Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1):: a novel candidate for retinal degenerations
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1):: a novel candidate for retinal degenerations
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DOI：
10.1038/sj.ejhg.5200942
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发表时间：
2003-02-01
影响因子：
5.2
通讯作者：
Banfi, S
中科院分区：
文献类型：
--
作者：
Conte, I;Lestingi, M;Banfi, S
色素性视网膜炎（RP）是遗传性视网膜病变最常见的形式，全球发病率约为3700人中有1人。视网膜色素变性1 （RP1）基因突变导致约5-10%的常染色体显性RP病例。RP1基因在出生后视网膜的光感受器层中特异性表达，并编码一种预测蛋白，其特征是存在两个双皮质素（DC）结构域，已知与微管结合有关。我们在人类和小鼠中鉴定并表征了一种新的哺乳动物基因，称为视网膜色素变性1-like1 (RP1L1)，因为它与RP1基因产物具有显著的序列相似性。RP1与RP1L1的序列同源性主要局限于DC结构域和n端区域，包括前350个氨基酸。RP1L1基因在遥远的脊椎动物中也被发现是保守的，因为我们在河豚中发现了一个同源基因。与RP1类似，通过半定量逆转录- pcr和Northern分析确定，RP1L1的表达仅限于出生后的视网膜。视网膜特异性表达和与RP1的序列相似性使RP1L1成为遗传性视网膜疾病的潜在候选者。
Retinitis pigmentosa (RP) is the most common form of inherited retinopathy, with an approximate incidence of 1 in 3700 individuals worldwide. Mutations in the retinitis pigmentosa 1 (RP1) gene are responsible for about 5-10% cases of autosomal dominant RP. The RP1 gene is specifically expressed in the photoreceptor layers of the postnatal retina and encodes a predicted protein characterised by the presence of two doublecortin (DC) domains, known to be implicated in microtubule binding. We identified and characterised, both in human and in mouse, a novel mammalian gene, termed Retinitis Pigmentosa1-like1 (RP1L1), because of its significant sequence similarity to the RP1 gene product. The sequence homology between RP1 and RP1L1 was found to be mostly restricted to the DC domains and to the N-terminal region, including the first 350 amino acids. The RP1L1 gene was also found to be conserved in distant vertebrates, since we identified a homologue in Fugu rubripes (pufferfish). Similar to RP1, RP1L1 expression is restricted to the postnatal retina, as determined by semiquantitative reverse transcriptase-PCR and Northern analysis. The retina-specific expression and the sequence similarity to RP1 render RP1L1 a potential candidate for inherited retinal disorders.