LINE-1 (L1) elements are a class of transposons, comprising approximately 19% and 21% of the mouse and human genomes, respectively. L1 retrotransposons can reverse transcribe their own RNA sequence into a de novo DNA copy integrated into a new genomic location. This activity, known as retrotransposition, may induce genomic alterations, such as insertions and deletions. Interestingly, L1s can retrotranspose and generate more de novo L1 copies in brains than in other somatic tissues. Here, we describe for the first time interchromosomal translocation triggered by ectopic L1 retrotransposition in neural progenitor cells. Such an observation adds to the studies in neurological and psychiatric diseases that exhibited variation in L1 activity between diseased brains compared with controls, suggesting that L1 activity could be detrimental when de-regulated.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9936793 | PMC |
| http://dx.doi.org/10.1590/1678-4685-GMB-2022-0268 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Separation of function mutants underline multiple roles of the Srs2 helicase/translocase in break-induced replication in .
MicroPubl Biol
November 2024
Dipartimento di Bioscienze, University of Milan, Milan, Lombardy, Italy.
All cells are commonly exposed to DNA double-strand breaks (DSBs), which must be properly repaired to avoid genomic instability. Break-Induced Replication (BIR) is a Homologous Recombination subpathway, which repairs DSBs resulting in mutagenesis, chromosome translocations and loss of heterozygosity. In budding yeast, the Srs2 DNA helicase/translocase plays both anti- and pro-recombination roles.
View Article and Find Full Text PDFResolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Am J Hum Genet
December 2024
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:
Article Synopsis
- Researchers tackled the challenge of studying structural variants (SVs) in repetitive genomic regions using advanced technologies like long-read sequencing and the gapless T2T assembly.
- They successfully analyzed 13 complex cases, resolving 10 by identifying specific genomic breakpoints and structures that were previously difficult to sequence, including Robertsonian translocations and ring chromosomes.
- The study highlighted new mechanisms for SV formation and provided insights into how these genome variations affect gene expression and potential implications for disease diagnosis and genome biology.
Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.
BMC Genomics
October 2024
Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Ratzeburger Allee 160, 23562, Lübeck, Germany.
Background: Certain structural variants (SVs) including large-scale genetic copy number variants, as well as copy number-neutral inversions and translocations may not all be resolved by chromosome karyotype studies. The identification of genetic risk factors for Parkinson's disease (PD) has been primarily focused on the gene-disruptive single nucleotide variants. In contrast, larger SVs, which may significantly influence human phenotypes, have been largely underexplored.
View Article and Find Full Text PDFEffects of tenofovir disoproxil fumarate on intrahepatic viral burden and liver immune microenvironment in patients with chronic hepatitis B.
Gut
October 2024
Division of Gastroenterology and Hepatology, Department of Internal Medicine, E-Da Hospital, I-Shou University, Kaohsiung, Taiwan
Background: The impact of nucleos(t)ide analogues on intrahepatic viral burden and immune microenvironment in patients with chronic hepatitis B (CHB) is not clear.
Objective: We aimed to characterise the effects of tenofovir disoproxil fumarate (TDF) on intrahepatic viral burden and the liver immune microenvironment in patients with CHB.
Design: Core liver biopsies were collected at baseline and year 3 from patients with CHB with minimally raised serum alanine aminotransferase in a double-blind placebo-controlled trial (NCT01522625).
Effects of Carrier's sex on the outcome of embryos and pregnancies in 412 couples undergoing preimplantation genetic testing for structural rearrangements.
Gene
January 2025
Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province 511400, China. Electronic address:
Article Synopsis
- - The study aimed to determine how the sex of the carrier affects embryo outcomes and pregnancies in couples participating in preimplantation genetic testing for structural rearrangements (PGT-SR).
- - In a retrospective analysis of 412 couples, results showed that male carriers had a higher rate of genetically transferable blastocysts compared to female carriers (34.0% vs 31.7%), primarily due to different segregation patterns in the Robertsonian translocation subgroup.
- - The findings suggest that while the sex of the carrier impacts embryo transfer rates, other pregnancy outcomes remained similar, and the differences were mainly observed in the RobT subgroup, with minor variations noted in the RecT subgroup.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!