Premium
Mouse model of split hand/foot malformation type I
Author(s) -
Merlo Giorgio R.,
Paleari Laura,
Mantero Stefano,
Genova Francesca,
Beverdam Annemiek,
Palmisano Giulio L.,
Barbieri Ottavia,
Levi Giovanni
Publication year - 2002
Publication title -
genesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.093
H-Index - 110
eISSN - 1526-968X
pISSN - 1526-954X
DOI - 10.1002/gene.10098
Subject(s) - penetrance , ectrodactyly , dlx5 , biology , locus (genetics) , sonic hedgehog , expressivity , gene , anatomy , genetics , phenotype , ectodermal dysplasia , transcription factor , homeobox
Abstract Split hand/foot malformation type I (SHFM1) disease locus maps to chromosome 7q21.3‐q22, a region that includes the distal‐less ‐related ( dll ) genes DLX5 and DLX6 . However, incomplete penetrance, variable expressivity, segregation distortion, and syndromic association with other anomalies have so far prevented the identification of the SHFM1 gene(s) in man. Here we show that the targeted double inactivation of Dlx5 and Dlx6 in the mouse causes in homozygous mutant animals bilateral ectrodactyly with a severe defect of the central ray of the hindlimbs, a malformation typical of SHFM1. This is the first evidence that the role of dll/Dlx genes in appendage development is conserved from insects to mammals and proves their involvement in SHFM1. genesis 33:97–101, 2002. © 2002 Wiley‐Liss, Inc.