HGNC Approved Gene Symbol: SALL3Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:78,979,817-78,998,968 (from NCBI)▼ TEXTFor background informatio...
HGNC Approved Gene Symbol: SALL3
Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:78,979,817-78,998,968 (from NCBI)
For background information on Sal-like genes, see SALL1 (602218).
▼ Cloning and Expression
Using the mouse Sall3 cDNA sequence, Kohlhase et al. (1999) identified an orthologous human EST which they used to isolate a partial genomic cosmid clone. Using 5-prime RACE on a human testis RNA, they isolated a SALL3 cDNA clone, but could not identify the first transcription start site or the 5-prime end of the transcript. The SALL3 protein contains 4 double zinc finger (DZF) domains, each of which contains sequences identical or closely related to the SAL box, a characteristic stretch of 8 amino acids within the second zinc finger motif. Using PCR primers to amplify a human fetal brain cDNA library, Kohlhase et al. (1999) only detected transcripts containing 3 DZF domains, suggesting that the third of the 4 encoded DZF domains is spliced out in most transcripts. The third transcript is also spliced out in the orthologous mouse Sall3 (Msa1) and Xenopus Xsal1 proteins. Northern blot analysis detected strong expression of a 5-kb transcript in heart, decreasing expression in brain, pancreas, kidney, skeletal muscle, liver, and placenta, and very weak expression in lung. In situ hybridization detected expression of SALL3 at 24 weeks of gestation in several regions of the human fetal brain including neurons of the hippocampus formation and of mediodorsal and ventrolateral thalamic nuclei, Purkinje cells of the cerebellum, and a subset of neurons in the brainstem.
▼ Gene Structure
Kohlhase et al. (1999) identified 4 exons in the SALL3 gene. Because no 5-prime RACE products contained both exons 1 and 1a, the authors proposed that these exons function as alternative first exons, with exon 1 encoding a protein with a single zinc finger motif that is not present when exon 1a is used.
By fluorescence in situ hybridization, Kohlhase et al. (1999) mapped the SALL3 gene to 18q23 in the critical region for chromosome 18q deletion syndrome (601808).