Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase

“…PGK sequences are present, therefore, as a small, dispersed multigene family in the genomes ofat least two widely divergent species. An apparently similar situation has been reported for mouse a-globin (33) and human argininosuccinate synthetase (34,35) genes. In the latter case, genomic fragments map to several chromosomes, including X and Y, despite the absence of protein heterogeneity (34).…”

Section: A-a-a-a-g-c-t-t-c-c-c-a-t-t-c 3' and 5' T-t-c-c-a-t-t-t-g-g-mentioning

confidence: 65%

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.

Michelson¹,

Markham²,

Orkin³

1983

Proc. Natl. Acad. Sci. U.S.A.

200

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Phosphoglycerate kinase (PGK), a major enzyme in glycolysis, is encoded by the X chromosome in mammals. We have initiated molecular analysis of the PGK structural gene by isolating a full-length cDNA clone from a human fetal liver cDNA library. Synthetic oligonucleotide. mixtures encoding two different portions of PGK were used as direct in situ hybridization probes for the cDNA library. Several classes of clones were obtained based on their hybridization at different stringencies to one or both of the PGK oligonucleotide mixtures. One clone, designated pHPGK-7e, which hybridized at-high stringency to each of the synthetic probes, encoded the complete PGK protein sequence as well as 82 base pairs of 5' and,437 base pairs of 3' untranslated regions. Southern blot analysis ofhuman genomic DNAs revealed a complex pattern of hybridizing fragments, two of which were non-X in origin. These results suggest that the human genome contains a small family of dispersed PGK or PGK-like genes.Phosphoglycerate kinase (PGK; ATP:3-phosphoglycerate 1-phosphotransferase, EC 2.7.2.3), a major enzyme in glycolysis, catalyzes the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate, generating one molecule of ATP (1). In mammals, this enzyme is encoded by a single active locus on the long arm of the X chromosome (2-6). This locus is subject to dosage compensation by X chromosome inactivation (7).The structures of PGK proteins from several species have been analyzed in detail. Complete amino acid sequences of horse muscle and human erythrocyte enzymes reveal extensive interspecies homology (8,9). X-ray crystallography of horse PGK demonstrated two separate protein domains that may be of functional significance to its mechanism of catalysis (8). Because the yeast enzyme has a. similar primary and tertiary structure (8, 10), PGK appears to be highly conserved during the course of evolution. Specific human PGK variants, some of which lead to enzyme deficiency and hemolytic anemia, have also been described (11)(12)(13)(14). In addition to the X-linked protein, a testis-specific isozyme, whose structural relationship to the X chromosome-encoded enzyme is largely unknown, is found in a number of mammalian species (15-18). In the mouse, this isozyme has been mapped to the major histocompatibility complex on chromosome 17 (19), whereas in the human its chromosomal location has not been determined.Given this wealth of biochemical and genetic information, we have initiated molecular analysis of the PGK locus. A probe for PGK sequences would, facilitate studies of X-chromosome inactivation, gene evolution, and the tissue-specific expression of homologous nonallelic loci. As a first step we have isolated a full-length cDNA for the X-linked PGK structural gene. MATERIALS AND METHODSConstruction of a Human Fetal Liver cDNA Library. Liver from a human fetus of 20-22 weeks gestation was homogenized in the presence of guanidine hydrochloride, and poly(A)+RNA was isolated by two passages through oligo(dT)-cellulose. cDNA (2.2 ...

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“…There are two other precedents for this. Genes or pseudogenes for argininosuccinate synthetase [2,15] have been mapped to the X and Y chromosomes, and a DNA fragment isolated randomly from a pool of human clones [28] has been assigned to the X and the Y chromosome.…”

Section: Single Copy Sequencesmentioning

confidence: 99%

Structure and Evolution of Human Y Chromosome DNA

Cooke

Fantes

Green

1983

Mechanisms of Gonadal Differentiation in Vertebrates

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Abstract. Two repeated sequences account for 70% of the DNA of the human Y chromosome. They are located in the heterochromatin of the long arm. These sequences are related to others found on human chimpanzee and gorilla auto somes, and on the human X chromosome but have diverged in a characteristic way from the non Y copies. They have no detectable phenotypic effect when translocated to autosomes. We have cloned DNA from the human Y chromosome using fluorescence activated cell sorting. At least one single copy sequence is present on both the X and Y chromosomes.

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Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase

Cited by 57 publications

References 15 publications

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

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

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.

Structure and Evolution of Human Y Chromosome DNA

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