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R Winardi, M Reid, J Conboy and N Mohandas
Lawrence Berkeley Laboratory, University of California, Berkeley 94720.
Human erythrocyte glycophorin C plays a functionally important role in
maintaining erythrocyte shape and regulating membrane mechanical stability.
We report here the characterization of the glycophorins C and D deficiency
in erythrocytes of the Leach phenotype. Glycophorin C gene is encoded by 4
exons. Amplification of reticulocyte cDNA from Leach phenotype and normal
individuals generated a 140-bp fragment when using primers spanning exons 1
and 2. However, no polymerase chain reaction (PCR) products were detected
in the Leach phenotype using primers flanking either exons 1 and 3 or exons
1 and 4, suggesting that the 3' end of the mRNA was missing or altered.
Exon 4 also appeared to be missing from Leach genomic DNA, based on both
Southern hybridization and PCR. These results indicate that an absence of
glycophorin C and glycophorin D in erythrocytes from these Leach phenotype
individuals is a consequence of a deletion or marked alteration of exon 3
and exon 4 of their glycophorin C gene. Surprisingly, the mutant gene
encodes an mRNA stable enough to be detected in circulating reticulocytes.
Although this mRNA could encode an N-terminal fragment of glycophorin C,
these protein isoform(s) would not be expressed in the membrane because
they lack the transmembrane and cytoplasmic domains.
This article has been cited by other articles:
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| Copyright © 1993 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
