Identification of a novel tandemly repeated sequence present in an intron of the glucose phosphate isomerase (GPI) gene in mouse and man

Journal Article · Sun May 01 04:00:00 EDT 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1233· OSTI ID:7029720

Faik, P; Walker, J I.H.; Morgan, M J ^[1]

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1. Guy's Hospital, London (United Kingdom)

Glucose phosphate isomerase (GPI, glucose 6-phosphate ketol-isomerase, EC 5.3.1.9) is a housekeeping gene expressed in all tissues and organisms that utilize glycolysis and gluconeogenesis. Deficiency in humans leads to a rare form of nonspherocytic hemolytic anemia. The authors have isolated a 3.2-kb mouse cDNA containing glucose phosphate isomerase coding sequence and a 2.1-kb intronic sequence and a large proportion of the human gene (approaching 55 kb) in four phage [lambda] recombinants. A 4-kb intronic fragment from the human gene showing homology to the mouse intronic sequence has been isolated and sequenced. The fragment contains approximately 1.5 kb of sequence that is composited of 30 repeat units of a novel 50-kb tandemly repeated unit. The mouse intronic sequence contains 18 similar units. The human consensus sequence differs from the mouse consensus sequence at only 7 positions out of 50 (positions 16, 26, 27, 42, 43, 47, and 48). A probe containing the repeat element detects polymorphisms, specific to glucose phosphate isomerase, in human DNA. The repeat element does not appear to be present at any other loci in human DNA. The conservation of this intronic repeat element extends to pig and Chinese hamster. 26 refs., 4 figs.

• OSTI ID: 7029720
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 21:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANEMIAS
ANIMALS
BIOTECHNOLOGY
CHROMOSOMES
CLONING
DETECTION
DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
ENZYMES
ETIOLOGY
GENE MUTATIONS
GENETIC ENGINEERING
HEMIC DISEASES
HUMAN CHROMOSOME 19
HUMAN CHROMOSOMES
HYBRIDIZATION
ISOMERASES
MAMMALS
MICE
MUTATIONS
NUCLEIC ACID HYBRIDIZATION
ORGANIC COMPOUNDS
PROTEINS
RODENTS
STRUCTURAL CHEMICAL ANALYSIS
SYMPTOMS
VERTEBRATES