Montini E, Rugarli E I, Van de Vosse E, Andolfi G, Mariani M, Puca A A, Consalez G G, den Dunnen J T, Ballabio A, Franco B
Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy.
Hum Mol Genet. 1997 Jul;6(7):1137-45. doi: 10.1093/hmg/6.7.1137.
Through our transcriptional mapping effort in the Xp22 region, we have isolated by exon trapping a new transcript highly homologous to the Drosophila retinal degeneration C (rdgC) gene. rdgC encodes a serine/threonine phosphatase protein and is required in Drosophila to prevent light-induced retinal degeneration. This human gene is the first mammalian member of the serine-threonine phosphatase with EF hand motif gene family, and was thus named PPEF (Protein Phosphatase with EF calcium-binding domain). The expression pattern of the mouse Ppef gene was studied by RNA in situ hybridization on embryonic tissue sections. While rdgC is expressed in the visual system of the fly, as well as in the mushroom bodies of the central brain, we found that Ppef is highly expressed in sensory neurons of the dorsal root ganglia (DRG) and neural crest-derived cranial ganglia. The selective pattern of expression makes PPEF an important marker for sensory neuron differentiation and suggests a role for serine-threonine phosphatases in mammalian development.
通过我们在Xp22区域的转录图谱研究工作，我们利用外显子捕获技术分离出了一个与果蝇视网膜变性C（rdgC）基因高度同源的新转录本。rdgC编码一种丝氨酸/苏氨酸磷酸酶蛋白，在果蝇中是防止光诱导视网膜变性所必需的。这个人类基因是具有EF手基序的丝氨酸-苏氨酸磷酸酶基因家族的首个哺乳动物成员，因此被命名为PPEF（具有EF钙结合结构域的蛋白磷酸酶）。通过对胚胎组织切片进行RNA原位杂交，研究了小鼠Ppef基因的表达模式。虽然rdgC在果蝇的视觉系统以及中枢脑的蘑菇体中表达，但我们发现Ppef在背根神经节（DRG）的感觉神经元和神经嵴衍生的颅神经节中高度表达。这种选择性的表达模式使PPEF成为感觉神经元分化的重要标志物，并提示丝氨酸-苏氨酸磷酸酶在哺乳动物发育中发挥作用。
