The <i>DAU</i> cluster: a comparative analysis of 18 <i>RHD</i> alleles, some forming partial D antigens

Srivastava, Kshitij; Polin, Helene; Sheldon, Sherry L.; Wagner, Franz F.; Grabmer, Christoph; Gabriel, Christian; Denomme, Gregory A.; Flegel, Willy A.

doi:10.1111/trf.13739

Cited by 17 publications

(25 citation statements)

References 66 publications

(109 reference statements)

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“…As no other structural model is available, it is difficult to compare our model with other existing models. However, we can highlight several differences between our model and that recently proposed by Srivastava and coworkers . They provided a 2D representation of their models (see Fig.…”

Section: Discussionmentioning

confidence: 75%

“…Availability of human RhCG structure allowed Silvy and coworkers to build structural models for RhD. Srivastava and colleagues partly based their interpretation of DAU clusters on an automatically generated structural model of RhD. They mapped the positions of the different DAU variants on the structural model, color‐coding positions accordingly to the predicted potential impact of the variants (more details can be found in Discussion S1).…”

Section: Discussionmentioning

confidence: 99%

“…They provided a 2D representation of their models (see Fig. in Srivastava et al), in which the length of the loops and the residues at the start of transmembrane domains often differ from those in our model.…”

Section: Discussionmentioning

confidence: 99%

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Alloimmunization risk associated with amino acid 223 substitution in the RhD protein: analysis in the light of molecular modeling

et al. 2018

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BACKGROUND Partial D status is a major concern for transfusion and pregnancy, due to the possibility of carriers becoming immunized. When known carriers of a D variant have never been exposed to complete D, they are assumed to have D partial status based on the position of the amino acid substituted. New approaches for predicting immunization risk are required. We built a three‐dimensional (3D) structural model to investigate the consequences of substitutions of Amino Acid 223 involved in a large number of D variants. STUDY DESIGN AND METHODS Homology modeling was performed with multiple templates. The model was evaluated by comparing the interactions of the known p.Phe223Val variant (RHD*08.01) and a new p.Phe223Ser variant (RHD*52) to RhD reference allele (p.Phe223). The consequences predicted by modeling the variants were compared with serologic data. RESULTS The 3D structural model was generated from two related protein structures and assessed with state‐of‐the‐art approaches. An analysis of the interactions of the variant Residue 223 in the proposed 3D model highlighted the importance of this position. Modeling predictions were consistent with the serologic and clinical data obtained for the D antigen with a substitution of Amino Acid 223. CONCLUSION We used a 3D structural model to evaluate the effect of the p.Phe223 substitution on the conformation of the RhD protein. This model shed light on the influence of substitutions on the structure of the RhD protein and the associated alloimmunization risk. These initial findings indicate that the p.Phe223Ser variant can be considered partial.

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Section: Discussionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 99%

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Alloimmunization risk associated with amino acid 223 substitution in the RhD protein: analysis in the light of molecular modeling

et al. 2018

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“…This typing is based on the RHD and RHCE BeadChip DNA array (BioArray/Immucor®, Warren NJ, USA), together with several additional assays performed in our laboratory to detect alleles of interest. The c.1136C>T substitution in the DAU0 allele (RHD*10.00) is predicted to be neutral [22] and was not routinely detected at our laboratory.…”

Section: Part Ii: Review Of the French Strategy At Lihm Créteil Betwementioning

confidence: 99%

Genotyping in Sickle Cell Disease Patients: The French Strategy

Floch

Tournamille

Chami

2018

Transfus Med Hemother

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This review presents the French strategy for blood group genotyping in high-responder and newly diagnosed sickle cell disease (SCD) patients. In addition to FY, JK, and MNS genotyping, the RH blood group system is now explored in SCD patients in France. Molecular typing has been used for the deduction of partial RH2 (C) antigens since 2010, and the gradual implementation of systematic RHD and RHCE genotyping nationwide was initiated in late 2014. In our laboratory, 962 RH:2 (C-positive) SCD patients have been tested since 2010, and 1,148 SCD patients of all RH phenotypes have been genotyped for clinically relevant alleles of RHD and RHCE since late 2014.

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“…For screening of the RHCE gene, characteristic SNPs were determined (RHCE BeadChip Kit, BioArray Solutions), which cannot detect RHCE*ceAG recently described in African Americans . Nucleotide sequences were aligned and compared to reference sequences as described previously …”

Section: Methodsmentioning

confidence: 99%

Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia

et al. 2017

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Background With more than 460 RHD alleles, this gene is the most complex and polymorphic among all blood group systems. The Tunisian population has the largest known prevalence of weak D type 4.0 alleles, occurring in 1 of 105 RH haplotypes. We aimed to establish a rationale for the transfusion strategy of weak D type 4.0 in Tunisia. Study design and methods Donors were randomly screened for the serological weak D phenotype. The RHD coding sequence and parts of the introns were sequenced. To establish the RH haplotype, the RHCE gene was tested for characteristic single nucleotide positions. Results We determined all RHD alleles and the RH haplotypes coding for the serologic weak D phenotype among 13,431 Tunisian donations. A serologic weak D phenotype was found in 67 individuals (0.50%). Among them, 60 carried a weak D type 4 allele: 53 weak D type 4.0, 6 weak D type 4.2.2 (DAR), and 1 weak D type 4.1. Another 4 donors had 1 variant allele each: DVII, weak D type 1, weak D type 3, and weak D type 100, while 3 donors showed a normal RHD sequence. The weak D type 4.0 was most often linked to RHCE*ceVS.04.01, weak D type 4.2.2 to RHCE*ceAR, and weak D type 4.1 to RHCE*ceVS.02, while the other RHD alleles were linked to one of the common RHCE alleles. Conclusions Among the weak D phenotypes in Tunisia, no novel RHD allele was found and almost 90% were caused by alleles of the weak D type 4 cluster, of which 88% represented the weak D type 4.0 allele. Based on established RH haplotypes for variant RHD and RHCE alleles and the lack of adverse clinical reports, we recommend D positive transfusions for patients with weak D type 4.0 in Tunisia.

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The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens

Cited by 17 publications

References 66 publications

Alloimmunization risk associated with amino acid 223 substitution in the RhD protein: analysis in the light of molecular modeling

Alloimmunization risk associated with amino acid 223 substitution in the RhD protein: analysis in the light of molecular modeling

Genotyping in Sickle Cell Disease Patients: The French Strategy

Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia

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