ABSTRACT

Background

The spermatogenesis-associated protein-7 (SPATA7) gene encodes a ciliary protein that is expressed in the photoreceptors and in spermatocytes. Mutations in the SPATA7 gene are associated with congenital and early-onset forms of retinal dystrophy.

Methods

Papers and review articles on SPATA7 were retrieved from the PubMed database using the search terms “SPATA7” and “spermatogenesis-associated protein 7”. Those that were relevant to retinal disease or to the function of the SPATA7 gene were selected for review.

Results

The SPATA7 locus was mapped as LCA3 to chromosome 14, and the gene identified by screening of all genes in the refined genomic interval. Mutations in SPATA7 are associated with Leber congenital amaurosis (LCA) and early-onset retinitis pigmentosa. There are no clear-cut correlations between the genotypes and phenotypes in SPATA7-associated disease, and phenotypic heterogeneity occurs among patients with the same mutation. The SPATA7 protein is expressed in the photoreceptor connecting cilia. Murine models of Spata7 knockout have been useful in understanding the role of this gene in the retina at the cellular and molecular levels.

Conclusion

Most of the mutations in the SPATA7 are nonsense or frameshifts and are predicted to lead to loss of function. Clinical heterogeneity is often seen in patients with SPATA7 mutations. Animal models of SPATA7 knockout indicate that the protein has a key role in organizing the ciliary protein complexes.

中文翻译：

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精子发生相关蛋白7（SPATA7）基因-概述。

摘要

背景

精子发生相关蛋白7（SPATA7）基因编码在感光细胞和精细胞中表达的睫状蛋白。SPATA7基因的突变与视网膜营养不良的先天性和早发形式有关。

方法

使用搜索词“ SPATA7”和“精子发生相关蛋白7”从PubMed数据库检索有关SPATA7的论文和评论文章。选择与视网膜疾病或与SPATA7基因功能有关的那些基因进行审查。

结果

将SPATA7基因座定位为LCA3到14号染色体，并通过筛选精细基因组间隔中的所有基因来鉴定该基因。SPATA7中的突变与莱伯先天性黑睡病（LCA）和早发性视网膜色素变性有关。在与SPATA7相关的疾病中，基因型和表型之间没有明确的相关性，并且在具有相同突变的患者中发生表型异质性。SPATA7蛋白在连接纤毛的感光细胞中表达。Spata7基因敲除的小鼠模型在细胞和分子水平上了解该基因在视网膜中的作用非常有用。

结论

SPATA7中的大多数突变都是无意义的或移码的，预计会导致功能丧失。临床异质性经常见于具有SPATA7突变的患者。SPATA7基因敲除的动物模型表明，该蛋白在组织睫状蛋白复合物中具有关键作用。