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A gene(s) for all-trans-retinoic acid-induced forelimb defects mapped and confirmed to murine chromosome 11

Grace S Lee1, Rita M Cantor, Arin Abnoosian

  • 1Molecular Toxicology Interdepartmental Program, UCLA School of Public Health, Los Angeles, California 90095, USA.

Genetics
|March 23, 2005
PubMed

Insights

All-trans-retinoic acid causes limb malformations in mice. Genetic analysis identified key chromosomal regions on chromosomes 11 and 4, revealing interactions that influence ectrodactyly susceptibility.

Area of Science:

  • Developmental biology
  • Genetics
  • Teratology

Background:

  • All-trans-retinoic acid (RA) is a known teratogen that can induce limb malformations.
  • Susceptibility to RA-induced ectrodactyly (digital absence) varies significantly between mouse strains, with C57BL/6N being susceptible and SWV resistant.

Purpose of the Study:

  • To identify the genetic factors underlying differential susceptibility to RA-induced ectrodactyly in mice.
  • To investigate potential epistatic interactions between genetic loci influencing this developmental defect.

Main Methods:

  • A genome-wide scan was performed on 406 backcross mouse fetuses exposed to RA on gestational day 9.25.
  • Linkage analysis was used to identify quantitative trait loci (QTLs) associated with ectrodactyly.
  • Epistasis analysis was conducted to detect gene-gene interactions.

Main Results:

  • Significant linkage was detected to loci on chromosome 11 (near D11Mit39) and chromosome 4 (near D4Mit170).
  • A significant epistatic interaction was identified between loci on chromosome 11 (D11Mit39) and chromosome 18 (D18Mit64).
  • Linkage to the chromosome 11 locus was confirmed in reciprocal crosses.

Conclusions:

  • Genetic loci on chromosomes 11 and 4, with epistatic interaction involving chromosome 18, contribute to RA-induced ectrodactyly.
  • The identified chromosome 11 locus is syntenic to human regions linked to bone homeostasis and Meckel syndrome, suggesting shared molecular pathways.

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