Jan 1, 1979

Genetic heterogeneity within an electrophoretic phenotype of phosphoglucose isomerase in a Japanese population

Annals of Human Genetics
C Satoh, H W Mohrenweiser


The thermostability of the five kinds of electrophoretically variant phenotypes of GPI which were found in Japanese in a previous study (Tanis et al. 1977) was examined. The most frequently found variant phenotype, termed GPI 1-4HIR1, observed in 20 individuals could be divided into three distinct classes on the basis of thermostability characteristics. These classes were termed 'stable', 'labile', and 'very labile'. 'Stable' lost approximately 20 and 60% of its original activity after heating 10 and 30 min at 52-5 degrees C, respectively, while normal GPI lost approximately 30 and 70% of its original activity. 'Labile' lost approximately 40 and 80%, and 'very labile' lost approximately 55 and 90% of its original activity under the same heating conditions. Electrophoresis showed that that thermostability was a characteristic of the variant protein molecule but not of the electrophoretically normal molecule. The order of the stability of these three kinds of variants against 5 M urea was the same as that of their thermostability. No difference against inhibition by 6-phosphogluconate was observed among the normal and the variant phosphoglucose isomerases. Family studies confirmed the genetic nature of the thermo- and urea stabil...Continue Reading

  • References12
  • Citations17


Mentioned in this Paper

Genetics, Population
Urea Measurement
Family Investigation, NOS
Metabolic Inhibition
GPI gene
Genetic Equilibrium

About this Paper

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Coronavirus Protein Structures

Deciphering and comparing the proteins of different coronaviruses forms a basis for understanding SARS-CoV-2 evolution and virus-receptor interactions. This feed follows studies analyzing the structures of coronavirus proteins, thereby revealing potential drug target sites.

DDX3X Syndrome

DDX3X syndrome is caused by a spontaneous mutation at conception that primarily affects girls due to its location on the X-chromosome. DDX3X syndrome has been linked to intellectual disabilities, seizures, autism, low muscle tone, brain abnormalities, and slower physical developments. Here is the latest research.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

Fusion Oncoproteins in Childhood Cancers

This feed explores the function of fusion oncoproteins in specific childhood cancers, including those from racial/ethnic minority and underserved groups, and to provide preclinical assessment of potential therapeutics and how fusion oncoproteins influence gene expression to perturb normal cellular programs to block lineage differentiation and development

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Regulation of Vocal-Motor Plasticity

Dopaminergic projections to the basal ganglia and nucleus accumbens shape the learning and plasticity of motivated behaviors across species including the regulation of vocal-motor plasticity and performance in songbirds. Discover the latest research on the regulation of vocal-motor plasticity here.

Mitotic-exit networks with cytokinesis

Cytokinesis is the highly regulated process that physically separates daughter and mother cells in late mitosis. The mitotic-exit network (MEN), the signalling pathway that drives mitotic exit, directly regulates cytokinesis. Discover the latest research on mitotic-exit networks with cytokinesis here.

DNA Replication Origin

DNA replication is initiated as specific gene sequences, called origins, that function to start DNA replication. Pre-replication complexes are assembled at these origins during the G1 phase of the cell cycle. These sequences allow for targeted activation or deactivation of replication. Discover the latest research on DNA replication origins here.