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Rh Blood Group and RHD Gene Overview

The document summarizes information about the RHD gene, which codes for the RhD erythrocyte membrane protein known as the Rh factor antigen. It notes that RHD has sequence similarity to other Rh genes, and that RhAG is required for normal cell surface expression of RhD and RhCE. A knockout mouse model was used to study the RHD gene, and showed that homozygous mutant males had decreased mean corpuscular hemoglobin.

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5 views1 page

Rh Blood Group and RHD Gene Overview

The document summarizes information about the RHD gene, which codes for the RhD erythrocyte membrane protein known as the Rh factor antigen. It notes that RHD has sequence similarity to other Rh genes, and that RhAG is required for normal cell surface expression of RhD and RhCE. A knockout mouse model was used to study the RHD gene, and showed that homozygous mutant males had decreased mean corpuscular hemoglobin.

Uploaded by

Zum Lopis
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as DOCX, PDF, TXT or read online on Scribd

Rh blood group, D antigen also known as Rh polypeptide 1 (RhPI) or cluster of differentiation

240D (CD240D) is a protein that in humans is encoded by the RHD gene.[5]


The RHD gene codes for the RhD erythrocyte membrane protein that is the Rh factor antigen of
the Rh blood group system.[6] RHD has sequence similarity to RHCE, RhAG, RhBG, and RhCG and
these five genes constitute the Rh family. It was proposed that the erythrocyte Rh complex is a
heterotrimer of RhAG, RhD, and RhCE protein subunits.[7] RhAG is a functional ammonia
transporter and is required for normal cell surface expression of RhD and RhCE. Patients who lack
RhD/RhCE/RhAG on the surface of their erythrocytes have hemolytic anemia. Antibodies to the RhD
protein can cause Rh disease.

Contents

 1Model organisms
 2References
 3Further reading
 4See also

Model organisms[edit]
Rhd knockout mouse phenotype show

Model organisms have been used in the study of RHD function. A conditional knockout mouse line,
called Rhdtm1a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse
Consortium program — a high-throughput mutagenesis project to generate and distribute animal
models of disease to interested scientists.[14][15][16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of
deletion.[10][17] Twenty five tests were carried out on mutant mice and one significant abnormality was
observed: homozygous mutant males had a decrease in mean corpuscular hemoglobin.[10]

References

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