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Related Experiment Videos

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia

J M Derry1, E Gormally, G D Means

  • 1Immunex Corporation, Seattle, Washington 98101-2936, USA. jderry@immunex.com

Nature Genetics
|July 3, 1999
PubMed
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The Tattered (Td) mouse mutation, linked to a sterol isomerase gene defect, causes skin and skeletal issues. This finding identifies a similar genetic cause for human chondrodysplasia punctata type 2 (CDPX2).

Area of Science:

  • Genetics
  • Biochemistry
  • Developmental Biology

Background:

  • Tattered (Td) is an X-linked, semi-dominant mouse mutation causing prenatal male lethality and coat abnormalities in females.
  • The Td phenotype resembles human X-linked dominant chondrodysplasia punctata (CDPX2) and the mouse mutation bare patches (Bpa), which involves cholesterol biosynthesis.
  • CDPX2 patients exhibit diverse symptoms including skin defects, alopecia, cataracts, and skeletal abnormalities.

Purpose of the Study:

  • To identify the genetic defect underlying the Tattered (Td) mouse mutation.
  • To investigate the relationship between the Td mutation and human CDPX2.
  • To elucidate the role of the emopamil binding protein (Ebp) gene in sterol isomerase function and related disorders.

Main Methods:

Related Experiment Videos

  • Genetic analysis of Td mice to pinpoint the causative mutation.
  • Sequencing of the emopamil binding protein (Ebp) gene in Td mice.
  • Analysis of human EBP gene in patients with CDPX2.

    • Main Results:

    • A single amino acid substitution in the delta8-delta7 sterol isomerase emopamil binding protein (Ebp) was identified as the cause of the Td mutation in mice.
    • Alterations in the human EBP gene were found in seven unrelated CDPX2 patients, confirming a conserved role in the disorder.
    • The identified mutation affects a critical step in cholesterol biosynthesis.

    Conclusions:

    • The Td mouse mutation is caused by a defect in the Ebp gene, specifically a substitution in the sterol isomerase.
    • The study establishes a genetic link between the Td mouse model and human CDPX2, implicating the EBP gene in both.
    • This research provides insights into the molecular basis of cholesterol biosynthesis defects and their associated developmental abnormalities.