Gene conversion between red and defective green opsin gene in blue cone monochromacy.
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.
Reyniers
E
E
Department of Medical Genetics, University of Antwerp, Belgium.
Van Thienen
M N
MN
Meire
F
F
De Boulle
K
K
Devries
K
K
Kestelijn
P
P
Willems
P J
PJ
D001483:Base Sequence; D002874:Chromosome Mapping; D003118:Color Perception / Q000235:genetics; D003117:Color Vision Defects / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005785:Gene Conversion; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017949:Retinal Cone Photoreceptor Cells / Q000503:physiopathology*; D017299:Rod Opsins / Q000235:genetics*; D014960:X Chromosome
D017931:DNA Primers; D017299:Rod Opsins; C095855:long-wavelength opsin; C095854:middle-wavelength opsin