Active human retrotransposons: variation and disease
نویسندگان
چکیده
منابع مشابه
Active Alu retrotransposons in the human genome.
Alu retrotransposons evolved from 7SL RNA approximately 65 million years ago and underwent several rounds of massive expansion in primate genomes. Consequently, the human genome currently harbors 1.1 million Alu copies. Some of these copies remain actively mobile and continue to produce both genetic variation and diseases by "jumping" to new genomic locations. However, it is unclear how many ac...
متن کاملMore active human L1 retrotransposons produce longer insertions.
The vast majority of L1 insertions are 5' truncated and thus inactive. Yet, the mechanism of 5' truncation is unknown. To examine whether the frequency of L1 retrotransposition is directly correlated with the length of genomic L1 insertions, we used a cell culture assay to measure retrotransposition frequency and a PCR-based assay to measure L1 insertion length. We tested five full-length human...
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Retrotransposons like L1 are silenced in somatic cells by a variety of mechanisms acting at different levels. Protective mechanisms include DNA methylation and packaging into inactive chromatin to suppress transcription and prevent recombination, potentially supported by cytidine deaminase editing of RNA. Furthermore, DNA strand breaks arising during attempted retrotranspositions ought to activ...
متن کاملTwo additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element.
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 ful...
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Parkinson's disease (PD) is a chronic neurodegenerative disorder with multifactorial etiology. In the past decade, the genetic causes of monogenic forms of familial PD have been defined. However, the etiology and pathogenesis of the majority of sporadic PD cases that occur in outbred populations have yet to be clarified. The recent development of resources such as the International HapMap Proje...
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ژورنال
عنوان ژورنال: Current Opinion in Genetics & Development
سال: 2012
ISSN: 0959-437X
DOI: 10.1016/j.gde.2012.02.006