RGD Reference Report - 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). - Rat Genome Database

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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).

Authors: Valero, MC  De Luis, O  Cruces, J  Perez Jurado, LA 
Citation: Valero MC, etal., Genomics 2000 Oct 1;69(1):1-13.
RGD ID: 1549592
Pubmed: PMID:11013070   (View Abstract at PubMed)
DOI: DOI:10.1006/geno.2000.6312   (Journal Full-text)

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analysis of high-throughput genome sequence data and assembly of a BAC/PAC/YAC contig, including the characterization of large blocks of gene-containing low-copy-number repeat elements that flank the commonly deleted interval. The WBS deletions arise as a consequence of unequal crossing over between these highly homologous sequences, which confer susceptibility to local chromosome rearrangements. We have also completed a clone contig, genetic, and long-range restriction map of the mouse homologous region, including the orthologues of all identified genes in the human map. The order of the intradeletion genes appears to be conserved in mouse, and no low-copy-number repeats are found in the region. However, the deletion region is inverted relative to the human map, exactly at the flanking regions. Thus, we have identified an evolutionary inversion with chromosomal breakpoints at the sites where the human 7q11.23 low-copy-number repeats are located. Additional comparative mapping suggests a model for human chromosome 7 evolution due to serial inversions leading to genomic duplications. This high-resolution mouse map provides the framework required for the generation of mouse models for WBS mimicking the human molecular defect.



Objects referenced in this article
Gene Asl argininosuccinate lyase Mus musculus
Gene Azgp1 alpha-2-glycoprotein 1, zinc Mus musculus
Gene Baz1b bromodomain adjacent to zinc finger domain, 1B Mus musculus
Gene Bcl7b B cell CLL/lymphoma 7B Mus musculus
Gene Cldn3 claudin 3 Mus musculus
Gene Cldn4 claudin 4 Mus musculus
Gene Clip2 CAP-GLY domain containing linker protein 2 Mus musculus
Gene Cux1 cut-like homeobox 1 Mus musculus
Gene Eif4h eukaryotic translation initiation factor 4H Mus musculus
Gene Eln elastin Mus musculus
Gene Fkbp6 FK506 binding protein 6 Mus musculus
Gene Fzd9 frizzled class receptor 9 Mus musculus
Gene Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 Mus musculus
Gene Gtf2ird1 general transcription factor II I repeat domain-containing 1 Mus musculus
Gene Hip1 huntingtin interacting protein 1 Mus musculus
Gene Limk1 LIM domain kinase 1 Mus musculus
Gene Pcolce procollagen C-endopeptidase enhancer protein Mus musculus
Gene Por cytochrome p450 oxidoreductase Mus musculus
Gene Rcc1l reculator of chromosome condensation 1 like Mus musculus
Gene Rfc2 replication factor C (activator 1) 2 Mus musculus
Gene Stag3 STAG3 cohesin complex component Mus musculus
Gene Stx1a syntaxin 1A (brain) Mus musculus
Gene Zan zonadhesin Mus musculus

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