Science. 1991 Dec 20;254(5039):1805-8.

Isolation of an active human transposable element.

Dombroski BA, Mathias SL, Nanthakumar E, Scott AF, Kazazian HH Jr.

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Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

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.

PMID:: 1662412; [PubMed - indexed for MEDLINE]

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