Triggs-Raine B L, Benoit G, Salo T J, Trasler J M, Gravel R A
McGill University-Montreal Children's Hospital Research Institute, Canada.
Biochim Biophys Acta. 1994 Oct 21;1227(1-2):79-86. doi: 10.1016/0925-4439(94)90110-4.
The murine HEXB gene, encoding the beta-subunit of the lysosomal hydrolase, beta-hexosaminidase, was isolated from a mouse cosmid library as a single cosmid clone. The entire gene spans 22 kb, considerably less than the 40 kb spanned by its human counterpart. It is highly homologous to the human gene. The 14 intron-exon junctions are entirely conserved, although the intron sequences diverge rapidly. Upstream of the coding region, a 1.3 kb segment was sequenced and shown to function as a promoter when fused with a reporter gene and expressed in monkey COS-7 cells. A short sequence (100 bp), near the start of the coding region, exhibits strong homology to the human HEXB promoter. Analysis of the tissue distribution of the HEXB mRNA in 129/Sv male mice revealed up to 28-fold tissue-specific variations in transcript levels. The kidney and the epididymis had the highest mRNA levels consistent with past surveys of enzyme activity.
从小鼠粘粒文库中分离出编码溶酶体水解酶β-己糖胺酶β亚基的小鼠HEXB基因，得到一个单一的粘粒克隆。该基因全长22kb，远小于其人类对应基因的40kb。它与人类基因高度同源。尽管内含子序列迅速分化，但14个内含子-外显子连接点完全保守。在编码区上游，对一段1.3kb的片段进行了测序，当与报告基因融合并在猴COS-7细胞中表达时，该片段表现出启动子功能。在编码区起始附近的一段短序列（100bp）与人类HEXB启动子具有很强的同源性。对129/Sv雄性小鼠中HEXB mRNA的组织分布分析显示，转录水平存在高达28倍的组织特异性差异。肾脏和附睾的mRNA水平最高，这与过去对酶活性的调查结果一致。
