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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Nature Genetics, Volume 44, No. 6, Year 2012
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Description
Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell populations in branchial arches and gonads by repressing Sdf1. We further found that transcriptional control by Irx5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1; disruptions of these proteins also cause craniofacial dysmorphisms. Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis. © 2012 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Bonnard, Carine
Singapore, Singapore City
A-star, Institute of Medical Biology
Strobl, Anna C.
United Kingdom, London
Mrc National Institute for Medical Research
Al-Shboul, Mohammad
Singapore, Singapore City
A-star, Institute of Medical Biology
Lee, Hane
United States, Los Angeles
David Geffen School of Medicine at Ucla
Merriman, Barry
United States, Los Angeles
David Geffen School of Medicine at Ucla
Nelson, Stanley F.
United States, Los Angeles
David Geffen School of Medicine at Ucla
Ababneh, Osama
Jordan, Amman
The University of Jordan
Uz, Elif
Turkey, Duzce
Düzce Üniversitesi
Turkey, Ankara
Hacettepe Üniversitesi
Guran, Tulay
Turkey, Istanbul
Marmara Üniversitesi Tip Fakültesi
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Hamamy, Hanan Ali
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Reversade, Bruno
Singapore, Singapore City
A-star, Institute of Medical Biology
Singapore, Singapore City
National University of Singapore
Statistics
Citations: 66
Authors: 12
Affiliations: 11
Identifiers
Doi:
10.1038/ng.2259
ISSN:
10614036
e-ISSN:
15461718