A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

Susan E. Holmes, Beth A. Dombroski, Claudia M. Krebs, Corinne D. Boehm, Haig H. Kazazian

Research output: Contribution to journalArticle

Abstract

We have found a 2 kilobase insertion containing a rearranged L1 element in the dystrophin gene of a muscular dystrophy patient. We cloned the precursor of this insertion, the second known active human L1 element. The locus, LRE2, has one allele derived from the patient which matches the insertion sequence exactly. LRE2 has a perfect 13-15 bp target site duplication, two open reading frames, and an unusual 21 bp truncation of the 5' end, suggesting that a slightly truncated element can still retrotranspose. It differs from LRE1 by ~0.7%. There is an L1 element at LRE2 on ~66% of human chromosomes 1q, and the element is absent from chimpanzee and gorilla genomes. These data demonstrate that multiple active L1 elements exist in the human genome, and that a readthrough transcript of an active element is capable of retrotransposition.

Original languageEnglish (US)
Pages (from-to)143-148
Number of pages6
JournalNature genetics
Volume7
Issue number2
DOIs
StatePublished - Jun 1 1994

ASJC Scopus subject areas

  • Genetics

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