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Böhm, J.* ; Buck, A.* ; Borozdin, W.* ; Mannan, A.U.* ; Matysiak-Scholze, U.* ; Adham, I.* ; Schulz-Schaeffer, W.* ; Floß, T. ; Wurst, W. ; Kohlhase, J.* ; Barrionuevo, F.*

Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice.

Am. J. Pathol. 173, 1455-1463 (2008)
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Open Access Green as soon as Postprint is submitted to ZB.
Four homologs to the Drosophila homeotic gene spalt (sat) exist in both humans and mice (SALL1 to SALL4/Sall1 to Sall4, respectively). Mutations in both SALL1 and SALL4 result in the autosomal-dominant developmental disorders Townes-Brocks and Okihiro, syndrome, respectively. in contrast, no human diseases have been associated with SALL2 to date, and Sall2-deficient mice have shown no apparent abnormal phenotype. We generated mice deficient in Sall2 and, contrary to previous reports, 11% of our Sall2-deficient mice showed background-specific neural tube defects, suggesting that Sall2 has a role in neurogenesis. To investigate whether Sall4 may compensate for the absence of Sall2, we generated compound Sall2 knockout/Sall4 genetrap mutant mice. In these mutants, the incidence of neural tube defects was significantly increased. Furthermore, we found a similar phenotype in compound Sall1/4 mutant mice, and in vitro studies showed that SALL1, SALL2, and SALL4 all co-localized in the nucleus. We therefore suggest a fundamental and redundant function of the Sall proteins in murine neurulation, with the heterozygous loss of a particular SALL protein also possibly compensated in humans during development.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Townes-Brocks-syndrome; zinc-finger protein; kidney development; Okihiro-syndrome; murine homolog; homeotic gene; expression analysis; molecular-cloning; drosophila embryo; spalt
Language english
Publication Year 2008
HGF-reported in Year 2008
ISSN (print) / ISBN 0002-9440
e-ISSN 1525-2191
Journal American Journal of Pathology, The
Quellenangaben Volume: 173, Issue: 5, Pages: 1455-1463 Article Number: , Supplement: ,
Publisher Elsevier
Reviewing status Peer reviewed
Institute(s) Institute of Developmental Genetics (IDG)
POF-Topic(s) 30204 - Cell Programming and Repair
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500500-001
DOI 10.2353/ajpath.2008.071039
Scopus ID 55349119916
Erfassungsdatum 2008-12-31
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