人类线粒体磷酸烯醇式丙酮酸羧激酶2基因。结构、染色体定位及组织特异性表达。
Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.
作者信息
Modaressi S, Brechtel K, Christ B, Jungermann K
机构信息
Institut für Biochemie und Molekulare Zellbiologie, Georg-August-Universität, Humboldtallee 23, D-37073 Göttingen, Germany.
出版信息
Biochem J. 1998 Jul 15;333 ( Pt 2)(Pt 2):359-66. doi: 10.1042/bj3330359.
Abstract
The mitochodrial (mt) phosphoenolpyruvate carboxykinase 2 (PCK2) gene was isolated by screening a human genomic library with a rat cytosolic (cy) PCK1 cDNA probe comprising sequences from exons 2-9 and by PCR amplification of human genomic DNA spanning consecutive exons with known primer pairs from mtPCK2 cDNA containing sequences from two putative neighbouring exons. The mtPCK2 gene spans approx. 10 kb and consists of ten exons and nine introns. All exon-intron junction sequences match the classical GT/AG rule. Northern blot analysis of poly(A)+ and total RNA from various tissues revealed one mRNA species of approx. 2.4 kb. The gene is expressed in a variety of human tissues, mainly in liver, kidney, pancreas, intestine and fibroblasts. In contrast with the cytosolic isoenzyme, the mitochondrial form might not have a purely gluconeogenic function. The mtPCK2 gene maps to chromosome 14q11.2-q12, in contrast with the cyPCK1 gene located on 20q13.2-q13.31.
摘要
通过用包含外显子2 - 9序列的大鼠胞质（cy）磷酸烯醇丙酮酸羧激酶1（PCK1）cDNA探针筛选人类基因组文库，以及用来自线粒体PCK2 cDNA（包含来自两个假定相邻外显子的序列）的已知引物对通过PCR扩增跨越连续外显子的人类基因组DNA，分离出线粒体（mt）磷酸烯醇丙酮酸羧激酶2（PCK2）基因。mtPCK2基因跨度约为10 kb，由十个外显子和九个内含子组成。所有外显子 - 内含子连接序列均符合经典的GT/AG规则。对来自各种组织的聚腺苷酸加尾（poly(A)+）RNA和总RNA进行Northern印迹分析，发现一种约2.4 kb的mRNA。该基因在多种人类组织中表达，主要在肝脏、肾脏、胰腺、肠道和成纤维细胞中。与胞质同工酶不同，线粒体形式可能不具有纯粹的糖异生功能。mtPCK2基因定位于染色体14q11.2 - q12，而cyPCK1基因位于20q13.2 - q13.31。
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