Ba. Dombroski et al., 2 ADDITIONAL POTENTIAL RETROTRANSPOSONS ISOLATED FROM A HUMAN L1 SUBFAMILY THAT CONTAINS AN ACTIVE RETROTRANSPOSABLE ELEMENT, Proceedings of the National Academy of Sciences of the United Statesof America, 90(14), 1993, pp. 6513-6517
We have previously reported the isolation of a human retrotransposable
L1 element. This element, allele L1.2B at the LRE-1 locus of chromoso
me 22, was shown by nucleotide sequence identity to be the direct prec
ursor of a de novo retrotransposition event into the factor VIII gene
on the X chromosome, resulting in hemophilia A in patient JH-27. We no
w report the isolation of the two remaining full-length members of the
subfamily of L1 elements closely related to L1.2B present in the geno
me of the mother of JH-27. Since these elements, L1.3 and L1.4, are ve
ry similar in sequence to L1.2B and contain both open reading frames 1
and 2 intact, they are also likely to be active retrotransposable ele
ments. This suggests that certain L1 subfamilies may contain multiple
active elements.