Genetics

Second Sightings

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Science  21 Sep 2001:
Vol. 293, Issue 5538, pp. 2171-2173
DOI: 10.1126/science.293.5538.2171e

The inherited disorder retinitis pigmentosa (RP) affects 1 in 4000 individuals and is characterized by progressive degeneration of the photoreceptor cells in the retina. Patients with this disorder commonly develop tunnel vision and night blindness, which can then progress to complete blindness. Although RP is genetically heterogeneous, several of the loci have been identified as genes involved in the phototransduction pathway.

In an appealing convergence of concept, researchers now report that two of the genes responsible for autosomal dominant RP encode putative pre-messenger RNA (mRNA) splicing factors: proteins that are needed to make mature mRNA. McKie et al. show that the culprit gene on chromosome 17p13.3 (RP13) encodes an ortholog of yeast splicing factor PRP8, and Vithana et al. show that the culprit gene on chromosome 19q13.4 (RP11) encodes an ortholog of yeast splicing factor PRP31. Why defects in a fundamental housekeeping function such as splicing would affect only the retina and not other tissues is unclear, but the authors note that the retina is one of the fastest metabolizing tissues in the body and may be particularly vulnerable when splicing is disrupted. — PAK

Hum. Mol. Genet. 10, 1555 (2001); Mol. Cell8, 375 (2001).

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