Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2ψ:: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

被引:33
|
作者
Schollen, E
Pardon, E
Heykants, L
Renard, J
Doggett, NA
Callen, DF
Cassiman, JJ
Matthijs, G
机构
[1] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium
[2] Univ Calif Los Alamos Natl Lab, Div Life Sci, Los Alamos, NM 87545 USA
[3] Univ Calif Los Alamos Natl Lab, Ctr Human Genome Studies, Los Alamos, NM 87545 USA
[4] Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, N Adelaide, SA 5006, Australia
关键词
D O I
10.1093/hmg/7.2.157
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:157 / 164
页数:8
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