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

The mRNA transcripts from a mutant beta-globin gene derived from splicing at preferential cryptic sites.

A M Lossi1, J L Bergé-Lefranc

  • 1INSERM U38, Faculté de Médecine, Marseille, France.

FEBS Letters
|October 9, 1989
PubMed
Summary

A mutation in beta-globin genes disrupts normal mRNA splicing. In red blood cell precursors, abnormal splicing pathways are preferentially used, differing from cell culture findings.

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

Paraneoplastic dermatomyositis with glycogen accumulation in muscle.

Revue neurologique·2014
Same author

[Oculocutaneous albinism in French overseas territories (Reunion, French Guyana, Martinique) and Mayotte. Study of 21 cases in 16 families].

Medecine tropicale : revue du Corps de sante colonial·2006
Same author

A combined analysis of XRCC1, XRCC3, GSTM1 and GSTT1 polymorphisms and centromere content of micronuclei in welders.

Mutagenesis·2006
Same author

Risk assessment of welders using analysis of eight metals by ICP-MS in blood and urine and DNA damage evaluation by the comet and micronucleus assays; influence of XRCC1 and XRCC3 polymorphisms.

Mutagenesis·2005
Same author

Mutation screening of the PKD1 transcript by RT-PCR.

Journal of medical genetics·2002
Same author

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.

Journal of medical genetics·2002

Area of Science:

  • Molecular Biology
  • Genetics
  • Hematology

Background:

  • Splicing is crucial for accurate gene expression.
  • Mutations at splice sites can lead to aberrant mRNA.
  • Understanding splicing in specific cell types is important for disease research.

Purpose of the Study:

  • To analyze mRNA transcripts from beta-globin genes with a specific splice site mutation in vivo.
  • To investigate the impact of this mutation on normal and abnormal splicing pathways.
  • To compare in vivo findings in reticulocytes with previous in vitro studies.

Main Methods:

  • In vivo analysis of mRNA transcripts.
  • Studying beta-globin genes with a homozygous point mutation at the 5' splicing site of the first intron.

Related Experiment Videos

  • Utilizing cryptic splicing sites.

    • Main Results:

    • The mutation decreased normal mRNA splicing.
    • Mature mRNA in reticulocytes predominantly derived from abnormal splicing sites.
    • Significant differences were observed compared to studies using cultured cells.

    Conclusions:

    • Preferential processing of abnormal globin mRNA species occurs in red cell precursors.
    • In vivo splicing mechanisms in reticulocytes differ from those in cultured cells.
    • This highlights cell-type-specific regulation of mRNA processing.