Sugaya K, Fukagawa T, Matsumoto K, Mita K, Takahashi E, Ando A, Inoko H, Ikemura T
Department of Evolutionary Genetics, National Institute of Genetics, Shizuoka-ken, Japan.
Genomics. 1994 Sep 15;23(2):408-19. doi: 10.1006/geno.1994.1517.
Cosmid walking of about 250 kb from MHC class III gene CYP21 to class II was conducted. The gene for receptor of advanced glycosylation end products of proteins (RAGE, a member of immunoglobulin superfamily molecules), the PBX2 homeobox gene designated HOX12, and the human counterpart of the mouse mammary tumor gene int-3 were found. The contiguous RAGE and HOX12 genes were completely sequenced, and the human int-3 counterpart was partially sequenced and assigned to a Notch homolog. This human Notch homolog, designated NOTCH3, showed both the intracellular portion present in the mouse int-3 sequence and the extracellular portion absent in the int-3. It thus corresponds to the intact form of a Notch-type transmembrane protein. About 20 kb of dense Alu clustering was found just centromeric to the NOTCH3.
从MHCⅢ类基因CYP21到Ⅱ类基因进行了约250kb的黏粒步移。发现了蛋白质晚期糖基化终产物受体基因（RAGE，免疫球蛋白超家族分子成员）、命名为HOX12的PBX2同源盒基因以及小鼠乳腺肿瘤基因int-3的人类对应物。对相邻的RAGE和HOX12基因进行了全序列测定，对人类int-3对应物进行了部分序列测定并将其定位到一个Notch同源物。这个人类Notch同源物命名为NOTCH3，它既显示出小鼠int-3序列中存在的细胞内部分，也显示出int-3中不存在的细胞外部分。因此，它对应于Notch型跨膜蛋白的完整形式。在NOTCH3着丝粒侧发现了约20kb的密集Alu簇。
