Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element

Beth A. Dombroski, Alan F Scott, Haig Kazazian

Research output: Contribution to journalArticle


We have previously reported the isolation of a human retrotransposable L1 element. This element, allele L1.2B at the LRE-1 locus of chromosome 22, was shown by nucleotide sequence identity to be the direct precursor of a de novo retrotransposition event into the factor VIII gene on the X chromosome, resulting in hemophilia A in patient JH-27. We now report the isolation of the two remaining full-length members of the subfamily of L1 elements closely related to L1.2B present in the genome of the mother of JH-27. Since these elements, L1.3 and L1.4, are very similar in sequence to L1.2B and contain both open reading frames 1 and 2 intact, they are also likely to be active retrotransposable elements. This suggests that certain L1 subfamilies may contain multiple active elements.

Original languageEnglish (US)
Pages (from-to)6513-6517
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number14
Publication statusPublished - Jul 15 1993


ASJC Scopus subject areas

  • General
  • Genetics

Cite this