Edwards Y H, Putt W, Fox M, Ives J H
MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London, United Kingdom.
Genomics. 1995 Nov 20;30(2):350-3. doi: 10.1006/geno.1995.9866.
The phosphoglucomutases (PGM1-3) in humans are encoded by three genes, PGM1, PGM2, and PGM3. These enzymes are central to carbohydrate metabolism. All three isozymes show genetic variation, and PGM1 has achieved prominence as a key marker in genetic linkage mapping and in forensic science. The human PGM genes are assumed to have arisen by gene duplication since their products are broadly similar in structure and function; however, direct proof of their evolutionary relationship is not available because only PGM1 has been cloned. During a search for other members of the PGM family, a novel sequence with homology to PGM1 was identified. Mapping using fluorescence in situ hybridization and somatic cell hybrids locates this gene to the centromeric region of chromosome 9. RT-PCR and Northern analysis indicate that this is an expressed PGM gene with widespread distribution in adult and fetal tissues. We propose that this gene be designated PGM5 and that it represents a novel member of the PGM family.
人类中的磷酸葡萄糖变位酶（PGM1 - 3）由三个基因PGM1、PGM2和PGM3编码。这些酶在碳水化合物代谢中起核心作用。所有三种同工酶都表现出遗传变异，并且PGM1已成为遗传连锁图谱绘制和法医学中的关键标记。由于人类PGM基因的产物在结构和功能上广泛相似，因此推测它们是通过基因复制产生的；然而，由于只有PGM1已被克隆，所以它们进化关系的直接证据尚不可得。在寻找PGM家族的其他成员时，鉴定出了一个与PGM1具有同源性的新序列。使用荧光原位杂交和体细胞杂种进行的定位将该基因定位于9号染色体的着丝粒区域。逆转录聚合酶链反应（RT - PCR）和Northern分析表明，这是一个在成年和胎儿组织中广泛分布的已表达的PGM基因。我们建议将该基因命名为PGM5，它代表PGM家族的一个新成员。
