Huntington disease expansion mutations in humans can occur before meiosis is completed (Q30962381)

14 September 2017

Huntington disease expansion mutations in humans can occur before meiosis is completed (English)

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14 September 2017

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Song-Ro Yoon

1

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14 September 2017

Louis Dubeau

2

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14 September 2017

Margot de Young

3

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14 September 2017

Nancy S Wexler

4

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14 September 2017

Norman Arnheim

5

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14 September 2017

language of work or name

English

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publication date

11 July 2003

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Proceedings of the National Academy of Sciences of the United States of America

14 September 2017

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14 September 2017

100

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14 September 2017

15

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14 September 2017

8834-8838

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Candidate DNA replication initiation regions at human trinucleotide repeat disease loci

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

DNA ligase I competes with FEN1 to expand repetitive DNA sequences in vitro

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Genomic instability in mice lacking histone H2AX

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Meiotic alterations in CAG repeat tracts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Genetic instabilities of triplet repeat sequences by recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Recombinational DNA double-strand breaks in mice precede synapsis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

The mouse Spo11 gene is required for meiotic chromosome synapsis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

The impact of lagging strand replication mutations on the stability of CAG repeat tracts in yeast

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Long palindromic sequences induce double-strand breaks during meiosis in yeast.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Fourteen and counting: unraveling trinucleotide repeat diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Increased instability of human CTG repeat tracts on yeast artificial chromosomes during gametogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Biological implications of the DNA structures associated with disease-causing triplet repeats

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Examination of factors associated with instability of the FMR1 CGG repeat.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Laser Capture Microdissection: Molecular Analysis of Tissue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Trinucleotide repeats associated with human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Genetic control of microsatellite stability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Meiosis-specific DNA double-strand breaks are catalyzed by Spo11, a member of a widely conserved protein family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Trinucleotide repeat length instability and age of onset in Huntington's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Mechanisms of DNA expansion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166399

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

21 June 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Trinucleotide expansion in haploid germ cells by gap repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Chromosome synapsis defects and sexually dimorphic meiotic progression in mice lacking Spo11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

DNA double-strand breaks and gamma-H2AX signaling in the testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Trinucleotide repeat expansion and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Most meiotic CAG repeat tract-length alterations in yeast are SPO11 dependent

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Expansions of CAG Repeat Tracts are Frequent in a Yeast Mutant Defective in Okazaki Fragment Maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Expansion and Length-Dependent Fragility of CTG Repeats in Yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Partial wave in human seminiferous tubules appears to be a random occurrence

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Simple repeat DNA is not replicated simply

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.1331390100

The Mre11 complex is required for repair of hairpin-capped double-strand breaks and prevention of chromosome rearrangements

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12857955

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1331390100

1 reference

14 September 2017

0 references

1 reference

14 September 2017

PubMed publication ID

12857955

1 reference