Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19

Abstract

We have used a cDNA clone for human phosphoglycerate kinase (PGK) to examine the chromosomal localization of three members of the human PGK gene family. Using somatic cell hybrids segregating portions of several X-autosome translocations as well as a clone panel of hybrids segregating radiation-induced fragments of the human X chromosome, we assign a PGK pseudogene to the region Xq11-Xq13, proximal to the functional X-linked PGK gene located in Xq13. In addition, using a panel of 24 somatic cell hybrids, we assign an autosomal PGK-related DNA sequence to human chromosome 19.

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

“…The mouse homologous locus Mottled (Da~dsson 1987) is linked to the phosphoglycerate kinase 1 locus (PGK1), which has been mapped to Xq13 in man (Willard et al 1985). A Menkes female case carrying an X;autosomal translocation with a breakpoint in Xql3 further supports the localization of MNK to Xq13 (Kapur et al 1987).…”

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

“…In addition to its key metabolic function, phosphotransferase activity of PGK plays a main role in processing L-deoxynucleoside analogues, an important class of antiretroviral agents which are phosphorylated stepwise in the cells to the respective pharmacologically active triphosphates [5,6]. Two human isoenzymes characterized by different tissue localization and encoded by two distinct genes, PGK-1 and PGK-2, have been identified [7,8].…”

Report of the committee on the genetic constitution of the X and Y chromosomes

“…The X-linked phosphoglycerate kinase locus, PGK1 has an expressed autosomal counterpart on chromosome 19 (Gartler et al HGM8;Willard et al 1985a), an autosomal pseudogene on chromosome 6 (Szabo et al 1984a;Gartler et al HGM8) and an X-linked pseudogene, PGK1P1 (Michelson et al 1983(Michelson et al , 1985Gartler et al HGM8;Willard et al 1985a).…”

“…The PGK1 gene is localized in Xq 13 (Miller and Siniscalco 1982;Willard et al 1985a) and PGK1P1 has been located proximal to PGK1 in the region Xq11-q13 (Michelson et al 1983;Willard et al 1985a). …”