Larsson C, Lardelli M, White I, Lendahl U
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Genomics. 1994 Nov 15;24(2):253-8. doi: 10.1006/geno.1994.1613.
In Drosophila the Notch gene controls differentiation to various cell fates in many tissues. Three mammalian Notch homologs have recently been identified: Notch 1, 2, and 3. All three homologs are very highly conserved relative to the Drosophila Notch gene, which suggests that they are important for cell differentiation in mammals. This notion is supported by the previous finding of a truncated, translocated form of the human NOTCH1 gene (formerly TAN1) in three cases of leukemia. Given this genetic link between NOTCH1 and tumor formation, it is of interest to establish the chromosomal positions of the other two homologs. We report the identification of cosmid clones for the human NOTCH1, 2, and 3 genes. These clones were used as probes in fluorescence in situ hybridization to human metaphase chromosomes, and the results, combined with data from somatic cell hybrid panels, show that the NOTCH2 and 3 genes are located at positions 1p13-p11 and 19p13.2-p13.1, respectively, which are regions of neoplasia-associated translocation.
在果蝇中，Notch基因控制着许多组织中细胞向不同命运的分化。最近已鉴定出三种哺乳动物Notch同源物：Notch 1、2和3。相对于果蝇Notch基因，这三种同源物都高度保守，这表明它们对哺乳动物的细胞分化很重要。先前在三例白血病中发现人NOTCH1基因（以前称为TAN1）的截短、易位形式，这一发现支持了这一观点。鉴于NOTCH1与肿瘤形成之间的这种遗传联系，确定其他两种同源物的染色体位置很有意义。我们报告了人类NOTCH1、2和3基因的黏粒克隆的鉴定。这些克隆用作荧光原位杂交检测人类中期染色体的探针，结果与体细胞杂交板的数据相结合，表明NOTCH2和3基因分别位于1p13 - p11和19p13.2 - p13.1位置，这些是与肿瘤形成相关的易位区域。
