Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse

Dominique Simon-Chazottes (1) , Sylvie Tutois (2) , Michael Kuehn (3) , Martin Evans (4) , Franck Bourgade (1) , Sue Cook (5) , Muriel T. Davisson (5) , Jean-Louis Guénet (1)

1 Génétique Fonctionnelle de la Souris
2 Biomove
3 FNLCR - Frederick National Laboratory for Cancer Research
4 Cardiff University
5 JAX - The Jackson Laboratory [Bar Harbor]

Positional cloning of two recessive mutations of the mouse that cause polysyndactyly (dan and mdig-Chr 2) confirmed that the gene encoding MEGF7/LRP4, a member of the low-density lipoprotein receptor family, plays an essential role in the process of digit differentiation. Pathologies observed in the mutant mice provide insight into understanding the function(s) of LRP4 as a negative regulator of the Wnt-beta-catenin signaling pathway and may help identify the genetic basis for common human disorders with similar phenotypes.

Keywords: Mouse; LDL receptors; Limb development; Mutation

Domains: Life Sciences [q-bio]

Dominique Simon-Chazottes, Sylvie Tutois, Michael Kuehn, Martin Evans, Franck Bourgade, et al.. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics, 2006, 87 (5), pp.673-677. ⟨10.1016/j.ygeno.2006.01.007⟩. ⟨pasteur-03274121⟩