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)

Valero, M. Carmen; Luis, Oscar; Cruces, Jesús; Jurado, L.A. Pérez

doi:10.1006/geno.2000.6312

Cited by 90 publications

(87 citation statements)

References 63 publications

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“…Atypical deletions with smaller and larger deletionsizes have also been reported. According to the literature, about 5 % of typical WBS-patients display a deletion of~1.8 Mb, which is caused by recombination between the centromeric and medial LCR block A copies [72,73,78,88,89]. Furthermore, there are many reports on patients displaying deletions of partial sizes with breakpoints within the single copy region of the WBS.…”

Section: Genomic Rearrangements and Mutational Mechanisms In Wbsmentioning

confidence: 99%

“…The orthologous genes are single loci mapped on mouse chromosome 5G1. The order of intradeletion located genes relative to extradeletion loci is inverted with respect to the human genome map [73,76,88,120,121]. The ancestral chromosome present in the macaque line consists of the blocks B and C flanking the entire coding region of WBS.…”

Section: Evolution Of the Williams-beuren Syndrome Regionmentioning

confidence: 99%

“…The centromeric and the telomeric LCR block order is C>A>B, whereas the transcription direction of the centromeric complex is in the opposite direction to the telomeric complex. The medial LCR complex is composed of the order C>B>A with the same transcription direction as the centromeric block [73,88,89,127] (Figs. 1 and 2).…”

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

“…1 and 2). The centromeric, medial and telomeric copies of the single blocks share a high similarity at nucleotide sequence level (98-99 %) with a liability to mispairing and unequal crossover leading to deletions [78,88]. The single blocks are composed mainly of truncated copies of genes, coding for pseudogenes, except for some genes, which are transcriptionally active (Table 1).…”

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

“…While three loci of each block are present in most individuals, it has been shown in some cases that block A or block B is present in two or four copies on one chromosome [88,128]. The rate of copy numbers of LCR blocks is up to 4-fold higher in WBStransmitting progenitors as compared to the control population, thus indicating that this may predispose to the WBS deletion [128].…”

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

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The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

214

161

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. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

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Section: Genomic Rearrangements and Mutational Mechanisms In Wbsmentioning

confidence: 99%

Section: Evolution Of the Williams-beuren Syndrome Regionmentioning

confidence: 99%

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

Section: The Low Copy Repeats (Lcr) Of the Wbs Regionmentioning

confidence: 99%

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The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

214

161

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Segmental Duplications and Genetic Disease

Emanuel¹,

Shaikh²

2006

Encyclopedia of Life Sciences

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More than 50% of our genome is made up of repetitive DNA elements, which are classified into different categories based on their size, copy number, mechanisms of dispersal and several other factors. Segmental duplications represent one such class of repetitive element. Recently, several genetic diseases have been shown to be the result of chromosomal rearrangements mediated by segmental duplications.

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