Gene Symbol: Sall4
Description: spalt-like transcription factor 4
Alias: sal-like protein 4, sal-like 4
Species: rat
Products:     Sall4

Top Publications

  1. Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed S, et al. 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;40:473-8 pubmed
    ..recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13.13-13.2...
  2. Al Baradie R, Yamada K, St Hilaire C, Chan W, Andrews C, McIntosh N, et al. 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. 2002;71:1195-9 pubmed
    ..A new member of the SAL family of proposed C(2)H(2) zinc finger transcription factors, SALL4, falls within the region...
  3. Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, et al. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002;11:2979-87 pubmed
    ..We have characterized the human SALL4 gene on chromosome 20q13.13-q13.2...
  4. Yang M, Ho M, Lau H, Tam P, Young A, Pang C, et al. Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. Mol Vis. 2013;19:986-94 pubmed
    ..All exons and their adjacent splicing junctions of the sal-like 4 (SALL4) gene were amplified with polymerase chain reaction and analyzed with direct sequencing in all the recruited ..
  5. Warren M, Wang W, Spiden S, Chen Murchie D, Tannahill D, Steel K, et al. A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. Genesis. 2007;45:51-8 pubmed
    b>SALL4 is a homologue of the Drosophila homeotic gene spalt, a zinc finger transcription factor, required for inner cell mass proliferation in early embryonic development...
  6. Alves L, Perez A, Alonso L, Otto P, Mingroni Netto R. Novel frameshift variant in gene SALL4 causing Okihiro syndrome. Eur J Med Genet. 2016;59:80-5 pubmed publisher
    ..It is a rare autosomal dominant disorder determined by variants in the SALL4 gene which encodes a transcription factor with eight zinc finger motifs...
  7. Koshiba Takeuchi K, Takeuchi J, Arruda E, Kathiriya I, Mo R, Hui C, et al. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet. 2006;38:175-83 pubmed
    Human mutations in TBX5, a gene encoding a T-box transcription factor, and SALL4, a gene encoding a zinc-finger transcription factor, cause similar upper limb and heart defects...
  8. Elling U, Klasen C, Eisenberger T, Anlag K, Treier M. Murine inner cell mass-derived lineages depend on Sall4 function. Proc Natl Acad Sci U S A. 2006;103:16319-24 pubmed
    b>Sall4 is a mammalian Spalt transcription factor expressed by cells of the early embryo and germ cells, an expression pattern similar to that of both Oct4 and Sox2, which play essential roles during early murine development...
  9. Yamashita K, Sato A, Asashima M, Wang P, Nishinakamura R. Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. Genes Cells. 2007;12:171-82 pubmed
    ..Thus Sall1 may bind to A/T-rich sequences of the major satellite DNA via its C-terminal double zinc fingers, thereby mediating its localization to heterochromatin. ..

More Information


  1. Cao D, Guo S, Allan R, Molberg K, Peng Y. SALL4 is a novel sensitive and specific marker of ovarian primitive germ cell tumors and is particularly useful in distinguishing yolk sac tumor from clear cell carcinoma. Am J Surg Pathol. 2009;33:894-904 pubmed publisher
    ..Here by immunohistochemistry, we investigated a novel marker SALL4 in 98 GCTs (29 YSTs, 18 dysgerminomas, 6 gonadoblastomas, 6 embryonal carcinomas, 15 immature and 12 mature ..
  2. Cao D, Li J, Guo C, Allan R, Humphrey P. SALL4 is a novel diagnostic marker for testicular germ cell tumors. Am J Surg Pathol. 2009;33:1065-77 pubmed publisher
    ..Here we performed an immunohistochemical study of a novel stem cell marker SALL4 in a large series of 110 primary testicular GCTs (65 pure and 45 mixed) containing the following types of tumors ..
  3. Gonzalez Roibon N, Katz B, Chaux A, Sharma R, Munari E, Faraj S, et al. Immunohistochemical expression of SALL4 in hepatocellular carcinoma, a potential pitfall in the differential diagnosis of yolk sac tumors. Hum Pathol. 2013;44:1293-9 pubmed publisher
    b>SALL4 is a transcription factor that serves as a marker of yolk sac tumor. Yolk sac tumor and hepatocellular carcinoma share histologic, serologic, and immunohistochemical features...
  4. Sakaki Yumoto M, Kobayashi C, Sato A, Fujimura S, Matsumoto Y, Takasato M, et al. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development. 2006;133:3005-13 pubmed
    Mutations in SALL4, the human homolog of the Drosophila homeotic gene spalt (sal), cause the autosomal dominant disorder known as Okihiro syndrome...
  5. Wang B, Li L, Xie X, Wang J, Yan J, Mu Y, et al. Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. Int J Cardiol. 2010;145:224-226 pubmed publisher
    Ventricular septal defect (VSD) accounts for about half of congenital heart disease (CHD). SAL-Like 4 (SALL4) gene mutations have been identified to be the cause of Okihiro syndrome which is characterized by association limb and multiple ..
  6. Terhal P, Rösler B, Kohlhase J. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Am J Med Genet A. 2006;140:222-6 pubmed
    The SALL4 gene encodes a putative zinc finger transcription factor and is located on chromosome 20q13.13-13.2...
  7. Iseki H, Nakachi Y, Hishida T, Yamashita Sugahara Y, Hirasaki M, Ueda A, et al. Combined Overexpression of JARID2, PRDM14, ESRRB, and SALL4A Dramatically Improves Efficiency and Kinetics of Reprogramming to Induced Pluripotent Stem Cells. Stem Cells. 2016;34:322-33 pubmed publisher
    ..Our findings provide an insight into the important roles of JARID2 during reprogramming and suggest that the JARID2-associated protein network contributes to overcoming reprogramming barriers. ..
  8. Böhm J, Buck A, Borozdin W, Mannan A, Matysiak Scholze U, Adham I, et al. Sall1, sall2, and sall4 are required for neural tube closure in mice. Am J Pathol. 2008;173:1455-63 pubmed publisher
    Four homologs to the Drosophila homeotic gene spalt (sal) exist in both humans and mice (SALL1 to SALL4/Sall1 to Sall4, respectively)...
  9. Gnemmi V, Leteurtre E, Sudour Bonnange H, Devisme L, Guettier C, Buob D, et al. SALL4 is a marker of the embryonal subtype of hepatoblastoma. Histopathology. 2013;63:425-8 pubmed publisher
    b>SALL4 is a marker of germ cell tumours. The aim of this study was to investigate SALL4 expression in blastemal tumours, particularly in hepatoblastoma. The study included 12 hepatoblastomas...