Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene.
Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene.
复制标题
人类线粒体磷酸甘油脱氢酶编码基因和假基因的结构组织和定位。
DOI：
10.1016/0378-1119(96)00019-4
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发表时间：
1996
期刊：
影响因子：
3.5
通讯作者：
MacDonald,MJ
中科院分区：
文献类型：
--
作者：
Brown,LJ;Stoffel,M;Moran,SM;Fernald,AA;Lehn,DA;LeBeau,MM;MacDonald,MJ
线粒体磷酸甘油脱氢酶(MtGPD)是磷酸甘油穿梭过程中的限速酶，被认为在需要活跃的糖酵解途径的细胞中发挥着重要作用。线粒体GPD的异常被认为是非胰岛素依赖型糖尿病的一个潜在原因。为了便于遗传学研究，我们分离了包含人类mtGPD编码基因(GPDM)编码区的基因组克隆。该基因包含17个外显子，估计跨度超过80kb。所有的剪接连接都包含GT/AG共有序列。内含子中断编码前导肽、FAD结合位点、钙结合区和一个保守的中心元件的序列，该中央元件被认为在甘油磷酸结合中发挥作用。用荧光原位杂交技术将该基因定位于2号染色体q24.1带。发现了一个反转录假基因，并定位在17号染色体上。
Mitochondrial glycerol phosphate dehydrogenase (mtGPD) is the rate-limiting enzyme in the glycerol phosphate shuttle, which is thought to play an important role in cells that require an active glycolytic pathway. Abnormalities in mtGPD have been proposed as a potential cause for non-insulin-dependent diabetes mellitus. To facilitate genetic studies, we have isolated genomic clones containing the coding regions of the human mtGPD-encoding gene (GPDM). The gene contains 17 exons and is estimated to span more than 80 kb. All splice junctions contain GT/AG consensus sequences. Introns interrupt the sequences encoding the leader peptide, the FAD-binding site, the calcium-binding regions, and a conserved central element postulated to play a role in glycerol phosphate binding. Fluorescence in situ hybridization was used to map this gene to chromosome 2, band q24.1. A retropseudogene was identified and mapped to chromosome 17.