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PMID:16790473

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Citation

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

Abstract

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.

Links

PubMed Online version:10.1242/dev.02457

Keywords

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

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:SALL4

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3699175

P

Seeded From UniProt

complete

MOUSE:SALL4

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1889585

P

Seeded From UniProt

complete

MOUSE:SALL1

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:2139360

P

Seeded From UniProt

complete

MOUSE:SALL1

acts_upstream_of_or_within

GO:0003281: ventricular septum development

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:2139360

P

Seeded From UniProt

complete

MOUSE:SALL4

acts_upstream_of_or_within

GO:0001833: inner cell mass cell proliferation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3699175

P

Seeded From UniProt

complete

MOUSE:SALL4

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3699175

P

has_participant:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:SALL4

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1889585

P

has_participant:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:SALL4

acts_upstream_of_or_within

GO:0003281: ventricular septum development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3699175

P

Seeded From UniProt

complete

MOUSE:SALL4

acts_upstream_of_or_within

GO:0003281: ventricular septum development

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1889585

P

Seeded From UniProt

complete


See also

References

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