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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus
American Journal of Human Genetics, Volume 91, No. 4, Year 2012
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Description
The study of homeotic-transformation mutants in model organisms such as Drosophila revolutionized the field of developmental biology, but how these mutants relate to human developmental defects remains to be elucidated. Here, we show that Liebenberg syndrome, an autosomal-dominant upper-limb malformation, shows features of a homeotic limb transformation in which the arms have acquired morphological characteristics of a leg. Using high-resolution array comparative genomic hybridization and paired-end whole-genome sequencing, we identified two deletions and a translocation 5′ of PITX1. The structural changes are likely to remove active PITX1 forelimb suppressor and/or insulator elements and thereby move active enhancer elements in the vicinity of the PITX1 regulatory landscape. We generated transgenic mice in which PITX1 was misexpressed under the control of a nearby enhancer and were able to recapitulate the Liebenberg phenotype. © 2012 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3484647/bin/mmc1.pdf
Authors & Co-Authors
Spielmann, Malte
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Rome
Policlinico Tor Vergata
Krawitz, Peter Michael
Germany, Berlin
Charité – Universitätsmedizin Berlin
Robinson, Peter Nicholas
Germany, Berlin
Charité – Universitätsmedizin Berlin
Ibrahim, Daniel Murad
Germany, Berlin
Max Planck Institute for Molecular Genetics
Germany, Berlin
Berlin-brandenburg Center for Regenerative Therapies
Franke, Martin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Hecht, Jochen
Germany, Berlin
Max Planck Institute for Molecular Genetics
Germany, Berlin
Berlin-brandenburg Center for Regenerative Therapies
Lohan, Silke Barbara
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Dathe, Katarina
Germany, Berlin
Charité – Universitätsmedizin Berlin
Nardone, Anna Maria
Italy, Rome
Policlinico Tor Vergata
Ferrari, Paola
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Landi, Antonio
Italy, Modena
Azienda Ospedaliero - Universitaria Di Modena
Wittler, Lars
Germany, Berlin
Max Planck Institute for Molecular Genetics
Timmermann, Bernd
Germany, Berlin
Max Planck Institute for Molecular Genetics
Chan, Danny
Hong Kong, Hong Kong
The University of Hong Kong
Mennen, Ulrich
South Africa, Pretoria
Jacaranda Hospital
Klopocki, Eva
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Mundlos, Stefan
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Germany, Berlin
Berlin-brandenburg Center for Regenerative Therapies
Statistics
Citations: 111
Authors: 18
Affiliations: 9
Identifiers
Doi:
10.1016/j.ajhg.2012.08.014
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics