encodes a 599-amino acid protein containing several DNA-binding sites and 3 phosphorylation sites. The human and rat SPATA7 proteins share 77% sequence identity. Northern blot analysis of rat tissues showed testis-specific expression, which was first detected at postnatal day 30. Immunohistochemistry of rat testis localized SPATA7 to primary spermatocytes in early prophase of meiosis I.
Mutation analysis in additional patients revealed homozygosity for the same R108X mutation in a Dutch LCA patient as well as a frameshift mutation in another LCA patient of Middle Eastern origin; homozygosity for different nonsense and frameshift mutations in SPATA7 was also identified in 2 patients with juvenile retinitis pigmentosa.