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

  1. Author:
    Simon-Chazottes, D.
    Tutois, S.
    Kuehn, M.
    Evans, M.
    Bourgade, F.
    Cook, S.
    Davisson, M. T.
    Guenet, J. L.

  2. Author Address

    Inst Pasteur, Unite Genet Fonctionnelle Souris, F-75724 Paris 15, France. Univ Clermont Ferrand, UMR 6547, BIOMOVE, F-63177 Clermont Ferrand, France. Natl Canc Inst, Lab Prot Dynam & Signaling, Ft Detrick, MD 21702 USA. Univ Cardiff Wales, Sch Biosci, Cardiff, Wales. Jackson Lab, Bar Harbor, ME 04609 USA Guenet, JL, Inst Pasteur, Unite Genet Fonctionnelle Souris, F-75724 Paris 15, France
    1. Year: 2006
    2. Date: MAY
  2. Journal: Genomics
    1. 87
    2. 5
    3. Pages: 673-677
  4. Type of Article: Article
  1. Abstract:

    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 LPR4 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. (c) 2006 Elsevier Inc. All rights reserved

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External Sources

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  2. DOI: 10.1016/j.ygeno.2006.01.007
  3. View record in Web of Science®
  4. WOS: 000237551500013

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