Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.
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Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.
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| uniprot:name |
Genomics
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| uniprot:author |
De Boulle K.,
Devries K.,
Kestelijn P.,
Meire F.,
Reyniers E.,
Van Thienen M.N.,
Willems P.J.
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| uniprot:date |
1995
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| uniprot:pages |
323-328
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| uniprot:title |
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
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| uniprot:volume |
29
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| dc-term:identifier |
doi:10.1006/geno.1995.9998
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