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Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (Articolo in rivista)

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Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (Articolo in rivista) (literal)

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Conte I, Lestingi M., Den Hollander A., Miano M.G., Alfano G., Circolo D., Pugliese M., Testa F., Simonelli F., Rinaldi E., Baiget M., Banfi S., Ciccodicola A. (2002)
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
in Gene (Amst.); North Holland Pub. Co., Amsterdam (Paesi Bassi)
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Conte I, Lestingi M., Den Hollander A., Miano M.G., Alfano G., Circolo D., Pugliese M., Testa F., Simonelli F., Rinaldi E., Baiget M., Banfi S., Ciccodicola A. (literal)

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Identificazione e caratterizzazione di un nuovo gene espresso prevalentemente nella retina umana e possibile candidato come responsabile di degenerazione retinica nell'uomo. (literal)

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Contea, b, Lestingia, den Hollanderc, Mianob, Alfanoa, Circoloa, Pugliesea, Testad, Simonellid, Rinaldid, Baigete, Sandro Banfia and Alfredo Ciccodicolab a Telethon Inst of Genetics and Medicine (TIGEM), Italy b Inst of Genetics and Biophysics A. Buzzati-Traverso (IGB), CNR, Italy c Dept of Human Genetics, Univ Medical Center , Nijmegen, The, Netherlands d Dep of Ophthalmol, II University of Naples,Italy e Hospital de la Santa Creu i Sant Pau, Barcelona, Spain (literal)

Titolo

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (literal)

Abstract

Membrane-associated guanylate kinase (MAGUK) proteins are cell-cell contact organizing molecules that mediate targeting, clustering and anchoring of proteins at synapses and other cell junctions. MAGUK proteins may contain multiple protein-protein interaction motifs including PDZ, SH3 and guanylate kinase (GuK) domains. In this study, we performed a detailed analysis of the expression pattern of MPP4, a recently described member of the MAGUK protein family. We confirmed that this gene is highly expressed in retina, and demonstrate that it is also present, at lower levels, in brain. We identified a new retina specific isoform encoding a predicted protein lacking 71 amino acids. This protein region contains a newly identified L27 domain, another module playing a role in protein-protein interaction. By RNA in situ hybridization, Mpp4 expression was found to be localized to photoreceptor cells in postnatal retina. The MPP4 gene is localized to chromosome 2, in band 2q31-33, where a locus for autosomal recessive retinitis pigmentosa (RP26) has been mapped. Mutation analysis of the entire open reading frame of the MPP4 gene in a RP26 family revealed no pathologic mutations. In addition, we did not identify mutations in a panel of 300 unrelated patients with retinitis pigmentosa. (literal)

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