Ihara K, Nomura A, Hikino S, Takada H, Hara T
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
J Inherit Metab Dis. 2000 Sep;23(6):583-92. doi: 10.1023/a:1005677912539.
We investigated the quantitative expression of the human glucose-6-phosphate translocase gene (G6PT1) and its splicing variants in human tissues. The G6PT1 gene was strongly expressed in liver, kidney and haematopoietic progenitor cells, which might explain major clinical symptoms such as hepatomegaly, nephromegaly and neutropenia in glycogen storage diseases type Ib. Reverse transcriptase-mediated PCR amplification of G6PT1 cDNA revealed several splicing variants in tissue-specific manners. The brain-specific isoform, which has an additional 22 amino acids between exons 6 and 8, was also identified in heart and skeletal muscle. A new splicing variant, although less prominent in quantity and lacking polypeptide loops corresponding to exons 2 and 3, may have a distinct substrate affinity or specificity in leukocytes and haematopoietic progenitors. In conclusion, the G6PT1 gene was expressed in various tissues, and alternative splicing variants exist in tissue-specific manners.
我们研究了人类葡萄糖-6-磷酸转运体基因（G6PT1）及其剪接变体在人体组织中的定量表达。G6PT1基因在肝脏、肾脏和造血祖细胞中强烈表达，这可能解释了I型糖原贮积病的主要临床症状，如肝肿大、肾肿大和中性粒细胞减少。逆转录酶介导的G6PT1 cDNA PCR扩增显示了几种组织特异性的剪接变体。在心脏和骨骼肌中也鉴定出了脑特异性异构体，其在第6和第8外显子之间还有另外22个氨基酸。一种新的剪接变体，虽然数量上不太突出且缺乏对应于第2和第3外显子的多肽环，但可能在白细胞和造血祖细胞中具有独特的底物亲和力或特异性。总之，G6PT1基因在各种组织中表达，并且存在组织特异性的可变剪接变体。
