An estimated frequency of endogenous insertional mutations in humans

scientific article published on 01 June 1999

An estimated frequency of endogenous insertional mutations in humans is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/9638
P698PubMed publication ID10369250

P2093author name stringKazazian HH Jr
P2860cites workAn ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophyQ24320265
Positional cloning of the gene for X-linked retinitis pigmentosa 2Q24322014
Human L1 retrotransposon encodes a conserved endonuclease required for retrotranspositionQ28114795
High frequency retrotransposition in cultured mammalian cellsQ29618259
Exon shuffling by L1 retrotranspositionQ29622913
Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposonsQ30004188
The impact of L1 retrotransposons on the human genomeQ34468340
High genomic deleterious mutation rates in hominidsQ34491535
The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptidesQ35586424
Developmental and cell type specificity of LINE-1 expression in mouse testis: implications for transpositionQ36650559
The origin of interspersed repeats in the human genomeQ41312150
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathyQ48037619
Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.Q52533352
Mobile elements and diseaseQ74837228
P433issue2
P304page(s)130
P577publication date1999-06-01
P1433published inNature GeneticsQ976454
P1476titleAn estimated frequency of endogenous insertional mutations in humans
P478volume22

Reverse relations

cites work (P2860)
Q33872587A LINE-1 component to human aging: do LINE elements exact a longevity cost for evolutionary advantage?
Q47553106A high throughput screen for active human transposable elements.
Q92819740A potential new mechanism for pregnancy loss: considering the role of LINE-1 retrotransposons in early spontaneous miscarriage
Q45722525A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype
Q29617668Active human retrotransposons: variation and disease
Q56765662Activity of Retrotransposons in Stem Cells and Differentiated Cells
Q34143181All y'all need to know 'bout retroelements in cancer.
Q52843830Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome.
Q30445599Cellular inhibitors of long interspersed element 1 and Alu retrotransposition.
Q88960625Characterization of molecular attributes that influence LINE-1 restriction by all seven human APOBEC3 proteins
Q50033056Comparative genome analysis of 52 fish species suggests differential associations of repetitive elements with their living aquatic environments
Q47345222Computational identification of harmful mutation regions to the activity of transposable elements
Q34370338Conserved themes in small-RNA-mediated transposon control
Q61450230Distribution of L1-retroposons on the giant sex chromosomes of Microtus cabrerae (Arvicolidae, Rodentia): functional and evolutionary implications
Q73606339Do all SINEs lead to LINEs?
Q35378965Endogenous APOBEC3B restricts LINE-1 retrotransposition in transformed cells and human embryonic stem cells
Q34087817Endogenous retroviruses and the human germline
Q34485044Epigenetic control of retrotransposon expression in human embryonic stem cells.
Q28749982Epigenetic mechanisms in mammals
Q37218145Evidence consistent with human L1 retrotransposition in maternal meiosis I.
Q27026309Expressing genes do not forget their LINEs: transposable elements and gene expression
Q78079172FDA comments on phase I clinical trials without vector biodistribution data
Q33691076Factors determining the risk of inadvertent retroviral transduction of male germ cells after in utero gene transfer in sheep
Q28680708Footprint of APOBEC3 on the genome of human retroelements
Q45877644Frequency of recent retrotransposition events in the human factor IX gene
Q99579530Gene Therapy for Hemophilia: Facts and Quandaries in the 21st Century
Q33211247Genome evolution and biodiversity in teleost fish
Q45861783Germline gene transfer during gene therapy: reassessing the risks
Q52745020Gypsy, RTE and Mariner transposable elements populate Eyprepocnemis plorans genome.
Q64913254Heritable L1 Retrotransposition Events During Development: Understanding Their Origins: Examination of heritable, endogenous L1 retrotransposition in mice opens up exciting new questions and research directions.
Q22066292Hot L1s account for the bulk of retrotransposition in the human population
Q29618327Human LINE retrotransposons generate processed pseudogenes
Q24804743Identification of endogenous retroviral reading frames in the human genome
Q26748949In utero stem cell transplantation and gene therapy: rationale, history, and recent advances toward clinical application
Q44328165Inadvertent germline transmission of AAV2 vector: findings in a rabbit model correlate with those in a human clinical trial
Q83771726Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome
Q45865625Insertion vectors for gene therapy.
Q36141425L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.
Q34795268LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption
Q29618440LINE-mediated retrotransposition of marked Alu sequences
Q22330802Length distribution of long interspersed nucleotide elements (LINEs) and processed pseudogenes of human endogenous retroviruses: implications for retrotransposition and pseudogene detection
Q34795214Links between repeated sequences
Q45885746Male germ-line cells are at risk following direct-injection retroviral-mediated gene transfer in utero
Q33938490Mobile elements and the human genome
Q38625944Mobilization of LINE-1 retrotransposons is restricted by Tex19.1 in mouse embryonic stem cells.
Q44119468Molecular characterization of a 2.7-kb, 12q13-specific, retroviral-related sequence isolated by RDA from monozygotic twin pairs discordant for schizophrenia
Q64117464Mouse germ line mutations due to retrotransposon insertions
Q29619443Natural mutagenesis of human genomes by endogenous retrotransposons
Q33898508Non-long terminal repeat (non-LTR) retrotransposons: mechanisms, recent developments, and unanswered questions
Q28658599Nuclear function of Alus
Q34658415On the scientific and ethical issues of fetal somatic gene therapy
Q61450224Origin and spread of the SRY gene on the X and Y chromosomes of the rodent Microtus cabrerae: Role of L1 elements
Q43584644Patterns and mutational signatures of tandem base substitutions causing human inherited disease
Q90424017Pedigree-based estimation of human mobile element retrotransposition rates
Q39753555Processed pseudogenes of human endogenous retroviruses generated by LINEs: their integration, stability, and distribution
Q36739673Progress in understanding the biology of the human mutagen LINE-1.
Q42610891Quantitative variation of LINE-1 sequences in five species and three subspecies of the subgenus Mus and in five Robertsonian races of Mus musculus domesticus.
Q35952270Repair of transposable phage Mu DNA insertions begins only when the E. coli replisome collides with the transpososome
Q44063259Retroelements (LINEs and SINEs) in vole genomes: differential distribution in the constitutive heterochromatin.
Q25255710Retroviral elements and their hosts: insertional mutagenesis in the mouse germ line
Q34688425SINEs and LINEs: the art of biting the hand that feeds you.
Q34294570Sleeping beauty transposition: biology and applications for molecular therapy
Q34442366Sleeping beauty transposon-mediated gene therapy for prolonged expression
Q34085626The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion
Q55193718The annotation of repetitive elements in the genome of channel catfish (Ictalurus punctatus).
Q48259073The curious case of APOBEC3 activation by cancer-associated human papillomaviruses
Q47910262The ethics of human gene transfer
Q29618668The evolution, distribution and diversity of endogenous retroviruses
Q35559616The hopes and fears of in utero gene therapy for genetic disease--a review.
Q24594901The impact of retrotransposons on human genome evolution
Q28142783The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene
Q30901473Transfection of oocytes and other types of ovarian cells in rabbits after direct injection into uterine arteries of adenoviruses and plasmid/liposomes.
Q28710587Transposable elements and viruses as factors in adaptation and evolution: an expansion and strengthening of the TE-Thrust hypothesis
Q36477364Treatment of Hemophilia A in Utero and Postnatally using Sheep as a Model for Cell and Gene Delivery
Q24793332Whole-genome screening indicates a possible burst of formation of processed pseudogenes and Alu repeats by particular L1 subfamilies in ancestral primates
Q37206432Would gene therapy for the treatment of male infertility be safe?

Search more.