Henthorn P S, Raducha M, Kadesch T, Weiss M J, Harris H
Department of Human Genetics, University of Pennsylvania, School of Medicine, Philadelphia 19104.
J Biol Chem. 1988 Aug 25;263(24):12011-9.
At least four genes encode the human alkaline phosphatases (ALPs). The genes encoding three of these proteins (intestinal, placental, and placental-like ALPs), are linked on the long arm of chromosome 2, while the fourth gene (encoding liver/bone/kidney ALP) is located on chromosome 1. One of the linked genes, intestinal alkaline phosphatase, has been isolated on two overlapping phage clones and sequenced in its entirety. The gene is composed of 11 exons interrupted by 10 introns. Introns in intestinal, placental, and liver/bone/kidney ALPs occur at analogous positions (see accompanying articles), confirming that these genes arose from a single ancestral ALP gene. Multiple intestinal ALP mRNA species can be detected in RNA isolated from adult and fetal intestine and from cell line RNAs. In cell line RNA, the various species are the result of differential use of at least three of the four polyadenylation signals present in the intestinal ALP gene. A 125-base pair fragment located 5' to the first exon can function as a promoter in mammalian cells. This region contains two putative transcription signals, a TATA-like sequence and a consensus binding site for the transcription factor Sp1.
至少有四个基因编码人碱性磷酸酶(ALP)。编码其中三种蛋白质(肠型、胎盘型和胎盘样ALP)的基因位于2号染色体长臂上,而第四个基因(编码肝/骨/肾ALP)位于1号染色体上。其中一个连锁基因,即肠碱性磷酸酶,已在两个重叠的噬菌体克隆中分离出来并进行了全序列测定。该基因由11个外显子和10个内含子组成。肠型、胎盘型和肝/骨/肾型ALP中的内含子出现在类似位置(见相关文章),证实这些基因起源于一个单一的祖先ALP基因。在从成人和胎儿肠道以及细胞系RNA中分离的RNA中可以检测到多种肠ALP mRNA种类。在细胞系RNA中,各种种类是肠ALP基因中存在的四个聚腺苷酸化信号中至少三个信号差异使用的结果。位于第一个外显子5'端的一个125个碱基对的片段可以在哺乳动物细胞中作为启动子发挥作用。该区域包含两个假定的转录信号,一个类似TATA的序列和转录因子Sp1的共有结合位点。