Kohlhase J, Altmann M, Archangelo L, Dixkens C, Engel W
Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, D-37073 Göttingen, Germany.
Mamm Genome. 2000 Jan;11(1):64-8. doi: 10.1007/s003350010012.
Mutations of SALL1 related to spalt of Drosophila have been found to cause Townes-Brocks syndrome, suggesting a function of SALL1 for the development of anus, limbs, ears, and kidneys. No function is yet known for SALL2, another human spalt-like gene. The structure of SALL2 is different from SALL1 and all other vertebrate spalt-like genes described in mouse, Xenopus, and Medaka, suggesting that SALL2-like genes might also exist in other vertebrates. Consistent with this hypothesis, we isolated and characterized a SALL2 homologous mouse gene, Msal-2. In contrast to other vertebrate spalt-like genes both SALL2 and Msal-2 encode only three double zinc finger domains, the most carboxyterminal of which only distantly resembles spalt-like zinc fingers. The evolutionary conservation of SALL2/Msal-2 suggests that two lines of sal-like genes with presumably different functions arose from an early evolutionary duplication of a common ancestor gene. Msal-2 is expressed throughout embryonic development but also in adult tissues, predominantly in brain. However, the function of SALL2/Msal-2 still needs to be determined.
已发现与果蝇spalt相关的SALL1突变会导致汤姆斯-布罗克斯综合征，这表明SALL1在肛门、四肢、耳朵和肾脏的发育中发挥作用。另一个人类spalt样基因SALL2的功能尚不清楚。SALL2的结构与SALL1以及在小鼠、非洲爪蟾和青鳉中描述的所有其他脊椎动物spalt样基因不同，这表明SALL2样基因可能也存在于其他脊椎动物中。与这一假设一致，我们分离并鉴定了一个SALL2同源小鼠基因Msal-2。与其他脊椎动物spalt样基因不同，SALL2和Msal-2都仅编码三个双锌指结构域，其中最羧基末端的结构域仅与spalt样锌指有远缘相似性。SALL2/Msal-2的进化保守性表明，两条功能可能不同的sal样基因系源自一个共同祖先基因的早期进化复制。Msal-2在整个胚胎发育过程中都有表达，但在成年组织中也有表达，主要在大脑中。然而，SALL2/Msal-2的功能仍有待确定。
