Publication Details

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

Authors:Lee GS, Cantor RM, Abnoosian A, Park E, Yamamoto ML, Hovland DN Jr, Collins MD
Title:A gene(s) for all-trans-retinoic acid-induced forelimb defects mapped and confirmed to murine chromosome 11.
Journal:Genetics May 2005 , Vol 170 , pp. 345-53
Abstract:All-trans-retinoic acid (RA) induces various anatomical limb dysmorphologies in mice dependent on the time of exposure. During early limb development, RA induces forelimb ectrodactyly (digital absence) with varying susceptibilities for different inbred mouse strains; C57BL/6N are highly susceptible while SWV are resistant. To isolate the genetic basis of this defect, a full-genome scan was performed in 406 backcross fetuses of F(1) males to C57BL/6N females. Fetuses were exposed via a maternal injection of 75 mg of RA per kilogram of body weight on gestational day 9.25. The genome-wide analysis revealed significant linkage to a chromosome 11 locus near D11Mit39 with a maximum LOD score of 9.0 and to a chromosome 4 locus near D4Mit170. An epistatic interaction was detected between loci on chromosome 11 (D11Mit39) and chromosome 18 (D18Mit64). Linkage to the chromosome 11 locus (D11Mit39) was confirmed in RA-treated backcross fetuses of F(1) females to C57BL/6N males. Loci associated with bone density/mass in both human and mouse were previously detected in the same region, suggesting a mechanistic linkage with bone homeostasis. The human syntenic region of this locus has been previously linked to Meckel syndrome; the phenotype includes postaxial polydactyly, an ectopic digital defect hypothesized to be induced by a common molecular pathway with ectrodactyly.   PUBMED: 15781699
Ontological Annotations:
  • D015519: Bone Density (Publication, NCBO Annotator)
  • D006706: Homeostasis (Publication, NCBO Annotator)
  • D006801: Humans (Publication, NCBO Annotator)
  • D002875: Chromosomes (Publication, NCBO Annotator)
  • D001835: Body Weight (Publication, NCBO Annotator)
  • MP:0005230: ectrodactyly (Publication, NCBO Annotator)
  • D051379: Mice (Publication, NCBO Annotator)
  • D008126: Lod Score (Publication, NCBO Annotator)
  • GO:0005694: chromosome (Publication, NCBO Annotator)
  • GO:0060173: limb development (Publication, NCBO Annotator)
  • MP:0009744: postaxial polydactyly (Publication, NCBO Annotator)
  • D013995: Time (Publication, NCBO Annotator)
  • D002894: Chromosomes, Human, Pair 4 (Publication, NCBO Annotator)
  • D008815: Mice, Inbred Strains (Publication, NCBO Annotator)
  • MP:0000562: polydactyly (Publication, NCBO Annotator)
  • D014212: Tretinoin (Publication, NCBO Annotator)
  • D005333: Fetus (Publication, NCBO Annotator)
  • D005121: Extremities (Publication, NCBO Annotator)
  • D005552: Forelimb (Publication, NCBO Annotator)
  • D017689: Polydactyly (Publication, NCBO Annotator)
  • D007267: Injections (Publication, NCBO Annotator)
  • MA:0000025: forelimb (Publication, NCBO Annotator)
  • MA:0000007: limb (Publication, NCBO Annotator)
  • D002880: Chromosomes, Human, Pair 11 (Publication, NCBO Annotator)
  • D001842: Bone and Bones (Publication, NCBO Annotator)
  • MA:0001459: bone (Publication, NCBO Annotator)
  • D002887: Chromosomes, Human, Pair 18 (Publication, NCBO Annotator)

3 GeneSets from this Publication:

Select gene sets below using the check boxes, and then add them to a project using the pull down below. You can also create a project using the pull down. To view a set, click on the GeneSetID:GeneSet Description shown in green below.
Expand Tier II Mouse 988 Genes GS136566: retinoic acid induced forelimb autopod reduction (Rafar, Published QTL Chr 11)
Expand Tier II Mouse 759 Genes GS136567: retinoic acid induced forelimb autopod reduction 2 (Rafar2, Published QTL Chr 4)
Expand Tier II Mouse 117 Genes GS136568: Rafar interacting locus (Rafaril, Published QTL Chr 18)