Nature 343, 364 - 366 (25 January 1990); doi:10.1038/343364a0

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Thaddeus P. Dryja, Terri L. McGee, Elias Reichel, Lauri B. Hahn, Glenn S. Cowley, David W. Yandell, Michael A. Sandberg & Eliot L. Berson^*

Howe Laboratory of Ophthalmology and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts 02114, USA
^*To whom correspondence should be addressed

THE gene for autosomal dominant retinitis pigmentosa in a large pedigree of Irish origin has recently been found to be linked to an anonymous polymorphic sequence, D3S47 (C17), from the long arm of chromosome 3 (refs 1, 2). As the gene coding for rhodopsin is also assigned to the long arm of chromosome 3 (refs 3, 4) and is expressed in rod photoreceptors that are affected early in this blinding disease⁵, we searched for a mutation of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. We found a CA transversion in codon 23 (corresponding to a proline histidine substitution) in 17 of 148 unrelated patients and not in any of 102 unaffected individuals. This result, coupled with the fact that the proline normally present at position 23 is highly conserved among the opsins and related G-protein receptors⁶, indicates that this mutation could be the cause of one form of autosomal dominant retinitis pigmentosa.

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