Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element
- PMID: 8393568
- PMCID: PMC46962
- DOI: 10.1073/pnas.90.14.6513
Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element
Abstract
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.
Similar articles
-
Isolation of an active human transposable element.Science. 1991 Dec 20;254(5039):1805-8. doi: 10.1126/science.1662412. Science. 1991. PMID: 1662412
-
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.Nature. 1988 Mar 10;332(6160):164-6. doi: 10.1038/332164a0. Nature. 1988. PMID: 2831458
-
Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements.Genomics. 1989 Apr;4(3):290-6. doi: 10.1016/0888-7543(89)90332-7. Genomics. 1989. PMID: 2497061
-
LINE-1 retrotransposons: modulators of quantity and quality of mammalian gene expression?Bioessays. 2005 Aug;27(8):775-84. doi: 10.1002/bies.20257. Bioessays. 2005. PMID: 16015595 Review.
-
Composite of A and F-type 5' terminal sequences defines a subfamily of mouse LINE-1 elements.J Mol Biol. 1991 Sep 20;221(2):367-73. doi: 10.1016/0022-2836(91)80057-2. J Mol Biol. 1991. PMID: 1920423 Review.
Cited by
-
LINE-1 retrotransposons contribute to mouse PV interneuron development.Nat Neurosci. 2024 Jul;27(7):1274-1284. doi: 10.1038/s41593-024-01650-2. Epub 2024 May 21. Nat Neurosci. 2024. PMID: 38773348 Free PMC article.
-
Emerging Opportunities to Study Mobile Element Insertions and Their Source Elements in an Expanding Universe of Sequenced Human Genomes.Genes (Basel). 2023 Oct 10;14(10):1923. doi: 10.3390/genes14101923. Genes (Basel). 2023. PMID: 37895272 Free PMC article. Review.
-
Transposons Acting as Competitive Endogenous RNAs: In-Silico Evidence from Datasets Characterised by L1 Overexpression.Biomedicines. 2022 Dec 17;10(12):3279. doi: 10.3390/biomedicines10123279. Biomedicines. 2022. PMID: 36552034 Free PMC article.
-
Transposable element-mediated rearrangements are prevalent in human genomes.Nat Commun. 2022 Nov 19;13(1):7115. doi: 10.1038/s41467-022-34810-8. Nat Commun. 2022. PMID: 36402840 Free PMC article.
-
Condensin I and condensin II proteins form a LINE-1 dependent super condensin complex and cooperate to repress LINE-1.Nucleic Acids Res. 2022 Oct 14;50(18):10680-10694. doi: 10.1093/nar/gkac802. Nucleic Acids Res. 2022. PMID: 36169232 Free PMC article.
References
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
- Actions
LinkOut - more resources
Full Text Sources
Other Literature Sources
Research Materials