ArticleThe Journal of clinical investigation1994
A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 45 citations in OpenAlex.
- The landscape of human SVA retrotransposons.Nucleic acids research · 2023Article
- Mechanisms of disease-associated SINE-VNTR-Alus.Experimental biology and medicine (Maywood, N.J.) · 2022Review
- Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.The Journal of pathology · 2021Article
- A Model-Driven Quantitative Analysis of Retrotransposon Distributions in the Human Genome.Genome biology and evolution · 2020Article
- Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes.Microbiology spectrum · 2015Review
- Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.Nature · 2011Article
- Retrotransposition of marked SVA elements by human L1s in cultured cells.Human molecular genetics · 2011Article
- SVA retrotransposons: Evolution and genetic instability.Seminars in cancer biology · 2010Review
- Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion.Human molecular genetics · 2010Article
- Polymorphic SVA retrotransposons at four loci and their association with classical HLA class I alleles in Japanese, Caucasians and African Americans.Immunogenetics · 2010Article
- Exon-trapping mediated by the human retrotransposon SVA.Genome research · 2009Article
- Roles of retrotransposons in benign and malignant hematologic disease.Cellscience · 2009Article
- LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.Journal of biomedicine & biotechnology · 2006Article
- A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.Human genetics · 2005Review
- Article
- SVA elements are nonautonomous retrotransposons that cause disease in humans.American journal of human genetics · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 4 countries.
Funding
Abstract
Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene expression. De novo integration into specific genes has been described in both germ and somatic cells. We report a family with hereditary elliptocytosis and pyropoikilocytosis associated with a truncated alpha-spectrin protein. We present the biochemical characteristics of this abnormal protein and show that the alpha-spectrin gene is disrupted by a mobile element resulting in exon skipping. This element causes duplication of the insertion site and is terminated by a long poly-A tail downstream of multiple consensus polyadenylation signals. Southern blot analysis of human genomic DNA, using this element as probe, reveals one to three copies per individual. This element has no homology to any previously reported sequence and therefore appears to be a member of a novel family of mobile elements.
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Registered trials
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.