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| A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN ONE FORM OF RETINITIS-PIGMENTOSA |
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| Author(s): FARRAR GJ, KENNA P, JORDAN SA, KUMARSINGH R, HUMPHRIES MM, SHARP EM, SHEILS DM, HUMPHRIES P |
| Source: NATURE Volume: 354 Issue: 6353 Pages: 478-480 Published: DEC 12 1991 |
| Times Cited: 303 References: 17 |
| Abstract: THE group of retinopathies termed retinitis pigmentosa (RP) greatly contribute to visual dysfunction in man with a frequency of roughly 1 in 4,000 (refs 1, 2). We mapped the first autosomal dominant RP (adRP) gene to chromosome 3q (refs 3, 4), close to the gene encoding rhodopsin, a rod photoreceptor pigment protein. Subsequently, mutations in this gene have been implicated as responsible for some forms of adRP 5-9. Another adRP gene has been mapped to chromosome 8p (ref. 10). A third adRP gene in a large Irish pedigree has been mapped to chromosome 6p (refs 11, 12), showing tight linkage with the gene for peripherin 13,14, a photoreceptor cell-specific glycoprotein, which is thus a strong candidate for the defective gene. We have now identified a three-base-pair deletion which results in the loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin. This deletion segregates with the disease phenotype but is not present in unaffected controls, and suggests that mutant peripherin gives rise to retinitis pigmentosa. |
| Document Type: Article |
| Language: English |
| Reprint Address: FARRAR, GJ (reprint author), UNIV DUBLIN TRINITY COLL, DEPT GENET, LINCOLN PL GATE, DUBLIN 2, IRELAND |
| Publisher: MACMILLAN MAGAZINES LTD, 4 LITTLE ESSEX STREET, LONDON, ENGLAND WC2R 3LF |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: GV078 |
| ISSN: 0028-0836 |
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