Reference - Detail
| RRC ID | 2279 |
|---|---|
| Author | Sakaki-Yumoto M, Kobayashi C, Sato A, Fujimura S, Matsumoto Y, Takasato M, Kodama T, Aburatani H, Asashima M, Yoshida N, Nishinakamura R. |
| Title | 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. |
| Journal | Development |
| 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. |
| Volume | 133(15) |
| Pages | 3005-13 |
| Published | 2006-8-1 |
| DOI | 10.1242/dev.02457 |
| PII | dev.02457 |
| PMID | 16790473 |
| MeSH | Animals Blastocyst / cytology Brain / embryology Cell Culture Techniques Cell Differentiation Crosses, Genetic DNA-Binding Proteins / genetics* Duane Retraction Syndrome / genetics* Genetic Carrier Screening Genotype Heart / embryology Kidney / embryology Mice RNA, Small Interfering / genetics Rectum / embryology Stem Cells / cytology* Transcription Factors / genetics* Transfection |
| IF | 5.611 |
| Times Cited | 185 |
| WOS Category | DEVELOPMENTAL BIOLOGY |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | Patent(IFI CLAIMS) |
| Total number of mentions | 6 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| DNA material | AxCANCre (RDB01748) |