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

Masayo Sakaki-YumotoRyuichi Nishinakamura


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.


Sep 15, 1997·Nucleic Acids Research·K L TuckerR Jaenisch
Dec 6, 2001·Proceedings of the National Academy of Sciences of the United States of America·D LiT L Benjamin
Feb 12, 2002·The Journal of Biological Chemistry·Susan McLeskey KieferMichael Rauchman
Oct 24, 2002·Human Molecular Genetics·Jürgen KohlhaseWilliam Reardon
Oct 24, 2002·American Journal of Human Genetics·Raidah Al-BaradieElizabeth C Engle
Dec 17, 2002·Molecular and Cellular Biology·Akira SatoRyuichi Nishinakamura
May 30, 2003·Nature·Kazutoshi TakahashiShinya Yamanaka
Aug 14, 2003·Human Molecular Genetics·Susan McLeskey KieferMichael Rauchman
Apr 15, 2004·Molecular and Cellular Biology·Dawei LiThomas Benjamin
May 26, 2004·Biochemical and Biophysical Research Communications·Akira SatoRyuichi Nishinakamura
Dec 29, 2005·Nature Genetics·Kazuko Koshiba-TakeuchiBenoit G Bruneau

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