The spermatogenesis-associated protein-7 (SPATA7) gene - an overview

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 theSPATA7gene were selected for review. Results TheSPATA7locus was mapped asLCA3to chromosome 13, 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 inSPATA7-associated disease, and phenotypic heterogeneity occurs among patients with the same mutation. The SPATA7 protein is expressed in the photoreceptor connecting cilia. Murine models ofSpata7knockout 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 theSPATA7are nonsense or frameshifts and are predicted to lead to loss of function. Clinical heterogeneity is often seen in patients withSPATA7mutations. Animal models ofSPATA7knockout indicate that the protein has a key role in organizing the ciliary protein complexes.