Disease relevance of Sall1

• Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects [1].
• The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development [2].

High impact information on Sall1

• A synthetic oligonucleotide corresponding to the Sall box consensus sequence governs transcription termination in vitro, although with reduced activity [3].
• Deletions, insertions, and point mutations in the Sall box reduce or abolish the interaction with the nuclear factor and disrupt transcription termination [3].
• Four genes have been identified in mice--Spalt1 to Spalt4 (Sall1 to Sall4) [4].
• Although Sall2 is expressed mostly in an overlapping fashion versus that of Sall1, Sall2-deficient mice show no apparent abnormal phenotypes [5].
• We found that only cells strongly expressing Sall1 (Sall1-GFP(high) cells), a zinc-finger nuclear factor essential for kidney development, form colonies, and that they reconstitute a three-dimensional kidney structure in an organ culture setting [6].

Biological context of Sall1

• Sall1 is expressed in the metanephric mesenchyme surrounding ureteric bud; homozygous deletion of Sall1 results in an incomplete ureteric bud outgrowth, a failure of tubule formation in the mesenchyme and an apoptosis of the mesenchyme [7].
• Here, we have analyzed the expression of the mouse homologue of SALL1 (Sall1) during early embryogenesis [8].
• Here we report the genomic cloning, chromosome mapping, and partial expression analysis of the gene Sall1 [9].
• We have analyzed the ontogenic initiation and maintenance of methylation of certain Hpall (m), Hhal (H), Hincll (Hc), and Sall (SI)-specific CpG sites in the coding region of the proto-oncogene, c-fos, through testicular cells, sperm, and fetal, neonatal, and adult somatic tissues [10].

Anatomical context of Sall1

• In the embryonic kidney, Sall1 is expressed abundantly in mesenchyme-derived structures from condensed mesenchyme, S-, comma-shaped bodies, to renal tubules and podocytes [11].
• This phenotype is likely to be primarily caused by the absence of the inductive signal from the ureter, as the Sall1-deficient mesenchyme is competent with respect to epithelial differentiation [7].

Associations of Sall1 with chemical compounds

• We generated mice in which a green fluorescent protein (GFP) gene was inserted into the Sall1 locus and we isolated the GFP-positive population from embryonic kidneys of these mice by fluorescein-activated cell sorting [11].

Other interactions of Sall1

• We have now generated mice lacking Sall2, another Sall family gene [5].

Analytical, diagnostic and therapeutic context of Sall1

• SALL1, a causative gene for Townes-Brocks syndrome, encodes a zinc finger protein, and its mouse homolog (Sall1) is essential for metanephros development, as noted during gene targeting [11].
• We also generated mice in which a green fluorescent protein (GFP) gene was inserted into the Sall1 locus and we isolated the GFP-positive population from embryonic kidneys of these mice by fluorescence-activated cell sorting (FACS) [12].

References