GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com


Jump to: navigation, search


You don't have sufficient rights on this wiki to edit tables. Perhaps you need to log in. Changes you make in the Table editor will not be saved back to the wiki

See Help for Help on this wiki. See the documentation for how to use the table editor


Sakaki-Yumoto, M, Kobayashi, C, Sato, A, Fujimura, S, Matsumoto, Y, Takasato, M, Kodama, T, Aburatani, H, Asashima, M, Yoshida, N and Nishinakamura, R (2006) 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 133:3005-13


Mutations in SALL4, the human homolog of the Drosophila homeotic gene spalt (sal), cause the autosomal dominant disorder known as Okihiro syndrome. In this study, we show that a targeted null mutation in the mouse Sall4 gene leads to lethality during peri-implantation. Growth of the inner cell mass from the knockout blastocysts was reduced, and Sall4-null embryonic stem (ES) cells proliferated poorly with no aberrant differentiation. Furthermore, we demonstrated that anorectal and heart anomalies in Okihiro syndrome are caused by Sall4 haploinsufficiency and that Sall4/Sall1 heterozygotes exhibited an increased incidence of anorectal and heart anomalies, exencephaly and kidney agenesis. Sall4 and Sall1 formed heterodimers, and a truncated Sall1 caused mislocalization of Sall4 in the heterochromatin; thus, some symptoms of Townes-Brocks syndrome caused by SALL1 truncations could result from SALL4 inhibition.


PubMed Online version:10.1242/dev.02457


Animals; Blastocyst/cytology; Brain/embryology; Cell Culture Techniques; Cell Differentiation; Crosses, Genetic; DNA-Binding Proteins/genetics; Duane Retraction Syndrome/genetics; Genotype; Heart/embryology; Heterozygote Detection; Kidney/embryology; Mice; RNA, Small Interfering/genetics; Rectum/embryology; Stem Cells/cytology; Transcription Factors/genetics; Transfection