Among the 10(5) LINE-1 sequences (L1Hs) in the human genome are one or
more 6-kb segments that are active retrotransposons. Expression of th
ese retrotransposons appears to be favored in cells of germ line origi
n, as well as in some other tumor cells of epithelial origin. In such
cells, the product of the first L1Hs open reading frame (ORF), a prote
in called p40, is detectable; p40 has no apparent similarity to gag pr
oteins, but contains a leucine zipper region which may be responsible
for the occurrence of p40 multimers. Transcription of L1Hs initiates a
t residue 1 although the transcriptional regulatory regions are downst
ream in the first 670 bp of the 5' untranslated region; deletion of a
YY1-binding site in the first 20 bp reduces transcription by fivefold.
Translation of the second ORF, which encodes reverse transcriptase, i
s independent of the translation of the frame encoding p40.