Human Molecular Genetics, Vol 6, 981-990, Copyright © 1997 by Oxford University Press
T Yamaguchi, AG Motulsky and SS Deeb
We determined the genotypes of the X-chromosome-linked red/green color
vision genes by a novel PCR/SSCP-based method and assessed expression by
mRNA analysis in retinae of 51 unselected post mortem eye specimens from
Caucasian males of unknown color vision status. All individuals had a
single red (long-wave) pigment gene and one or more (an average of two)
green (middle-wave) pigment genes. Four males had 5'green-red3' hybrid
genes in addition to normal red and green pigment genes. These findings are
consistent with earlier studies on human visual pigment gene structure
using Southern blotting and with a recent study using pulsed-field
electrophoresis. We interpret claims of much larger numbers of red, green
and green-red hybrid genes to be technical artifacts. The ratio of
expressed red to green pigment retinal mRNA varied widely (1-10 with a mode
of 4) and was not correlated with that of red to green pigment genes. In
one individual with a green-red hybrid gene in addition to normal red and
green pigment genes, the normal red pigment gene and the hybrid gene were
both expressed, but the normal green gene was not. This person presumably
had deuteranomalous color vision. Two with green-red hybrid genes expressed
the normal red and green pigment genes, but not the hybrid genes. These two
individuals presumably had normal color vision. We interpret the failure to
express their green-red hybrid genes to be caused by their location at a
more distal position in the visual pigment gene array.
ARTICLES
Visual pigment gene structure and expression in human retinae
Department of Medicine, University of Washington, Seattle 98195, USA.
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