ArticleAmerican journal of human genetics1999
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
32 citing papers in PubMed, 112 citations in OpenAlex.
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions inFrontiers in medicine · 2021Article
- Transposable elements in human genetic disease.Nature reviews. Genetics · 2019Review
- Transposable element-mediated structural variation analysis in dog breeds using whole-genome sequencing.Mammalian genome : official journal of the International Mammalian Genome Society · 2019Article
- Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.Journal of human genetics · 2017Article
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.BMC medical genetics · 2015Article
- Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.BMC biology · 2014Article
- Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.European journal of human genetics : EJHG · 2013Article
- Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Genome research · 2013Article
- Article
- Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.Pediatric nephrology (Berlin, Germany) · 2011Article
- LINE-1 elements in structural variation and disease.Annual review of genomics and human genetics · 2011Review
- Frequent gene conversion events between the X and Y homologous chromosomal regions in primates.BMC evolutionary biology · 2010Article
- Evolution of serum albumin intron-1 is shaped by a 5' truncated non-long terminal repeat retrotransposon in western Palearctic water frogs (Neobatrachia).Molecular phylogenetics and evolution · 2009Article
- Retroelements and their impact on genome evolution and functioning.Cellular and molecular life sciences : CMLS · 2009Review
- The human genome in the LINE of fire.Proceedings of the National Academy of Sciences of the United States of America · 2008Review
- L1 recombination-associated deletions generate human genomic variation.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- Article
- [Leiomyomatosis of the colon: case report and literature review].Der Pathologe · 2007Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
Deletions encompassing the 5' termini of the paired type IV collagen genes COL4A5 and COL4A6 on chromosome Xq22 give rise to Alport syndrome (AS) and associated diffuse leiomyomatosis (DL), a syndrome of disseminated smooth-muscle tumors involving the esophagus, large airways, and female reproductive tract. In this study, we report isolation and characterization of two deletion junctions. The first, in a patient described elsewhere, arose by a nonhomologous recombination event fusing a LINE-1 (L1) repetitive element in intron 1 of COL4A5 to intron 2 of COL4A6, resulting in a 13.4-kb deletion. The second, in a previously undescribed family, arose by unequal homologous recombination between the same L1 and a colinear L1 element in intron 2 of COL4A6, resulting in a>40-kb deletion. L1 elements have contributed to the emergence of this locus as a site of frequent recombinations by diverse mechanisms. These give rise to AS-DL by disruption of type IV collagen and perhaps other as yet unidentified genes, evidenced by deletions as small as 13.4 kb.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.