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.
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
B A
BA
Dombroski
A F
AF
Scott
H H
HH
Kazazian
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