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 alpha-L-iduronidase: cDNA isolation and expression.

H S Scott1, D S Anson, A M Orsborn

  • 1Department of Chemical Pathology, Adelaide Children's Hospital, Australia.

Proceedings of the National Academy of Sciences of the United States of America
|November 1, 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

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein.

Neuropathology and applied neurobiology·2019
Same author

ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).

Journal of human hypertension·2017
Same author

Genomewide DNA methylation analysis in combat veterans reveals a novel locus for PTSD.

Acta psychiatrica Scandinavica·2017
Same author

A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients.

Leukemia·2017
Same author

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.

Leukemia·2017
Same author

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Scientific reports·2017
Same journal

Chemotactic self-organization captures the dynamics of mammalian hair follicle patterning.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Tomographic imaging of superconducting order using particle-hole interference.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Inhibitory potential of autologous neutralizing antibodies sets quantitative limits on the rebound-competent HIV-1 reservoir.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Inferring epidemiological parameters under an infectious phylogeography model with visitor dynamics.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Analytical modeling for suction cup designs for skin-interfaced wearable devices.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same journal

Improving cell-free metabolism through direct integration of artificial respiratory chains.

Proceedings of the National Academy of Sciences of the United States of America·2026
See all related articles

Researchers characterized alpha-L-Iduronidase (IDUA), crucial for glycosaminoglycan breakdown. IDUA deficiency causes mucopolysaccharidosis type I. This study sequenced IDUA, identified alternative splicing, and confirmed no major gene defects in patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Alpha-L-Iduronidase (IDUA) is a lysosomal hydrolase essential for degrading heparan sulfate and dermatan sulfate.
  • Deficiency in IDUA leads to mucopolysaccharidosis type I, a lysosomal storage disorder characterized by glycosaminoglycan accumulation.

Purpose of the Study:

  • To isolate and sequence the full human IDUA coding region.
  • To analyze the IDUA protein structure and identify potential post-translational modifications.
  • To investigate alternative splicing of IDUA mRNA and screen for gene alterations in mucopolysaccharidosis type I patients.

Main Methods:

  • cDNA cloning and sequencing
  • Polymerase Chain Reaction (PCR) for full sequence amplification and alternative splicing analysis

Related Experiment Videos

  • Northern and Southern blot analyses
  • Expression studies in Chinese hamster ovary (CHO) cells

    • Main Results:

    • The full human IDUA sequence was obtained, predicting a 653-amino acid precursor protein with a 26-amino acid signal peptide and six N-glycosylation sites.
    • Analysis revealed alternatively spliced IDUA mRNA variants in various human tissues.
    • Southern blot analysis excluded major deletions or rearrangements in the IDUA gene of 40 mucopolysaccharidosis type I patients.
    • Recombinant human IDUA expressed in CHO cells showed comparable specific activity to native IDUA.

    Conclusions:

    • The study provides the complete human IDUA sequence and insights into its protein structure.
    • Alternative splicing of IDUA mRNA exists, but major gene alterations are not a common cause of mucopolysaccharidosis type I.
    • Functional expression of IDUA in CHO cells demonstrates its potential for therapeutic applications.