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.
Contents
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]
References
- ^ a b c "Entrez Gene: SALL1 sal-like 1 (Drosophila)".
- ^ Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (January 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907.
- ^ Netzer, C; Rieger L; Brero A; Zhang C D; Hinzke M; Kohlhase J; Bohlander S K (Dec 2001). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Hum. Mol. Genet. (England) 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. ISSN 0964-6906. PMID 11751684.
- ^ Netzer, Christian; Bohlander Stefan K; Rieger Leonie; Müller Stefan; Kohlhase Jürgen (August 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochem. Biophys. Res. Commun. (United States) 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. ISSN 0006-291X. PMID 12200128.
External links
Further reading
- Nishinakamura R, Takasato M (2006). "Essential roles of Sall1 in kidney development.". Kidney Int. 68 (5): 1948–50. doi:10.1111/j.1523-1755.2005.00626.x. PMID 16221172.
- Sweetman D, Münsterberg A (2006). "The vertebrate spalt genes in development and disease.". Dev. Biol. 293 (2): 285–93. doi:10.1016/j.ydbio.2006.02.009. PMID 16545361.
- Kohlhase J; Schuh R; Dowe G et al. (1997). "Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt". Genomics 38 (3): 291–8. doi:10.1006/geno.1996.0631. PMID 8975705.
- Kohlhase J; Wischermann A; Reichenbach H et al. (1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nat. Genet. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID 9425907.
- Kohlhase J; Taschner PE; Burfeind P et al. (1999). "Molecular analysis of SALL1 mutations in Townes-Brocks syndrome". Am. J. Hum. Genet. 64 (2): 435–45. doi:10.1086/302238. PMC 1377753. PMID 9973281.
- Marlin S; Blanchard S; Slim R et al. (2000). "Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient". Hum. Mutat. 14 (5): 377–86. doi:10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. PMID 10533063.
- Engels S, Kohlhase J, McGaughran J (2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". J. Med. Genet. 37 (6): 458–60. doi:10.1136/jmg.37.6.458. PMC 1734618. PMID 10928856.
- Buck A, Archangelo L, Dixkens C, Kohlhase J (2000). "Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1". Cytogenet. Cell Genet. 89 (3–4): 150–3. doi:10.1159/000015598. PMID 10965108.
- Surka WS; Kohlhase J; Neunert CE et al. (2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects". Am. J. Med. Genet. 102 (3): 250–7. doi:10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q. PMID 11484202.
- Netzer C; Rieger L; Brero A et al. (2002). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Hum. Mol. Genet. 10 (26): 3017–24. doi:10.1093/hmg/10.26.3017. PMID 11751684.
- Kiefer SM, McDill BW, Yang J, Rauchman M (2002). "Murine Sall1 represses transcription by recruiting a histone deacetylase complex". J. Biol. Chem. 277 (17): 14869–76. doi:10.1074/jbc.M200052200. PMID 11836251.
- Ma Y; Chai L; Cortez SC et al. (2002). "SALL1 expression in the human pituitary-adrenal/gonadal axis". J. Endocrinol. 173 (3): 437–48. doi:10.1677/joe.0.1730437. PMID 12065233.
- Netzer C; Bohlander SK; Rieger L et al. (2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochem. Biophys. Res. Commun. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Sato A; Kishida S; Tanaka T et al. (2004). "Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin". Biochem. Biophys. Res. Commun. 319 (1): 103–13. doi:10.1016/j.bbrc.2004.04.156. PMID 15158448.
- Suzuki Y; Yamashita R; Shirota M et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Botzenhart EM; Green A; Ilyina H et al. (2006). "SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype". Hum. Mutat. 26 (3): 282. doi:10.1002/humu.9362. PMID 16088922.
- Kimura K; Wakamatsu A; Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Borozdin W; Steinmann K; Albrecht B et al. (2006). "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". Hum. Mutat. 27 (2): 211–2. doi:10.1002/humu.9396. PMID 16429401.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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