Abstract
The search for the carbohydrate-deficient glycoprotein syndrome type I (CDG1) gene has revealed the existence of a family of phosphomannomutase (PMM) genes in humans. Two expressed PMM genes, PMM1 and PMM2 , are located on chromosome bands 22q13 and 16p13, respectively, and a processed pseudogene PMM2 psi is located on chromosome 18p. Mutations in PMM2 are the cause of CDG type IA whereas no disorder has been associated with defects in PMM1 as yet. Here, we describe the genomic organization of these paralogous genes. There is a 65% identity of the coding sequence, and all intron/exon boundaries have been conserved. The processed pseudogene is more closely related to PMM2 . Remarkably, several base substitutions in PMM2 that are associated with disease are also present at the corresponding positions in the pseudogene. Thus, mutations that occur at a slow rate in the active gene in the population have also accumulated in the pseudogene.
Citations
Jul 28, 2010·Journal of Molecular Evolution·Rita QuentalAntónio Amorim
Jun 19, 2001·Gene·L HeykantsG Matthijs
Jan 24, 2002·Glycobiology·H H Freeze
Jul 19, 2006·Molecular and Cellular Biology·K CromphoutG Matthijs
Nov 10, 2001·Annual Review of Genomics and Human Genetics·J Jaeken, G Matthijs
Oct 6, 2010·BMC Plant Biology·Chunmei YuDaowen Wang
Dec 7, 2013·Molecular Brain·Liangwu SunHuaxi Xu
Feb 29, 2000·FEBS Letters·A J MighellA F Markham
Jan 16, 2007·The Plant Journal : for Cell and Molecular Biology·Weiqiang QianDaowen Wang
Apr 29, 1998·American Journal of Human Genetics·G MatthijsJ Jaeken
Oct 21, 1999·Molecular Genetics and Metabolism·G MatthijsS Grünewald
Nov 26, 1999·Biochimica Et Biophysica Acta·H CarchonJ Jaeken
Oct 3, 1998·American Journal of Human Genetics·R H GilesM H Breuning
Jul 27, 2001·Genomics·N ComtesseE Meese
Nov 3, 2000·Human Mutation·G MatthijsB Winchester
Mar 14, 2002·American Journal of Medical Genetics·Nahid TayebiDonna M Krasnewich
Apr 7, 2004·Médecine sciences : M/S·Thierry DupréUNKNOWN Réseau de recherche sur les CDG I Inserm/AFM (4MR39F)
May 9, 2000·Journal of Inherited Metabolic Disease·F ImtiazB Winchester
Dec 11, 1999·Journal of Child Neurology·M C Patterson
Nov 9, 2018·Journal of Assisted Reproduction and Genetics·Xiang YangAleksandar Rajkovic
Dec 21, 2017·PloS One·Valentina CitroGiuseppina Andreotti
Apr 23, 2003·Journal of Inherited Metabolic Disease·P BrionesA Chabás