Isolation of an Active Human Transposable Element
- 20 December 1991
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 254 (5039), 1805-1808
- https://doi.org/10.1126/science.1662412
Abstract
Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VIII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.Keywords
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