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

Murine alpha-L-iduronidase: cDNA isolation and expression

L A Clarke1, J Nasir, H Zhang

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Genomics
|November 15, 1994
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

Developmental Dysplasia of the Hip: An Audit of the Ultrasound Screening Programme.

Irish medical journal·2022
Same author

Hexarelin targets neuroinflammatory pathways to preserve cardiac morphology and function in a mouse model of myocardial ischemia-reperfusion.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2020
Same author

Health inequalities in timely antenatal care: audit of pre- and post-referral delays in antenatal bookings in London 2015-16.

Journal of public health (Oxford, England)·2020
Same author

Classical galactosaemia in Chinese: A case report and review of disease incidence.

Journal of paediatrics and child health·2017
Same author

A multifaceted hospital-wide intervention increases hand hygiene compliance.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde·2016
Same author

Metabolic diseases in children.

Canadian family physician Medecin de famille canadien·2011

Researchers identified a mouse alpha-L-iduronidase cDNA, crucial for creating a mucopolysaccharidosis type I mouse model. This cDNA, when expressed, significantly boosts enzyme activity and shows homology to human and canine genes.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Mucopolysaccharidosis type I (MPS I) is a genetic disorder caused by alpha-L-iduronidase deficiency.
  • Developing animal models is essential for understanding MPS I pathogenesis and testing therapies.
  • A murine model is a valuable tool for studying human genetic diseases.

Purpose of the Study:

  • To identify and characterize the full-length murine alpha-L-iduronidase cDNA.
  • To lay the groundwork for generating a mouse model of MPS I.
  • To analyze the sequence homology and identify potential regulatory elements in the murine cDNA.

Main Methods:

  • Cloning and sequencing of the full-length murine alpha-L-iduronidase cDNA.
  • Expression of the murine cDNA in COS-1 cells to assess enzyme activity.

Related Experiment Videos

  • Comparative sequence analysis with human and canine alpha-L-iduronidase homologs.
  • Identification of sequence overlaps with other murine genes, such as SAT-1.

    • Main Results:

    • A full-length murine alpha-L-iduronidase cDNA was successfully identified and characterized.
    • Expression of the murine cDNA in COS-1 cells resulted in a 20-fold increase in alpha-L-iduronidase activity.
    • The coding region of the murine cDNA exhibited high nucleotide sequence identity (78% human, 75% canine).
    • Significant sequence diversity was observed in the untranslated regions (UTRs), particularly the 3' UTR, which is longer in mice and contains a unique CA dinucleotide repeat.
    • A 141 bp overlap was identified between the murine alpha-L-iduronidase coding sequence and the 3' UTR of murine SAT-1 cDNA.

    Conclusions:

    • The characterized murine alpha-L-iduronidase cDNA is a key resource for developing an MPS I mouse model.
    • The high expression level achieved suggests the potential for effective gene therapy or enzyme replacement strategies.
    • The sequence variations in the UTRs may have implications for gene regulation and mRNA stability.
    • The overlap with SAT-1 warrants further investigation to understand potential regulatory interactions or transcriptional interference.