Two distinct truncated variants of ankyrin associated with hereditary spherocytosis
S. Hayette
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorG. Carré
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorM. Bozon
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorN. Alloisio
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorP. Maillet
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Fédération de Biochimie, Unité Fonctionnelle 468, Hôpital Edouard Herriot, Lyon, France
Search for more papers by this authorR. Wilmotte
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorO. Pascal
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Nantes, Nantes, France
Search for more papers by this authorJ. Reynaud
Laboratoire d'Hématologie, Hôpital Nord, Saint-Etienne, France
Search for more papers by this authorO. Reman
Service d'Hématologie Clinique, Centre Hospitalier Universitaire, Caen, France
Search for more papers by this authorJ.-L. Stéphan
Unité d'Hématologie et d'Oncologie Pédiatrique, Hôpital Nord, Saint Etienne, France
Search for more papers by this authorCorresponding Author
L. Morlé
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Génétique Moléculaire Humaine, CGMC, Bâtiment 741, Université Claude-Bernard Lyon-I, 43 Boulevard du 11 Novembre 1918, 69622 Villeurbanne Cedex, FranceSearch for more papers by this authorJ. Delaunay
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorS. Hayette
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorG. Carré
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorM. Bozon
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorN. Alloisio
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorP. Maillet
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Fédération de Biochimie, Unité Fonctionnelle 468, Hôpital Edouard Herriot, Lyon, France
Search for more papers by this authorR. Wilmotte
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorO. Pascal
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Nantes, Nantes, France
Search for more papers by this authorJ. Reynaud
Laboratoire d'Hématologie, Hôpital Nord, Saint-Etienne, France
Search for more papers by this authorO. Reman
Service d'Hématologie Clinique, Centre Hospitalier Universitaire, Caen, France
Search for more papers by this authorJ.-L. Stéphan
Unité d'Hématologie et d'Oncologie Pédiatrique, Hôpital Nord, Saint Etienne, France
Search for more papers by this authorCorresponding Author
L. Morlé
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Génétique Moléculaire Humaine, CGMC, Bâtiment 741, Université Claude-Bernard Lyon-I, 43 Boulevard du 11 Novembre 1918, 69622 Villeurbanne Cedex, FranceSearch for more papers by this authorJ. Delaunay
Laboratoire de Génétique Moléculaire Humaine, CNRS URA 1171, Institut Pasteur de Lyon, Lyon, France
Search for more papers by this authorAbstract
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. Am. J. Hematol. 58:36–41, 1998. © 1998 Wiley-Liss, Inc.
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