Hayette S, Carré G, Bozon M, Alloisio N, Maillet P, Wilmotte R, Pascal O, Reynaud J, Reman O, Stéphan J L, Morlé L, Delaunay J
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, France.
Am J Hematol. 1998 May;58(1):36-41. doi: 10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co;2-1.
We present two distinct truncated variants of ankyrin associated with mild to moderate hereditary spherocytosis. Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 39: TGG-->TGA; W1721X. Ankyrin Saint-Etienne 2 appeared as two faint bands underlining bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 41: CGA-->TGA; R1833X. Overall ankyrin was diminished in splenectomized patients. Messenger RNAs Saint-Etienne 1 and 2 amounted to 20 and 37% of the total ankyrin mRNA, respectively. Ankyrin molecules truncated in their C-terminal region retain some ability to bind to the membrane whereas the bulk of nonsense mutations, located in more upstream regions, result in the mere disappearance of one haploid set of ankyrin. In the present cases, it was not possible to apportion the roles of ankyrin reduction and truncation in the pathogenesis of hereditary spherocytosis.
我们展示了与轻度至中度遗传性球形红细胞增多症相关的两种不同的锚蛋白截短变体。圣艾蒂安1型锚蛋白表现为位于2.1带和2.2带之间的一条额外条带。它与第39外显子的一个无义突变相关：TGG→TGA；W1721X。圣艾蒂安2型锚蛋白表现为位于2.1带和2.2带下方的两条 faint 条带。它与第41外显子的一个无义突变相关：CGA→TGA；R1833X。总体而言，脾切除患者的锚蛋白减少。圣艾蒂安1型和2型信使核糖核酸分别占总锚蛋白信使核糖核酸的20%和37%。在其C末端区域截短的锚蛋白分子仍保留一些与膜结合的能力，而位于更上游区域的大部分无义突变仅导致一组单倍体锚蛋白消失。在目前的病例中，无法区分锚蛋白减少和截短在遗传性球形红细胞增多症发病机制中的作用。
