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Volume 272, Number 31, Issue of August 1, 1997 pp. 19220-19228
©1997 by The American Society for Biochemistry and Molecular Biology, Inc.

Structure and Organization of the Human Ankyrin-1 Gene
BASIS FOR COMPLEXITY OF PRE-mRNA PROCESSING

(Received for publication, April 3, 1997)

Patrick G. Gallagher , William T. Tse , Alphonse L. Scarpa ^** , Samuel E. Lux and Bernard G. Forget ^**

From the Departments of  Pediatrics,  Genetics, and ^** Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06510 and the  Division of Hematology/Oncology, Children's Hospital, and Dana Farber Cancer Institute, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115

Ankyrin-1 (ANK-1) is an erythrocyte membrane protein that is defective in many patients with hereditary spherocytosis, a common hemolytic anemia. In the red cell, ankyrin-1 provides the primary linkage between the membrane skeleton and the plasma membrane. To gain additional insight into the structure and function of this protein and to provide the necessary tools for further genetic studies of hereditary spherocytosis patients, we cloned the human ANK-1 chromosomal gene. Characterization of the ANK-1 gene genomic structure revealed that the erythroid transcript is composed of 42 exons distributed over ~160 kilobase pairs of DNA. Comparison of the genomic structure with the protein domains reveals a near-absolute correlation between the tandem repeats encoding the membrane-binding domain of ankyrin with the location of the intron/exon boundaries in the corresponding part of the gene. Erythroid stage-specific, complex patterns of alternative splicing were identified in the region encoding the regulatory domain of ankyrin-1. Novel brain-specific transcripts were also identified in this region, as well as in the "hinge" region between the membrane-binding and spectrin-binding domains. Utilization of alternative polyadenylation signals was found to be the basis for the previously described, stage-specific 9.0- and 7.2-kilobase pair transcripts of the ANK-1 gene.

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