Mutations in rhodopsin

The gene locus for rhodopsin (RHO) in man lies
on the long arm of chromosome 3 in region 2,
band 1.4 (3q21.4). Dominant and autosomal recessive
inherited mutations have been demonstrated
in humans. Most mutations lead to the
exchange of an amino acid, although deletions
may also occur. Of the 348 amino acids of
rhodopsin, 38 are identical (invariant) at
various positions in vertebrates. More than 100
different mutations are known for autosomal
dominant inherited RP. An increasing number
of mutations are recognized to cause autosomal
recessive RP. In addition, mutations in several
other gene loci have been recognized to lead to
retinitis pigmentosa, e. g. mutations in the gene
for peripherin on the short arm of chromosome
6 in humans (6p) and a locus in the centromeric
region of chromosome 8. Other photoreceptor
gene disease loci are the ! and " subunits of
phosphodiesterase (PDE).