Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Aconitase polymorphism in man.

C A Slaughter, D A Hopkinson, H Harris

    Annals of Human Genetics
    |October 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Researchers identified genetic variations in human aconitase isozymes using electrophoresis. This study details the genetic basis of mitochondrial and soluble aconitase variation, revealing multiple alleles and population polymorphisms.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Regulation of clustered gene expression by cofactor of BRCA1 (COBRA1) in breast cancer cells.

    Oncogene·2006
    Same author

    The canine homeobox gene MSX2: sequence, chromosome assignment and genetic analysis in dogs of different breeds.

    Animal genetics·2001
    Same author

    Endothelin-1 stimulates leptin production in adipocytes.

    The Journal of biological chemistry·2001
    Same author

    The 21- and 23-kD forms of TCR zeta are generated by specific ITAM phosphorylations.

    Nature immunology·2001
    Same author

    Proteolytic cleavage of the Fe-S subunit hinge region of Rhodobacter capsulatus bc(1) complex: effects of inhibitors and mutations.

    Biochemistry·2000
    Same author

    An unusual human IgM antibody with a protruding HCDR3 and high avidity for its peptide ligands.

    Molecular immunology·2000

    Area of Science:

    • Biochemistry
    • Human Genetics
    • Enzymology

    Background:

    • Aconitase is a key enzyme in the citric acid cycle, existing in both mitochondrial and soluble forms.
    • Understanding the genetic basis of aconitase isozymes is crucial for studying metabolic pathways and genetic variation in human populations.

    Purpose of the Study:

    • To develop and apply an electrophoretic method for resolving human aconitase isozymes.
    • To investigate genetic variation and polymorphism in human aconitase isozymes.
    • To determine the genetic loci and allelic diversity of human aconitase.

    Main Methods:

    • Electrophoretic separation of aconitase isozymes from human tissues.
    • Screening of human populations for electrophoretic variation.
    • Family and sib-pair studies to establish genetic determination.

    Related Experiment Videos

  • Analysis of variant patterns to infer enzyme structure and genetic loci.

    • Main Results:

    • Two distinct groups of aconitase isozymes (mitochondrial and soluble) were resolved.
    • Genetically determined electrophoretic variants were identified for both mitochondrial and soluble aconitase.
    • Allelic variation at two independent loci (ACONM and ACONS) was proposed, with two alleles at ACONM and seven at ACONS.
    • Evidence suggests both aconitase forms are monomeric, with some resolved components being secondary isozymes.
    • Population data revealed segregation of common and rare electrophoretic variants, with significant polymorphism at the ACONS locus in Nigerians.

    Conclusions:

    • The developed electrophoretic method effectively resolves human aconitase isozymes and detects genetic variation.
    • Human aconitase exhibits significant allelic diversity and population polymorphism, particularly at the ACONS locus.
    • This genetic variation provides insights into enzyme function, evolution, and potential disease associations.