Biunno I, Bernard L, Dear P, Cattaneo M, Volorio S, Zannini L, Bankier A, Zollo M
Istituto Tecnologie Biomediche Avanzate del CNR, Milano, Italy.
Hum Genet. 2000 Feb;106(2):227-35. doi: 10.1007/s004390051032.
We have cloned the human full-length cDNA SEL1L, which is highly similar to the C. elegans sel-1 gene, an important negative regulator of the "notch" pathway which acts as a key regulator of the cellular proliferation and specification processes in both vertebrates and invertebrates. The SEL1L gene maps to 14q24.3-31 and here we report its fine localization by HAPPY mapping, which determines its molecular distance to microsatellite markers isolated in the region. We have found two new polymorphic (CA)n microsatellites located in the gene, and have identified the exon-intron boundaries. The gene is composed of 21 exons spanning 70 kb of genomic DNA. Human SEL1L protein exhibits a high degree of similarity compared to the mouse and nematode homologs.
我们已经克隆了人类全长cDNA SEL1L，它与秀丽隐杆线虫的sel-1基因高度相似，sel-1基因是“Notch”信号通路的重要负调控因子，在脊椎动物和无脊椎动物的细胞增殖和分化过程中起关键调节作用。SEL1L基因定位于14q24.3 - 31，我们在此报告通过HAPPY作图法对其进行的精细定位，该方法确定了它与该区域分离的微卫星标记的分子距离。我们在该基因中发现了两个新的多态性（CA）n微卫星，并确定了外显子 - 内含子边界。该基因由21个外显子组成，跨越70kb的基因组DNA。与小鼠和线虫的同源物相比，人类SEL1L蛋白具有高度相似性。
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