Two distinct truncated variants of ankyrin associated with hereditary spherocytosis
| العنوان: | Two distinct truncated variants of ankyrin associated with hereditary spherocytosis |
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| المؤلفون: | J.-L. Stéphan, S. Hayette, O. Pascal, M. Bozon, Nicole Alloisio, J. Reynaud, J. Delaunay, Oumedaly Reman, R. Wilmotte, P. Maillet, L Morle, Geneviève Carré |
| المصدر: | American Journal of Hematology. 58:36-41 |
| بيانات النشر: | Wiley, 1998. |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | Genetics, chemistry.chemical_classification, Messenger RNA, animal structures, fungi, Nonsense mutation, Hematology, Biology, medicine.disease, Hereditary spherocytosis, Pathogenesis, Exon, chemistry, ANK1, medicine, Ankyrin, Ankyrin repeat |
| الوصف: | 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. |
| تدمد: | 1096-8652 0361-8609 |
| DOI: | 10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co;2-1 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::f6bcc55832264e610abfe0f4b614b13d https://doi.org/10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co;2-1 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi...........f6bcc55832264e610abfe0f4b614b13d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968652 03618609 |
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| DOI: | 10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co;2-1 |