Genetic heterogeneity among blue-cone monochromats
American journal of human genetics, 1993•ncbi.nlm.nih.gov
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of
blue-cone monochromacy were examined for rearrangements in the tandem array of genes
encoding the red-and green-cone pigments. In 24 subjects, eight genotypes were found that
would be predicted to eliminate the function of all of the genes within the array. As observed
in an earlier study, the rearrangements involve either deletion of a locus control region
adjacent to the gene array or loss of function via homologous recombination and point …
blue-cone monochromacy were examined for rearrangements in the tandem array of genes
encoding the red-and green-cone pigments. In 24 subjects, eight genotypes were found that
would be predicted to eliminate the function of all of the genes within the array. As observed
in an earlier study, the rearrangements involve either deletion of a locus control region
adjacent to the gene array or loss of function via homologous recombination and point …
Abstract
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red-and green-cone pigments. In 24 subjects, eight genotypes were found that would be predicted to eliminate the function of all of the genes within the array. As observed in an earlier study, the rearrangements involve either deletion of a locus control region adjacent to the gene array or loss of function via homologous recombination and point mutation. One inactivating mutation, Cys 203-to-Arg, was found in 15 probands who carry single genes and in both visual pigment genes in one subject whose array has two genes. This mutation was also found in at least one of the visual pigment genes in 1 subject whose array has multiple genes and in 2 of 321 control subjects, suggesting that preexisting Cys 203-to-Arg mutations constitute a reservoir of chromosomes that are predisposed to generate blue-cone-monochromat genotypes by unequal homologous recombination and/or gene conversion. Two other point mutations were identified:(a) Arg 247-to-Ter in one subject with a single red-pigment gene and (b) Pro 307-to-Leu in one subject with a single 5'red-3'green hybrid gene. The observed heterogeneity of genotypes points to the existence of multiple one-and two-step mutational pathways to blue-cone monochromacy.
ncbi.nlm.nih.gov
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