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

Human genetic disorders, a phylogenetic perspective.

J Martinez1, L J Dugaiczyk, R Zielinski

  • 1Department of Biochemistry, University of California, Riverside, CA 92521, USA.

Journal of Molecular Biology
|May 15, 2001
PubMed
Summary
This summary is machine-generated.

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

Alu-mediated phylogenetic novelties in gene regulation and development.

Journal of molecular biology·2000
Same author

Genomic expansion across the albumin gene family on human chromosome 4q is directional.

Biological chemistry·2000
Same author

Origin and phylogenetic distribution of Alu DNA repeats: irreversible events in the evolution of primates.

Journal of molecular biology·1999
Same author

The molecular clock runs at different rates among closely related members of a gene family.

Journal of molecular evolution·1998
Same author

Complete structure of the human alpha-albumin gene, a new member of the serum albumin multigene family.

Proceedings of the National Academy of Sciences of the United States of America·1996
Same author

Tandem arrangement of the human serum albumin multigene family in the sub-centromeric region of 4q: evolution and chromosomal direction of transcription.

Journal of molecular biology·1996

Human genetic diseases, like LPL, ApoB, and HPRT deficiencies, are linked to Alu repetitive DNA elements. Their varying evolutionary ages explain primate susceptibility to these disorders and cancer.

Area of Science:

  • Evolutionary biology
  • Genetics
  • Molecular biology

Background:

  • Genetic disorders provide insights into human etiology and evolution.
  • Alu repetitive DNA elements are implicated in various genetic defects.
  • Primate phylogeny offers a framework for understanding genetic disease origins.

Purpose of the Study:

  • To correlate Alu repetitive DNA elements with their phylogenetic roots in primate evolution.
  • To identify the evolutionary origins of human genetic diseases involving LPL, ApoB, and HPRT genes.
  • To explain the differential susceptibility of primate species to genetic disorders based on phylogenetic age.

Main Methods:

  • Differential distribution analysis of Alu repeats across primate species.
  • Phylogenetic analysis to trace the evolutionary age of Alu-mediated genetic disorders.

Related Experiment Videos

  • Correlation of Alu element distribution with the etiology of LPL, ApoB, and HPRT gene disorders.

    • Main Results:

    • LPL deficiency is the oldest genetic disorder, affecting humans, apes, and monkeys.
    • ApoB deficiency affects humans and great apes.
    • HPRT gene disorder (Lesch-Nyhan syndrome) is unique to humans, chimpanzees, and gorillas.
    • Alu element transpositions contribute to genetic defects and cancer, shaping primate phylogeny.

    Conclusions:

    • The phylogenetic age of Alu-mediated genetic disorders influences primate susceptibility.
    • Alu elements are dynamic forces that increase genome complexity, instability, and susceptibility to disease.
    • Alu elements serve as markers of primate phylogeny and have actively shaped its course.