Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
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DOI：
10.1016/s0378-1119(01)00481-4
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发表时间：
2001-05-30
期刊：
影响因子：
3.5
通讯作者：
Matthijs, G
中科院分区：
文献类型：
--
作者：
Heykants, L;Schollen, E;Matthijs, G
磷酸甘露糖变位酶：催化甘露糖6-磷酸可逆转化为甘露糖1-磷酸。在人类中，最近发现了两种不同的同工酶，PMM1和PMM2。我们之前已经证明，PMM2基因的突变导致了最常见的先天性糖基化障碍CDG-Ia。在这里，我们提供了关于两个小鼠同源基因Pm1和Pmm2的数据。这两个小鼠基因的染色体定位已经确定。我们还介绍了PmM1和Pmm2的基因结构和外显子-内含子组织。Pm1定位于小鼠15号染色体，Pmm2定位于16号染色体。这些染色体区域分别与人类22号和16号染色体上的区域同线。PMM1基因由8个外显子组成，全长约9.5kb。人类和小鼠基因之间的基因组结构非常保守。Pmm2基因由8个外显子组成，跨越较大的基因组区域(约20kb)。人类和小鼠蛋白质序列的比对证实了这个磷酸甘露糖突变酶家族的保守性。这两个小鼠基因在许多组织中都有表达，但PmM1和Pmm2的表达模式略有不同。最显著的区别是PMM1在脑组织中的高表达。而PMM2仅在该组织中弱表达。(C)2001 Elsevier Science B.V.保留所有权利。
Phosphomannomutases: catalyze the reversible conversion of mannose 6-phosphate to mannose 1-phosphate. In humans, two different isozymes have recently been identified, PMM1 and PMM2. We have previously shown that mutations in the PMM2 gene cause the most frequent type of the congenital disorders of glycosylation, CDG-Ia. Here, we present data on the two mouse orthologous genes, Pmm1 and Pmm2. The chromosomal localization of the two mouse genes has been determined. We also present the gene structure and the exon-intron organization of Pmm1 and Pmm2. Pmm1 maps to mouse chromosome 15, Pmm2 to chromosome 16. These chromosomal regions are syntenic with regions on human chromosomes 22 and 16, respectively. The Pmm1 gene is composed of eight exons and spans approximately 9.5 kb. The genomic structure is extremely well conserved between the human and mouse gene. The Pmm2 gene consists of eight exons acid spans a larger genomic region (approximate to 20 kb). An alignment of the human and mouse protein sequences confirms the conservation among this family of phosphomannomutases. The two mouse genes are expressed in many tissues, but the expression pattern is slightly different between Pmm1 and Pmm2. The most striking difference is the high expression of Pmm1 in brain tissue. whereas Pmm2 is only weakly expressed in this tissue. (C) 2001 Elsevier Science B.V. All rights reserved.