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SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

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21 March 2020

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints (English)

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21 March 2020

retrotransposon

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David N. Cooper

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21 March 2020

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21 March 2020

Hildegard Kehrer-Sawatzki

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21 March 2020

Victor-Felix Mautner

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21 March 2020

Ludwine Messiaen

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21 March 2020

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Josef Högel

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21 March 2020

Rick van Minkelen

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21 March 2020

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Julia Vogt

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21 March 2020

Kathrin Bengesser

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21 March 2020

Katharina Wimmer

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21 March 2020

Eric Legius

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21 March 2020

Hilde Brems

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21 March 2020

Meena Upadhyaya

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21 March 2020

Conxi Lazaro

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21 March 2020

Thorsten Rosenbaum

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21 March 2020

Simone Bammert

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21 March 2020

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2 June 2014

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21 March 2020

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21 March 2020

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21 March 2020

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21 March 2020

R80

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21 March 2020

Replicative mechanisms for CNV formation are error prone

1 reference

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Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns

1 reference

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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

1 reference

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7 July 2018

Microhomology-mediated End Joining and Homologous Recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells

1 reference

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Endogenous retrotransposition activates oncogenic pathways in hepatocellular carcinoma

1 reference

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

1 reference

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7 July 2018

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

1 reference

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7 July 2018

Retroelements in human disease

1 reference

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Non-B DB v2.0: a database of predicted non-B DNA-forming motifs and its associated tools

1 reference

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7 July 2018

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

1 reference

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7 July 2018

The minimal active human SVA retrotransposon requires only the 5'-hexamer and Alu-like domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

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Extensive somatic L1 retrotransposition in colorectal tumors

1 reference

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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

1 reference

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7 July 2018

Landscape of somatic retrotransposition in human cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Human Genomic Deletions Generated by SVA-Associated Events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Active human retrotransposons: variation and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Nonspaced inverted DNA repeats are preferential targets for homology-directed gene repair in mammalian cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Somatic retrotransposition alters the genetic landscape of the human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

A comprehensive map of mobile element insertion polymorphisms in humans

1 reference

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7 July 2018

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Retrotransposition of marked SVA elements by human L1s in cultured cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

1 reference

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7 July 2018

Natural mutagenesis of human genomes by endogenous retrotransposons

1 reference

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7 July 2018

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

1 reference

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7 July 2018

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

1 reference

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7 July 2018

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

1 reference

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7 July 2018

A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome

1 reference

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7 July 2018

Somatic expression of LINE-1 elements in human tissues.

1 reference

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7 July 2018

The impact of retrotransposons on human genome evolution

1 reference

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7 July 2018

Non-B DNA structure-induced genetic instability and evolution

1 reference

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7 July 2018

L1 retrotransposition in human neural progenitor cells

1 reference

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7 July 2018

5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

1 reference

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7 July 2018

Exon-trapping mediated by the human retrotransposon SVA.

1 reference

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7 July 2018

Mechanisms of change in gene copy number

1 reference

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7 July 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Mobile elements create structural variation: analysis of a complete human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Genetic evidence that the non-homologous end-joining repair pathway is involved in LINE retrotransposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

7 July 2018

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

1 reference

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7 July 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

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7 July 2018

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

1 reference

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7 July 2018

Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins

1 reference

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7 July 2018

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

1 reference

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7 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

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7 July 2018

The mechanism of human nonhomologous DNA end joining

1 reference

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7 July 2018

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

1 reference

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7 July 2018

A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency

1 reference

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7 July 2018

Non-B DNA conformations, mutagenesis and disease

1 reference

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7 July 2018

Emergence of primate genes by retrotransposon-mediated sequence transduction

1 reference

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7 July 2018

dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans

1 reference

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7 July 2018

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

1 reference

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7 July 2018

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

1 reference

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7 July 2018

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

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7 July 2018

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

1 reference

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7 July 2018

Cell type-specific expression of LINE-1 open reading frames 1 and 2 in fetal and adult human tissues

1 reference

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7 July 2018

SVA elements are nonautonomous retrotransposons that cause disease in humans

1 reference

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7 July 2018

Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences

1 reference

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7 July 2018

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

1 reference

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7 July 2018

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

1 reference

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7 July 2018

Inverted Alu repeats unstable in yeast are excluded from the human genome

1 reference

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7 July 2018

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

27 October 2018

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

1 reference

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27 October 2018

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

1 reference

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27 October 2018

Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA.

1 reference

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27 October 2018

Mobile DNA in Old World monkeys: a glimpse through the rhesus macaque genome.

1 reference

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27 October 2018

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

1 reference

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27 October 2018

SVA elements: a hominid-specific retroposon family.

1 reference

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27 October 2018

Two independent retrotransposon insertions at the same site within the coding region of BTK.

1 reference

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27 October 2018

DNA repair mediated by endonuclease-independent LINE-1 retrotransposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

27 October 2018

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

27 October 2018

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

27 October 2018

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

27 October 2018

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229983

27 October 2018

Genomic deletions created upon LINE-1 retrotransposition

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/24958239

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/GB-2014-15-6-R80

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24958239%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24958239%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24958239%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

ResearchGate publication ID

0 references

Sitelinks

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