples from four unrelated Emm− individuals were investigated for variants in the candidate gene. Filtering for homozygous variants found in the Emm− brothers and by gnomAD frequency of < 0.001 resulted in 1818 variants with one of high impact; a 2-bp deletion causing a frameshift and premature stop codon in PIGG [NM_001127178.3:c.2624_2625delTA, p.(Leu875*), rs771819481]. PIGG encodes for a transferase, GPI-ethanolaminephosphate transferase II, which adds ethanolamine phosphate (EtNP) to the second mannose in a GPI-anchor. The four additional unrelated Emm− individuals had various PIGG mutations; deletion of Exons 2–3, deletion of Exons 7–9, insertion/deletion (indel) in Exon 3, and new stop codon in Exon 5. The Emm− phenotype is associated with a rare deficiency of PIGG, potentially defining a new Emm blood group system composed of EtNP bound to mannose, part of the GPI-anchor. The results are consistent with the known PI-linked association of the Emm antigen, and may explain the production of the antibody in the absence of RBC transfusion. Any association with neurologic phenotypes requires further research.William J. LaneJudith AeschlimannSunitha VegeChristine Lomas-FrancisAnna BurgosHelen H. MahJustin B. L. HallsPeter BaeckPeter C. LigthartBarbera VeldhuisenRipal J. ShahSanmukh R. JoshiConnie M. WesthoffNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) |
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DOAJ |
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EN |
| topic |
Medicine R Science Q |
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Medicine R Science Q William J. Lane Judith Aeschlimann Sunitha Vege Christine Lomas-Francis Anna Burgos Helen H. Mah Justin B. L. Halls Peter Baeck Peter C. Ligthart Barbera Veldhuisen Ripal J. Shah Sanmukh R. Joshi Connie M. Westhoff PIGG defines the Emm blood group system |
| description |
Abstract Emm is a high incidence red cell antigen with eight previously reported Emm− probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the antigenic epitope and genetic basis have been elusive. We investigated samples from a South Asian Indian family with two Emm− brothers by whole genome sequencing (WGS). Additionally, samples from four unrelated Emm− individuals were investigated for variants in the candidate gene. Filtering for homozygous variants found in the Emm− brothers and by gnomAD frequency of < 0.001 resulted in 1818 variants with one of high impact; a 2-bp deletion causing a frameshift and premature stop codon in PIGG [NM_001127178.3:c.2624_2625delTA, p.(Leu875*), rs771819481]. PIGG encodes for a transferase, GPI-ethanolaminephosphate transferase II, which adds ethanolamine phosphate (EtNP) to the second mannose in a GPI-anchor. The four additional unrelated Emm− individuals had various PIGG mutations; deletion of Exons 2–3, deletion of Exons 7–9, insertion/deletion (indel) in Exon 3, and new stop codon in Exon 5. The Emm− phenotype is associated with a rare deficiency of PIGG, potentially defining a new Emm blood group system composed of EtNP bound to mannose, part of the GPI-anchor. The results are consistent with the known PI-linked association of the Emm antigen, and may explain the production of the antibody in the absence of RBC transfusion. Any association with neurologic phenotypes requires further research. |
| format |
article |
| author |
William J. Lane Judith Aeschlimann Sunitha Vege Christine Lomas-Francis Anna Burgos Helen H. Mah Justin B. L. Halls Peter Baeck Peter C. Ligthart Barbera Veldhuisen Ripal J. Shah Sanmukh R. Joshi Connie M. Westhoff |
| author_facet |
William J. Lane Judith Aeschlimann Sunitha Vege Christine Lomas-Francis Anna Burgos Helen H. Mah Justin B. L. Halls Peter Baeck Peter C. Ligthart Barbera Veldhuisen Ripal J. Shah Sanmukh R. Joshi Connie M. Westhoff |
| author_sort |
William J. Lane |
| title |
PIGG defines the Emm blood group system |
| title_short |
PIGG defines the Emm blood group system |
| title_full |
PIGG defines the Emm blood group system |
| title_fullStr |
PIGG defines the Emm blood group system |
| title_full_unstemmed |
PIGG defines the Emm blood group system |
| title_sort |
pigg defines the emm blood group system |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/74df5f183e1f4e48a09153f5df5dff55 |
| work_keys_str_mv |
AT williamjlane piggdefinestheemmbloodgroupsystem AT judithaeschlimann piggdefinestheemmbloodgroupsystem AT sunithavege piggdefinestheemmbloodgroupsystem AT christinelomasfrancis piggdefinestheemmbloodgroupsystem AT annaburgos piggdefinestheemmbloodgroupsystem AT helenhmah piggdefinestheemmbloodgroupsystem AT justinblhalls piggdefinestheemmbloodgroupsystem AT peterbaeck piggdefinestheemmbloodgroupsystem AT petercligthart piggdefinestheemmbloodgroupsystem AT barberaveldhuisen piggdefinestheemmbloodgroupsystem AT ripaljshah piggdefinestheemmbloodgroupsystem AT sanmukhrjoshi piggdefinestheemmbloodgroupsystem AT conniemwesthoff piggdefinestheemmbloodgroupsystem |
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