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Gene Review

SALL1  -  spalt-like transcription factor 1

Homo sapiens

Synonyms: HEL-S-89, HSAL1, HSal1, Hsal1, SAL1, ...
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Disease relevance of SALL1


High impact information on SALL1

  • TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc-finger transcription factor [6].
  • Carbon dioxide partial pressure increased from a mean of 27.3 mmHg in common duct bile to greater than 100 mmHg in gallbladder bile at [TBS] = 180 mM, then declined to approximately 36 mmHg as [TBS] increased to greater than 300 mM [7].
  • In gallbladder bile, respective ranges were as follows: pH, 5.72-7.29; PCO2, 36-101 mmHg; [TCO2], 1.21-15.5 mM; [TBS], 150-305 mM; and [Na], 199-266 mM [7].
  • Possible roles for the function of the sal1 gene in aleurone signaling, including a defect in endosome trafficking, are discussed [8].
  • The sal1 gene encodes a homologue of the human Chmp1 gene, a member of the conserved family of the class E vacuolar protein sorting genes implicated in membrane vesicle trafficking [8].

Chemical compound and disease context of SALL1


Biological context of SALL1

  • Mutations in the SALL1 gene on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS) [11].
  • Recently, we showed that mutations in the putative zinc finger transcription factor gene SALL1 cause TBS [12].
  • To determine the spectrum of SALL1 mutations and to investigate the genotype-phenotype correlations in TBS, we examined 23 additional families with TBS or similar phenotypes for SALL1 mutations [12].
  • In transient transfection assays, SALL1 promoter activity was higher in HEK-293 human kidney cells and COS-7 monkey kidney cells than in NIH-3T3 fibroblasts, consistent with its role in kidney development [13].
  • Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development [13].

Anatomical context of SALL1

  • SALL1 has recently been shown to localize to chromocenters and other heterochromatin foci in murine fibroblasts and to interact with the telomere-repeat-binding factor TRF1/PIN2 [11].
  • Using epifluorescence and confocal microscopy it could be shown that a GFP-SALL1 fusion protein localizes to chromocenters and smaller heterochromatin foci in transiently transfected NIH-3T3 cells [3].
  • In the human pituitary, SALL1 protein expression was limited to the adenohypophysis, where it colocalized to those cells producing GH and the gonadotropins, LH and FSH [14].
  • SALL1 protein expression was observed in various adult and fetal tissues which elaborate reproductive endocrine hormones [14].
  • The SALL1 protein was also shown here to be highly expressed in trophoblast tumors, which overproduce sex hormones [14].

Associations of SALL1 with chemical compounds

  • Mutation of lysine 1086 of SALL1 to arginine abrogates SALL1 sumoylation, suggesting the presence of a polymeric SUMO-1 chain in the wild type state [11].
  • Six different SALL1 polymorphisms were identified in the course of the present study, three of which are clustered in a particular region of the gene that encodes a stretch of serine residues [15].
  • Of note, only two SALL1 mutations would result in truncated proteins without the glutamine-rich domain, one of which is reported here [16].
  • Binding was monitored by the change in fluorescence anisotropy at 25 degrees C and pH 7.4 in 0.02 M Tris buffer, alone (TB) or with 0.15M NaCl (TBS) [17].
  • Compared to controls, DLB brains accumulate significantly greater amounts of sodium dodecyl sulfate (SDS)-soluble and SDS-insoluble alpha SN but levels of TBS-soluble alpha SN did not change [18].

Regulatory relationships of SALL1


Other interactions of SALL1

  • The interaction of SALL1 and UBE2I was confirmed in a glutathione S-transferase (GST) pull-down experiment [11].
  • Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1 [11].
  • Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mutation of the TBX5 locus and Townes-Brocks syndrome, known to be caused by mutations in the SALL1 gene [2].
  • Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1-q12 [20].
  • We also present evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome [12].

Analytical, diagnostic and therapeutic context of SALL1

  • Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2 [21].
  • Mutations in SALL1, a gene mapping to 16q12.1, were identified as a cause for TBS [3].
  • Sequence comparison, Northern blot hybridization as well as the conserved chromosome location on the homologous mouse chromosome indicate that we have indeed isolated the murine homolog of SALL1 [22].
  • Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome [23].
  • In situ hybridization experiments reveal that the sal1 gene is ubiquitously expressed in vegetative as well as zygotic grain tissues, with no difference being detected between aleurone cells and starchy endosperm cells [8].


  1. Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome. Just, W., Trautmann, T., Baumstark, A., Müller, D. Am. J. Med. Genet. A (2003) [Pubmed]
  2. Okihiro syndrome is caused by SALL4 mutations. Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R.M., Reardon, W. Hum. Mol. Genet. (2002) [Pubmed]
  3. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. Netzer, C., Rieger, L., Brero, A., Zhang, C.D., Hinzke, M., Kohlhase, J., Bohlander, S.K. Hum. Mol. Genet. (2001) [Pubmed]
  4. Nucleotide sequences of the retroviral long terminal repeats and their adjacent regions. Chen, H.R., Barker, W.C. Nucleic Acids Res. (1984) [Pubmed]
  5. csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds. Farrell, E.R., Münsterberg, A.E. Dev. Biol. (2000) [Pubmed]
  6. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. Nat. Genet. (1998) [Pubmed]
  7. Evidence for H+ secretion by the in vivo canine gallbladder. Rege, R.V., Moore, E.W. Gastroenterology (1987) [Pubmed]
  8. sal1 determines the number of aleurone cell layers in maize endosperm and encodes a class E vacuolar sorting protein. Shen, B., Li, C., Min, Z., Meeley, R.B., Tarczynski, M.C., Olsen, O.A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  9. The effect of estrogen and androgen on androgen receptors and mRNA levels in uterine leiomyoma, myometrium and endometrium of human subjects. Fujimoto, J., Nishigaki, M., Hori, M., Ichigo, S., Itoh, T., Tamaya, T. J. Steroid Biochem. Mol. Biol. (1994) [Pubmed]
  10. X-chromatin in congenital virilizing adrenal hyperplasia. Mendonça, B.B., Zogno, M.A., Wajchenberg, B.L., Giannella-Neto, D., Toledo, S.P. Acta Endocrinol. (1984) [Pubmed]
  11. Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1. Netzer, C., Bohlander, S.K., Rieger, L., Müller, S., Kohlhase, J. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  12. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Kohlhase, J., Taschner, P.E., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M.H., ten Kate, L.P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S.J., Pauli, R.M., Wargowski, D.S., Devriendt, K., Proesmans, W., Gabrielli, O., Coppa, G.V., Wesby-van Swaay, E., Trembath, R.C., Schinzel, A.A., Reardon, W., Seemanova, E., Engel, W. Am. J. Hum. Genet. (1999) [Pubmed]
  13. Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. Chai, L., Yang, J., Di, C., Cui, W., Kawakami, K., Lai, R., Ma, Y. J. Biol. Chem. (2006) [Pubmed]
  14. SALL1 expression in the human pituitary-adrenal/gonadal axis. Ma, Y., Chai, L., Cortez, S.C., Stopa, E.G., Steinhoff, M.M., Ford, D., Morgan, J., Maizel, A.L. J. Endocrinol. (2002) [Pubmed]
  15. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. Marlin, S., Blanchard, S., Slim, R., Lacombe, D., Denoyelle, F., Alessandri, J.L., Calzolari, E., Drouin-Garraud, V., Ferraz, F.G., Fourmaintraux, A., Philip, N., Toublanc, J.E., Petit, C. Hum. Mutat. (1999) [Pubmed]
  16. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Botzenhart, E.M., Bartalini, G., Blair, E., Brady, A.F., Elmslie, F., Chong, K.L., Christy, K., Torres-Martinez, W., Danesino, C., Deardorff, M.A., Fryns, J.P., Marlin, S., Garcia-Minaur, S., Hellenbroich, Y., Hay, B.N., Penttinen, M., Shashi, V., Terhal, P., Van Maldergem, L., Whiteford, M.L., Zackai, E., Kohlhase, J. Hum. Mutat. (2007) [Pubmed]
  17. Binding of heparin by type III domains and peptides from the carboxy terminal hep-2 region of fibronectin. Ingham, K.C., Brew, S.A., Migliorini, M.M., Busby, T.F. Biochemistry (1993) [Pubmed]
  18. Accumulation of insoluble alpha-synuclein in dementia with Lewy bodies. Campbell, B.C., Li, Q.X., Culvenor, J.G., Jäkälä, P., Cappai, R., Beyreuther, K., Masters, C.L., McLean, C.A. Neurobiol. Dis. (2000) [Pubmed]
  19. Hsal 1 is related to kidney and gonad development and is expressed in Wilms tumor. Ma, Y., Singer, D.B., Gozman, A., Ford, D., Chai, L., Steinhoff, M.M., Hansen, K., Maizel, A.L. Pediatr. Nephrol. (2001) [Pubmed]
  20. SALL3, a new member of the human spalt-like gene family, maps to 18q23. Kohlhase, J., Hausmann, S., Stojmenovic, G., Dixkens, C., Bink, K., Schulz-Schaeffer, W., Altmann, M., Engel, W. Genomics (1999) [Pubmed]
  21. Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2. Kohlhase, J., Köhler, A., Jäckle, H., Engel, W., Stick, R. Cytogenet. Cell Genet. (1999) [Pubmed]
  22. Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. Buck, A., Archangelo, L., Dixkens, C., Kohlhase, J. Cytogenet. Cell Genet. (2000) [Pubmed]
  23. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Borozdin, W., Steinmann, K., Albrecht, B., Bottani, A., Devriendt, K., Leipoldt, M., Kohlhase, J. Hum. Mutat. (2006) [Pubmed]
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