Progress of study on the transcription factor SALL4 / 中国实验血液学杂志

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.