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Identification of human phosphoglucomutase 3 (PGM 3 ) as N ‐acetylglucosamine‐phosphate mutase (AGM 1 ). PGM 3 is equivalent to AGM 1
Author(s) -
PANG H.,
KODA Y.,
SOEJIMA M.,
KIMURA H.
Publication year - 2002
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2002.00103.x
Subject(s) - phosphoglucomutase , mutase , biology , genetics , allele , gene , genotype , microbiology and biotechnology , population , biochemistry , enzyme , demography , sociology
We performed phenotyping of human phosphoglucomutase 3 (PGM 3 ) and screening for mutations in the human N ‐acetylglucosamine‐phosphate mutase gene ( AGM 1 ) to identify PGM 3 as AGM 1 . By sequencing the coding region of AGM 1 , two alleles containing a G or A base at nucleotide 1396, that can respectively encode aspartic acid or asparagine at codon 466, were identified. Cell extracts of COS7 cells after transfection with the pcDNA 3·1(+) plasmid containing an AGM 1 allele with 1396G or 1396A showed similar electrophoretic patterns to the PGM 3 1 or PGM 3 2 protein, respectively, with the isozyme detection method used for PGM 3 phenotyping. The genotypes determined by the two alleles of AGM 1 coincided exactly with the PGM 3 phenotypes in 20 individuals. We also investigated the allele frequency of the AGM 1 nucleotide polymorphism in a Japanese population by DNA sequencing and found that the frequencies of alleles 1396G and 1396A were similar to previously reported PGM 3 * 1 and PGM 3 * 2 frequencies. Overall, the facts that the AGM 1 gene product shows PGM activity, AGM 1 is polymorphic, the electrophoretic mobility is similar between AGM 1 allele‐specific products and PGM 3 1 and 2 proteins, PGM 3 phenotypes and AGM 1 genotypes completely coincide in 20 individuals, and AGM 1 allele frequencies are similar to those of PGM 3 * 1 and PGM 3 * 2 in Japanese populations, suggest that PGM 3 is identical to AGM 1 .