Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element.
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.
Dombroski
B A
BA
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Scott
A F
AF
Kazazian
H H
HH
D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D004251:DNA Transposable Elements / Q000235:genetics*; D005260:Female; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
D004251:DNA Transposable Elements