期刊
CELLULAR AND MOLECULAR LIFE SCIENCES
卷 66, 期 7, 页码 1178-1197出版社
SPRINGER BASEL AG
DOI: 10.1007/s00018-008-8401-y
关键词
Williams-Beuren syndrome; non-allelic homologous recombination; deletion; duplication; 7q11.23; elastin gene; supravalvular aortic stenosis; LCR
资金
- Institute for Human Genetics in Goettingen, Germany
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 (similar to 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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据