A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis

Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene expression. De novo integration into specific genes has been described in both germ and somatic cells. We...

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Bibliographic Details
Published in:The Journal of clinical investigation 1994-08, Vol.94 (2), p.643-648
Main Authors: Hassoun, H, Coetzer, T L, Vassiliadis, J N, Sahr, K E, Maalouf, G J, Saad, S T, Catanzariti, L, Palek, J
Format: Article
Language:English
Subjects:
Base Sequence
Blotting, Southern
DNA Transposable Elements
elliptocytosis
Elliptocytosis, Hereditary - genetics
exon skipping
Humans
man
Molecular Sequence Data
Mutation
spectrin
Spectrin - genetics
transposons
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Summary:Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene expression. De novo integration into specific genes has been described in both germ and somatic cells. We report a family with hereditary elliptocytosis and pyropoikilocytosis associated with a truncated alpha-spectrin protein. We present the biochemical characteristics of this abnormal protein and show that the alpha-spectrin gene is disrupted by a mobile element resulting in exon skipping. This element causes duplication of the insertion site and is terminated by a long poly-A tail downstream of multiple consensus polyadenylation signals. Southern blot analysis of human genomic DNA, using this element as probe, reveals one to three copies per individual. This element has no homology to any previously reported sequence and therefore appears to be a member of a novel family of mobile elements.
ISSN:0021-9738
DOI:10.1172/JCI117380