Biology:SALL1
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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.[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]
References
- ↑ 1.0 1.1 1.2 "Entrez Gene: SALL1 sal-like 1 (Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6299.
- ↑ "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.
- ↑ "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.
- ↑ "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.
External links
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.
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