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The mouse Kell blood group gene (Kel): cDNA sequence, genomic organization, expression, and enzymatic function
1The Lindsley F. Kimball Research Institute of the New York Blood Center, NY 10021, USA.
Immunogenetics
|December 29, 2000
Summary
Researchers characterized the mouse Kell blood group system, finding high sequence identity with humans. This study details the mouse Kell gene, protein expression, and enzymatic function, crucial for understanding transfusion medicine and related disorders.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- The Kell blood group system is vital in transfusion medicine due to antigen polymorphism and potential for severe transfusion reactions.
- Maternal Kell alloimmunization can cause fetal and neonatal anemia.
- Kell is a membrane glycoprotein linked to XK, absence of which causes McLeod syndrome.
Purpose of the Study:
- To determine the cDNA sequence, gene organization, protein expression, and enzymatic function of the mouse Kell homologue.
- To compare mouse and human Kell proteins and genes.
Main Methods:
- cDNA sequencing
- Gene organization analysis
- Northern blot analysis for gene expression
- Western blot analysis for protein characterization
Main Results:
- Mouse and human Kell cDNA showed 80% nucleotide and 74% amino acid identity.
- Mouse Kell has more N-linked carbohydrate side chains and an additional extracellular cysteine compared to human Kell.
- The mouse Kell gene (Kel) is organized into 19 exons and located on Chromosome 6.
- High Kel expression was observed in spleen, with weaker levels in testis and heart.
- Mouse Kell glycoprotein has an apparent molecular weight of 110,000 (80,000 after deglycosylation) and exhibits endothelin-3-converting enzyme activity, similar to human Kell.
Conclusions:
- The mouse Kell homologue shares significant sequence and functional similarities with human Kell.
- This mouse model provides a valuable tool for studying the Kell blood group system, transfusion reactions, and McLeod syndrome.