Biology:SALL1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. 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.

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.

Interactions

SALL1 has been shown to interact with TERF1 and UBE2I.

External links

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

Further reading

• "Essential roles of Sall1 in kidney development". Kidney International 68 (5): 1948–50. Nov 2005. doi:10.1111/j.1523-1755.2005.00626.x. PMID 16221172. 
• "The vertebrate spalt genes in development and disease". Developmental Biology 293 (2): 285–93. May 2006. doi:10.1016/j.ydbio.2006.02.009. PMID 16545361. https://ueaeprints.uea.ac.uk/id/eprint/1181/1/06_Sweetman_DevBiol_review.pdf. 
• "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. doi:10.3389/fncel.2018.00520. PMID 30687011. 
• "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. doi:10.1006/geno.1996.0631. PMID 8975705. 
• "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics 18 (1): 81–3. Jan 1998. doi:10.1038/ng0198-81. PMID 9425907. 
• "Molecular analysis of SALL1 mutations in Townes-Brocks syndrome". American Journal of Human Genetics 64 (2): 435–45. Feb 1999. doi:10.1086/302238. PMID 9973281. 
• "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. doi:10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. PMID 10533063. 
• "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". Journal of Medical Genetics 37 (6): 458–60. Jun 2000. doi:10.1136/jmg.37.6.458. PMID 10928856. 
• "Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1". Cytogenetics and Cell Genetics 89 (3–4): 150–3. 2000. doi:10.1159/000015598. PMID 10965108. 
• "Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects". American Journal of Medical Genetics 102 (3): 250–7. Aug 2001. doi:10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q. PMID 11484202. 
• "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. doi:10.1093/hmg/10.26.3017. PMID 11751684. 
• "Murine Sall1 represses transcription by recruiting a histone deacetylase complex". The Journal of Biological Chemistry 277 (17): 14869–76. Apr 2002. doi:10.1074/jbc.M200052200. PMID 11836251. 
• "SALL1 expression in the human pituitary-adrenal/gonadal axis". The Journal of Endocrinology 173 (3): 437–48. Jun 2002. doi:10.1677/joe.0.1730437. PMID 12065233. 
• "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochemical and Biophysical Research Communications 296 (4): 870–6. Aug 2002. doi:10.1016/S0006-291X(02)02003-X. PMID 12200128. 
• "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. doi:10.1016/j.bbrc.2004.04.156. PMID 15158448. 
• "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research 14 (9): 1711–8. Sep 2004. doi:10.1101/gr.2435604. PMID 15342556. 
• "SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype". Human Mutation 26 (3): 282. Sep 2005. doi:10.1002/humu.9362. PMID 16088922. 
• "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. Jan 2006. doi:10.1101/gr.4039406. PMID 16344560. 
• "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. 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.