title: Isolation of an active human transposable element.
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.
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
authors.forename: B A
authors.initials: BA
authors.lastname: Dombroski
authors.forename: S L
authors.initials: SL
authors.lastname: Mathias
authors.forename: E
authors.initials: E
authors.lastname: Nanthakumar
authors.forename: A F
authors.initials: AF
authors.lastname: Scott
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002892:Chromosomes, Human, Pair 22; D004251:DNA Transposable Elements; D005169:Factor VIII / Q000235:genetics*; D015894:Genome, Human; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D014960:X Chromosome
chemical_list: D004251:DNA Transposable Elements; D005169:Factor VIII