Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2011 Jun;19(3):820-3.

[Progress of study on the transcription factor SALL4].

[Article in Chinese]

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Department of Hematology, Jiangsu University Affiliated People Hospital, Zhenjiang Key Laboratory of Experimental Hematology, Zhenjiang 212002, Jiangsu Province, China.

Abstract

SAL-like 4 (SALL4) locating at chromosome 20q13.13-13.2 encodes a newly identified transcription factor containing 8 zinc finger motif. Recent studies have revealed the important role of SALL4 gene in the regulation of early embryonic development, organogenesis, and proliferation and pluripotency of embryonic stem cells. The heterozygous mutations of SALL4 in different loci, causing nonsense mutation or frameshift mutation, and resulting in genesis of premature terminal codon, are correlated with autosomal dominant hereditary diseases such as Okihiro syndrome, acro-renal-ocular syndrome and IVIC syndrome. The level of SALL4 expression is increased in germ cell tumors, hepatoid gastric carcinoma, acute myeloid leukemia, B-precursor cell leukemia/lymphoma and myelodysplastic syndrome. This review focuses on the structure and function of SALL4 gene as well as its relevance to related diseases.

PMID:: 21729579; [PubMed - indexed for MEDLINE]

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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. 2003]
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[Progress of study on the transcription factor SALL4].

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