SALL4
| Sal-like 4 (Drosophila) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | SALL4 ; DRRS; HSAL4; MGC133050; ZNF797; dJ1112F19.1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 10716 | ||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Sal-like 4 (Drosophila), also known as SALL4, is a human gene.[1]
Sal-like genes encode putative zinc finger transcription factors. For background information on SALL genes, see SALL1 (MIM 602218).[supplied by OMIM][1]
References
Further reading
- 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.
- Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Kohlhase J, Heinrich M, Schubert L; et al. (2003). "Okihiro syndrome is caused by SALL4 mutations". Hum. Mol. Genet. 11 (23): 2979–87. PMID 12393809.
- Al-Baradie R, Yamada K, St Hilaire C; et al. (2003). "Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family". Am. J. Hum. Genet. 71 (5): 1195–9. PMID 12395297.
- 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. PMID 12477932.
- Kohlhase J, Schubert L, Liebers M; et al. (2003). "Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy". J. Med. Genet. 40 (7): 473–8. PMID 12843316.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Borozdin W, Wright MJ, Hennekam RC; et al. (2004). "Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum". J. Med. Genet. 41 (8): e102. doi:10.1136/jmg.2004.019505. PMID 15286162.
- Kohlhase J, Holmes LB (2005). "Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide". Birth Defects Res. Part A Clin. Mol. Teratol. 70 (8): 550–1. doi:10.1002/bdra.20050. PMID 15329836.
- Borozdin W, Boehm D, Leipoldt M; et al. (2005). "SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism". J. Med. Genet. 41 (9): e113. doi:10.1136/jmg.2004.019901. PMID 15342710.
- Wabbels BK, Lorenz B, Kohlhase J (2005). "No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS)". Am. J. Med. Genet. A. 131 (2): 216–8. doi:10.1002/ajmg.a.30321. PMID 15386473.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Kohlhase J, Chitayat D, Kotzot D; et al. (2006). "SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders". Hum. Mutat. 26 (3): 176–83. doi:10.1002/humu.20215. PMID 16086360.
- Miertus J, Borozdin W, Frecer V; et al. (2007). "A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome". Hum. Genet. 119 (1–2): 154–61. doi:10.1007/s00439-005-0124-7. PMID 16402211.
- Terhal P, Rösler B, Kohlhase J (2006). "A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation". Am. J. Med. Genet. A. 140 (3): 222–6. doi:10.1002/ajmg.a.31060. PMID 16411190.
- Ma Y, Cui W, Yang J; et al. (2006). "SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice". Blood. 108 (8): 2726–35. doi:10.1182/blood-2006-02-001594. PMID 16763212.
- Paradisi I, Arias S (2007). "IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus". Am. J. Med. Genet. A. 143 (4): 326–32. doi:10.1002/ajmg.a.31603. PMID 17256792.
- Habano W, Sugai T, Jiao YF, Nakamura S (2007). "Novel approach for detecting global epigenetic alterations associated with tumor cell aneuploidy". Int. J. Cancer. 121 (7): 1487–93. doi:10.1002/ijc.22847. PMID 17546590.
- Yang J, Chai L, Liu F; et al. (2007). "Bmi-1 is a target gene for SALL4 in hematopoietic and leukemic cells". Proc. Natl. Acad. Sci. U.S.A. 104 (25): 10494–9. doi:10.1073/pnas.0704001104. PMID 17557835.
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