CHARACTERIZATION OF THE HUMAN LYSOSOMAL ALPHA-GLUCOSIDASE GENE
CHARACTERIZATION OF THE HUMAN LYSOSOMAL ALPHA-GLUCOSIDASE GENE
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DOI：
10.1042/bj2720493
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发表时间：
1990-12-01
影响因子：
4.1
通讯作者：
OOSTRA, BA
中科院分区：
文献类型：
--
作者：
HOEFSLOOT, LH;HOOGEVEENWESTERVELD, M;OOSTRA, BA
克隆了编码人溶酶体α-葡萄糖苷酶的基因并确定了其结构。该基因约为。 20 kb 长，包含 20 个外显子。第一个外显子是非编码的。推定催化位点结构域的编码序列在中间被 101 bp 的内含子中断。该内含子在人和兔异麦芽糖酶基因高度相似的区域中并不保守。启动子区域通过 CAT 测定确定，mRNA 的起始位置通过引物延伸确定。该启动子具有“管家”基因的特征。 GC 含量较高 (80%)，且缺乏独特的 TATA 和 CCAAT 基序。存在 AP-2 转录因子的两个潜在结合位点。四个潜在的 Sp-1 结合位点位于 mRNA 5'' 末端的下游。
The gene coding for human lysosomal .alpha.-glucosidase was cloned and its structure was determined. The gene is approx. 20 kb long, and contains 20 exons. The first exon is non-coding. The coding sequence of the putative catalytic site domain is interrupted in the middle by an intron of 101 bp. This intron is not conserved in the highly similar region of the human and rabbit isomaltase genes. The promoter region was defined by a CAT assay and the start of the mRNA was determined by primer extension. The promoter has features characteristic of a ''housekeeping'' gene. The GC content is high (80%) and distinct TATA and CCAAT motifs are lacking. Two potential binding sites for the AP-2 transcription factor are present. Four potential Sp-1 binding sites are located downstream of the 5'' end of the mRNA.