SALL1 explained

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene.^{[1] [2]} As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.

Function

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.^[1]

Clinical significance

Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.^[1]

Interactions

SALL1 has been shown to interact with TERF1^[3] and UBE2I.^[4]

External links

• GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome

Further reading

• Nishinakamura R, Takasato M . Essential roles of Sall1 in kidney development . Kidney International . 68 . 5 . 1948–50 . Nov 2005 . 16221172 . 10.1111/j.1523-1755.2005.00626.x . free .
• Sweetman D, Münsterberg A . The vertebrate spalt genes in development and disease . Developmental Biology . 293 . 2 . 285–93 . May 2006 . 16545361 . 10.1016/j.ydbio.2006.02.009 . 45268563 .
• Li Q, Lan X, Han X, Wang J . Expression of Tmem119/Sall1 and Ccr2/CD69 in FACS-Sorted Microglia- and Monocyte/Macrophage-Enriched Cell Populations After Intracerebral Hemorrhage . Front Cell Neurosci . 12 . 520 . January 2019 . 30687011 . 10.3389/fncel.2018.00520 . 6333739 . free .
• Kohlhase J, Schuh R, Dowe G, Kühnlein RP, Jäckle H, Schroeder B, Schulz-Schaeffer W, Kretzschmar HA, Köhler A, Müller U, Raab-Vetter M, Burkhardt E, Engel W, Stick R . Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt . Genomics . 38 . 3 . 291–8 . Dec 1996 . 8975705 . 10.1006/geno.1996.0631 .
• Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W . Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome . Nature Genetics . 18 . 1 . 81–3 . Jan 1998 . 9425907 . 10.1038/ng0198-81 . 20982906 .
• Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W . Molecular analysis of SALL1 mutations in Townes-Brocks syndrome . American Journal of Human Genetics . 64 . 2 . 435–45 . Feb 1999 . 9973281 . 1377753 . 10.1086/302238 .
• Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C . Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient . Human Mutation . 14 . 5 . 377–86 . 2000 . 10533063 . 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A . 21828589 .
• Engels S, Kohlhase J, McGaughran J . A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype . Journal of Medical Genetics . 37 . 6 . 458–60 . Jun 2000 . 10928856 . 1734618 . 10.1136/jmg.37.6.458 .
• Buck A, Archangelo L, Dixkens C, Kohlhase J . Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1 . Cytogenetics and Cell Genetics . 89 . 3–4 . 150–3 . 2000 . 10965108 . 10.1159/000015598 . 32069113 .
• Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK . Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects . American Journal of Medical Genetics . 102 . 3 . 250–7 . Aug 2001 . 11484202 . 10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q .
• Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK . SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin . Human Molecular Genetics . 10 . 26 . 3017–24 . Dec 2001 . 11751684 . 10.1093/hmg/10.26.3017 . free .
• Kiefer SM, McDill BW, Yang J, Rauchman M . Murine Sall1 represses transcription by recruiting a histone deacetylase complex . The Journal of Biological Chemistry . 277 . 17 . 14869–76 . Apr 2002 . 11836251 . 10.1074/jbc.M200052200 . free .
• Ma Y, Chai L, Cortez SC, Stopa EG, Steinhoff MM, Ford D, Morgan J, Maizel AL . SALL1 expression in the human pituitary-adrenal/gonadal axis . The Journal of Endocrinology . 173 . 3 . 437–48 . Jun 2002 . 12065233 . 10.1677/joe.0.1730437 . 10.1.1.482.5096 .
• Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J . Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1 . Biochemical and Biophysical Research Communications . 296 . 4 . 870–6 . Aug 2002 . 12200128 . 10.1016/S0006-291X(02)02003-X .
• Sato A, Kishida S, Tanaka T, Kikuchi A, Kodama T, Asashima M, Nishinakamura R . Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin . Biochemical and Biophysical Research Communications . 319 . 1 . 103–13 . Jun 2004 . 15158448 . 10.1016/j.bbrc.2004.04.156 .
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S . Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions . Genome Research . 14 . 9 . 1711–8 . Sep 2004 . 15342556 . 515316 . 10.1101/gr.2435604 .
• Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J . SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype . Human Mutation . 26 . 3 . 282 . Sep 2005 . 16088922 . 10.1002/humu.9362 . 26907877 .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . Jan 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
• Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J . 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 . Human Mutation . 27 . 2 . 211–2 . Feb 2006 . 16429401 . 10.1002/humu.9396 . 33751966 . free .

Notes and References

1. Web site: Entrez Gene: SALL1 sal-like 1 (Drosophila).
2. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W . Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome . Nature Genetics . 18 . 1 . 81–3 . Jan 1998 . 9425907 . 10.1038/ng0198-81 . 20982906 .
3. Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK . SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin . Human Molecular Genetics . 10 . 26 . 3017–24 . Dec 2001 . 11751684 . 10.1093/hmg/10.26.3017 . free .
4. Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J . Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1 . Biochemical and Biophysical Research Communications . 296 . 4 . 870–6 . Aug 2002 . 12200128 . 10.1016/S0006-291X(02)02003-X .