Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 (Q28769508)

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6 January 2020

title

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 (English)

1 reference

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6 January 2020

main subject

Williams-Beuren syndrome

1 reference

1

1 reference

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6 January 2020

author name string

Oscar de Luis

series ordinal

2

1 reference

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6 January 2020

Xavier Domingo-Roura

series ordinal

3

1 reference

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6 January 2020

Luis Alberto Pérez-Jurado

series ordinal

4

1 reference

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6 January 2020

language of work or name

English

0 references

publication date

1 September 2005

1 reference

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6 January 2020

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6 January 2020

volume

15

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6 January 2020

issue

9

1 reference

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6 January 2020

page(s)

1179-1188

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Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain

6 January 2020

cites work

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16 March 2017

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16 March 2017

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STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion

16 March 2017

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A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

16 March 2017

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A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

16 March 2017

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Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

16 March 2017

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Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees

16 March 2017

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16 March 2017

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The origin of man: a chromosomal pictorial legacy

16 March 2017

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16 March 2017

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16 March 2017

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7 April 2017

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7 April 2017

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7 April 2017

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Interpreting secondary cardiac disease variants in an exome cohort

7 April 2017

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Serial segmental duplications during primate evolution result in complex human genome architecture

3 June 2018

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The evolutionary history of human chromosome 7.

3 June 2018

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Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome

3 June 2018

1 reference

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MAVID: constrained ancestral alignment of multiple sequences

3 June 2018

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Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

3 June 2018

1 reference

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An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

3 June 2018

1 reference

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Mutational mechanisms of Williams-Beuren syndrome deletions

3 June 2018

1 reference

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Chromosomal Speciation and Molecular Divergence--Accelerated Evolution in Rearranged Chromosomes

3 June 2018

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Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome

3 June 2018

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Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization

3 June 2018

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Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates

3 June 2018

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Segmental duplications and the evolution of the primate genome

3 June 2018

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

3 June 2018

1 reference

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Recent duplication, domain accretion and the dynamic mutation of the human genome

3 June 2018

1 reference

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Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

3 June 2018

1 reference

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Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

Williams-Beuren syndrome: genes and mechanisms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

CYS3, a hotspot of meiotic recombination in Saccharomyces cerevisiae. Effects of heterozygosity and mismatch repair functions on gene conversion and recombination intermediates.

3 June 2018

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3 June 2018

1 reference

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Genomic organization of the human PMS2 gene family.

3 June 2018

1 reference

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Transcription enhances intrachromosomal homologous recombination in mammalian cells

3 June 2018

1 reference

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Chromosomal rearrangements and the genomic distribution of gene-expression divergence in humans and chimpanzees.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199532

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion

26 November 2018

1 reference

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ANALYZING TABLES OF STATISTICAL TESTS

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16140988

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.3944605

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16140988%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

2 references

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6 January 2020

PubMed publication ID

16140988

2 references