ALTERNATIVE TRANSCRIPTION AND SPLICING OF THE HUMAN PORPHOBILINOGEN DEAMINASE GENE RESULT EITHER IN TISSUE-SPECIFIC OR IN HOUSEKEEPING EXPRESSION
ALTERNATIVE TRANSCRIPTION AND SPLICING OF THE HUMAN PORPHOBILINOGEN DEAMINASE GENE RESULT EITHER IN TISSUE-SPECIFIC OR IN HOUSEKEEPING EXPRESSION
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DOI：
10.1073/pnas.85.1.6
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发表时间：
1988-01-01
影响因子：
11.1
通讯作者：
ROMEO, PH
中科院分区：
文献类型：
--
作者：
CHRETIEN, S;DUBART, A;ROMEO, PH
胆色素原脱氨酶[PBGD;胆色素原氨裂解酶（聚合），EC 4.3.1.8]是一种参与血红素生物合成途径的胞质酶。已知PBGD的两种同种型，由仅在其5“末端不同的两种mRNA编码：一种存在于所有细胞中，另一种仅存在于红系细胞中。我们以前已经表明，人类PBGD是由一个单一的基因编码，现在已经克隆和表征这个基因，它被分成15个外显子分布在10个DNA酶。我们证明，这两个mRNA来自两个重叠的转录单位。第一个（上游）在所有组织中是有活性的，并且其启动子具有管家启动子的一些结构特征;第二个位于3个脱氢酶下游，仅在红系细胞中有活性，并且其启动子显示出与β-脱氢酶的结构同源性。珠蛋白基因启动子。
Porphobilinogen deaminase [PBGD; porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] is a cytosolic enzyme involved in the heme biosynthetic pathway. Two isoforms of PBGD, encoded by two mRNAs differing solely in their 5'' end, are known: one is found in all cells and the other is present only in erythroid cells. We have previously shown that the human PBGD is encoded by a single gene and have now cloned and characterized this gene, which is split into 15 exons spread over 10 kilobases of DNA. We demonstrate that the two mRNAs arise from two overlapping transcription units. The first one (upstream) is active in all tissues and its promoter has some of the structural features of a housekeeping promoter; the second, located 3 kilobases downstream, is active only in erythroid cells and its promoter displays structural homologies with the .beta.-globin gene promoters.