| First Author | Böhm J | Year | 2008 |
| Journal | Am J Pathol | Volume | 173 |
| Issue | 5 | Pages | 1455-63 |
| PubMed ID | 18818376 | Mgi Jnum | J:143350 |
| Mgi Id | MGI:3826724 | Doi | 10.2353/ajpath.2008.071039 |
| Citation | Bohm J, et al. (2008) Sall1, sall2, and sall4 are required for neural tube closure in mice. Am J Pathol 173(5):1455-63 |
| abstractText | Four homologs to the Drosophila homeotic gene spalt (sal) 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. |
