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

Isolation of an active human transposable element.

B A Dombroski1, S L Mathias, E Nanthakumar

  • 1Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

Science (New York, N.Y.)
|December 30, 1991
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

Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling.

Haemophilia : the official journal of the World Federation of Hemophilia·2016
Same author

Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.

Human genetics·2013
Same author

Influence of coating bath chemistry on the deposition of 3-mercaptopropyl trimethoxysilane films deposited on magnesium alloy.

Journal of colloid and interface science·2010
Same author

Automated fluorescent genotyping.

Current protocols in human genetics·2008
Same author

Current topics in genome evolution: molecular mechanisms of new gene formation.

Cellular and molecular life sciences : CMLS·2006
Same author

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

Human genetics·2006

Two truncated L1 elements inserted into the factor VIII gene caused hemophilia A. A full-length L1 element, likely the source, was identified, revealing ancient genetic elements. This discovery sheds light on genetic disorders and evolutionary history.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease

Background:

  • Hemophilia A is a genetic bleeding disorder caused by mutations in the factor VIII gene.
  • Long interspersed nuclear elements (L1) are retrotransposons that can cause genetic mutations.
  • The role of L1 insertions in causing hemophilia A is an area of ongoing research.

Purpose of the Study:

  • To identify the genetic cause of hemophilia A in specific patients.
  • To investigate the origin and characteristics of L1 elements involved in factor VIII gene disruption.
  • To understand the evolutionary history of L1 elements in the human genome.

Main Methods:

  • Sequence analysis of the factor VIII gene to detect insertions.
  • Isolation and characterization of L1 elements using sequence identity.

Related Experiment Videos

  • Phylogenetic analysis to determine the age of L1 element alleles.

    • Main Results:

    • Identified two de novo insertions of truncated L1 elements in the factor VIII gene, leading to hemophilia A.
    • Isolated a full-length L1 element as the probable progenitor of one insertion.
    • Characterized this L1 element, finding two open-reading frames and identifying it as an allele of a long-occupied locus on chromosome 22.

    Conclusions:

    • De novo L1 insertions into the factor VIII gene can cause hemophilia A.
    • The identified L1 element provides insight into the progenitor of disease-causing insertions.
    • L1 elements have a long evolutionary history, with specific loci occupied for millions of years.