A retrovirus-like element occurs between the 3' breakpoints of two large deletions in the human beta-globin gene cluster.
We have identified a novel repetitive family in human DNA. One member of this family is found downstream of the beta-globin gene cluster between the 3' breakpoints of the deletions associated with Chinese G gamma + (A gamma delta beta)O thalassemia and HPFH-2. This repetitive element is approximately 6 kbp in length and includes terminal direct repeats of 415 bp. Numerous DNA sequence features of the direct repeats (LTRs) and their flanking regions indicate that the element is a retrovirus-like structure. The most striking of these features is the presence of a histidine tRNA binding site just 3' to the 5' LTR. Accordingly the element is named RTVL-H (retrovirus-like element-histidine). The LTRs of the RTVL-H element are not strongly homologous to the LTRs of any previously described mammalian retrovirus or retrovirus-like element. Copy number estimates suggest that there are approximately 1000 RTVL-H elements in the human genome. The element found 3' (greater than 60 kbp) to the beta-globin gene appears to be a stable part of the normal genome. This retrovirus-like element is brought close to the fetal gamma-globin locus by the Chinese thalassemia deletion but is deleted in HPFH-1 and HPFH-2.
D L
DL
Mager
P S
PS
Henthorn
D001665:Binding Sites; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006801:Humans; D012346:RNA, Transfer, Amino Acyl / Q000378:metabolism; D012190:Retroviridae / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics
D012346:RNA, Transfer, Amino Acyl; D005914:Globins; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes