Molecular Biology and Evolution, Vol 4, 327-342, Copyright © 1987 by Society for Molecular Biology and Evolution
PK Rogan, J Pan and SM Weissman
We have deduced the sequence of a composite long interspersed repeated DNA
in primates and herein describe its relationship to a complex repeat
element (L1Heg) located in the interval linking the human epsilon- and G
gamma-globin genes. The main element of L1Heg is 3' truncated and
interrupted by the insertion of the 3' end of a second L1 element.
Transposition of L1Heg into this intergenic locus generated a 62-bp
duplication of flanking sequences. In contrast, insertion of the second
repeat may have been mediated by homology between donor and target
sequences. The main repeat represents a novel class of abundant elements
whose sequences have diverged from other rodent and primate LINES
approximately 1.3 kb downstream from the 5' terminus of L1Heg. Comparison
of L1Heg with the sequences of two other related L1 members revealed a
complex set of rearrangements confined within a region that resembles the
long terminal repeats of other types of retroposons. The boundaries of
conversion-like events were defined on the basis of the clustering of
nucleotide sequence variants common to two or more nonallelic 3' L1H
elements. Several of these events are apparently initiated or resolved
within a common 150-bp region that coincides with the 3' terminus of a
pan-mammalian open reading frame. This analysis showed that concerted
genetic interactions and random drift both contribute appreciably to
sequence variation within this set of L1H members.
ORIGINAL ARTICLE
L1 repeat elements in the human epsilon-G gamma-globin gene intergenic region: sequence analysis and concerted evolution within this family
Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine.
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