title: Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2.
abstract: 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 and spans a larger genomic region ( approximately 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.
authors.affiliation: Center for Human Genetics, University of Leuven, U.Z. Gasthuisberg O&N6, Herestraat 49, B-3000, Leuven, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Heykants
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: S
authors.initials: S
authors.lastname: Grünewald
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D015971:Gene Expression Regulation, Enzymologic; D005796:Genes / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D007527:Isoenzymes; D012333:RNA, Messenger; D017875:Phosphotransferases (Phosphomutases); C513491:Pmm2 protein, mouse; C052799:phosphomannomutase