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

Identification and characterization of two polymorphic Ya5 Alu repeats

S S Arcot1, M M DeAngelis, S T Sherry

  • 1Human Genome Center, Lawrence Livermore National Laboratory, Livermore, CA 94551, USA.

Mutation Research
|November 14, 1997
PubMed
Summary

Researchers discovered two new human-specific Alu elements, HS2.25 and HS4.14. These polymorphic genetic sequences are absent in primates and show variations across diverse human populations.

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

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Journal of ovarian research·2023
Same author

Genomic Analyses of Germline and Somatic Variation in High-Grade Serous Ovarian Cancer.

Research square·2023
Same author

Multimodal Regulation Orchestrates Normal and Complex Disease States in the Retina.

Scientific reports·2017
Same author

DNA Commission of the International Society for Forensic Genetics: Recommendations on the validation of software programs performing biostatistical calculations for forensic genetics applications.

Forensic science international. Genetics·2016
Same author

Genetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece.

Ophthalmic genetics·2016
Same author

The exchange adsorption of ions from aqueous solutions by organic zeolites; ion-exchange equilibria.

Journal of the American Chemical Society·2010

Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Alu elements are repetitive sequences in the human genome.
  • The Ya5/8 subfamily represents young, human-specific Alu repeats.
  • Understanding Alu element polymorphism is crucial for population genetics.

Purpose of the Study:

  • To identify and characterize novel polymorphic Alu elements.
  • To investigate the genomic location and evolutionary history of new Alu elements.
  • To assess the human population diversity of these newly found Alu repeats.

Main Methods:

  • DNA sequence analysis of Alu repeats.
  • Identification of flanking direct repeats and 3'-oligo-dA tails.
  • Comparative genomic analysis with non-human primate DNA.

Related Experiment Videos

  • Population polymorphism survey across diverse human groups.

    • Main Results:

    • Discovery of two new polymorphic Alu elements, HS2.25 and HS4.14, from the Ya5/8 subfamily.
    • HS2.25 and HS4.14 possess long 3'-oligo-dA tails and low mutation rates.
    • These elements are located on human chromosomes 13 and 1, respectively.
    • Absence in non-human primates and high polymorphism in human populations confirmed.

    Conclusions:

    • HS2.25 and HS4.14 are recent, human-specific additions to the genome.
    • Their polymorphic nature offers insights into recent human evolution and population dynamics.
    • These elements serve as valuable markers for human population genetics studies.