Isolation of an active human transposable element

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

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • Chromosomes, Human, Pair 22
  • DNA Transposable Elements*
  • Factor VIII / genetics*
  • Genome, Human
  • Hemophilia A / genetics*
  • Humans
  • Molecular Sequence Data
  • Open Reading Frames
  • Restriction Mapping
  • Sequence Homology, Nucleic Acid
  • X Chromosome

Substances

  • DNA Transposable Elements
  • Factor VIII