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
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 ma...
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| Veröffentlicht in: | Development (Cambridge) 2006-08, Vol.133 (15), p.3005-3013 |
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| creator | Sakaki-Yumoto, Masayo Kobayashi, Chiyoko Sato, Akira Fujimura, Sayoko Matsumoto, Yuko Takasato, Minoru Kodama, Tatsuhiko Aburatani, Hiroyuki Asashima, Makoto Yoshida, Nobuaki Nishinakamura, Ryuichi |
| description | 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. |
| doi_str_mv | 10.1242/dev.02457 |
| format | Article |
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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. 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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.</description><subject>Animals</subject><subject>Blastocyst - cytology</subject><subject>Brain - embryology</subject><subject>Cell Culture Techniques</subject><subject>Cell Differentiation</subject><subject>Crosses, Genetic</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Drosophila</subject><subject>Duane Retraction Syndrome - genetics</subject><subject>Genetic Carrier Screening</subject><subject>Genotype</subject><subject>Heart - embryology</subject><subject>Kidney - embryology</subject><subject>Mice</subject><subject>Rectum - embryology</subject><subject>RNA, Small Interfering - genetics</subject><subject>Stem Cells - cytology</subject><subject>Transcription Factors - genetics</subject><subject>Transfection</subject><issn>0950-1991</issn><issn>1477-9129</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUFr3DAUhE1paTZpD_0D5Z0KhfVWsiTLOobQpoWFHJKehWw_r9XI0lbyJuzf6y-rnF3osacHw8cM86YoPlCyoRWvvvT4tCEVF_JVsaJcylLRSr0uVkQJUlKl6EVxmdIvQgirpXxbXNBaKsIlWxV_HkaE6RCtRxjDFFzYQRjg_nq75Wsw0JlDMrN9QthhRqyHu0c72hggHX0fw4RrsAkwJfSzNQ6GEAGnNh6Dtx2kGSfo0DnYx-DsgDGbBZ-dfQ9dCPtFwATPdh7h3jhHlwjjQ8RuNm4NI5o4r6GN5kXv4dH2Ho-QK6ML-ymnviveDMYlfH--V8XPb18fbr6X27vbHzfX27Jjgs2lVGLgVWdaRYSiVBDFCe_bthF0aFAoplDUVFZIGiax5wPn-VCGFZON6Bp2VXw6-eYqvw-YZj3ZtHQzHsMh6bqpmZR1_V-QqkZwUbEMfj6BXQwpRRz0PtrJxKOmRC_L6lxTvyyb2Y9n00M7Yf-PPE-Zgc0JGO1ufLYRdWuXOW2akz6_S1PGNBWaESLYX2-lsKo</recordid><startdate>20060801</startdate><enddate>20060801</enddate><creator>Sakaki-Yumoto, Masayo</creator><creator>Kobayashi, Chiyoko</creator><creator>Sato, Akira</creator><creator>Fujimura, Sayoko</creator><creator>Matsumoto, Yuko</creator><creator>Takasato, Minoru</creator><creator>Kodama, Tatsuhiko</creator><creator>Aburatani, Hiroyuki</creator><creator>Asashima, Makoto</creator><creator>Yoshida, Nobuaki</creator><creator>Nishinakamura, Ryuichi</creator><general>The Company of Biologists Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060801</creationdate><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</title><author>Sakaki-Yumoto, Masayo ; Kobayashi, Chiyoko ; Sato, Akira ; Fujimura, Sayoko ; Matsumoto, Yuko ; Takasato, Minoru ; Kodama, Tatsuhiko ; Aburatani, Hiroyuki ; Asashima, Makoto ; Yoshida, Nobuaki ; Nishinakamura, Ryuichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-795f42cab905911509404dbb851f8e5939e56172e0837ed4f447ed13e23785c83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Animals</topic><topic>Blastocyst - cytology</topic><topic>Brain - embryology</topic><topic>Cell Culture Techniques</topic><topic>Cell Differentiation</topic><topic>Crosses, Genetic</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Drosophila</topic><topic>Duane Retraction Syndrome - genetics</topic><topic>Genetic Carrier Screening</topic><topic>Genotype</topic><topic>Heart - embryology</topic><topic>Kidney - embryology</topic><topic>Mice</topic><topic>Rectum - embryology</topic><topic>RNA, Small Interfering - genetics</topic><topic>Stem Cells - cytology</topic><topic>Transcription Factors - genetics</topic><topic>Transfection</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sakaki-Yumoto, Masayo</creatorcontrib><creatorcontrib>Kobayashi, Chiyoko</creatorcontrib><creatorcontrib>Sato, Akira</creatorcontrib><creatorcontrib>Fujimura, Sayoko</creatorcontrib><creatorcontrib>Matsumoto, Yuko</creatorcontrib><creatorcontrib>Takasato, Minoru</creatorcontrib><creatorcontrib>Kodama, Tatsuhiko</creatorcontrib><creatorcontrib>Aburatani, Hiroyuki</creatorcontrib><creatorcontrib>Asashima, Makoto</creatorcontrib><creatorcontrib>Yoshida, Nobuaki</creatorcontrib><creatorcontrib>Nishinakamura, Ryuichi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Development (Cambridge)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sakaki-Yumoto, Masayo</au><au>Kobayashi, Chiyoko</au><au>Sato, Akira</au><au>Fujimura, Sayoko</au><au>Matsumoto, Yuko</au><au>Takasato, Minoru</au><au>Kodama, Tatsuhiko</au><au>Aburatani, Hiroyuki</au><au>Asashima, Makoto</au><au>Yoshida, Nobuaki</au><au>Nishinakamura, Ryuichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>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</atitle><jtitle>Development (Cambridge)</jtitle><addtitle>Development</addtitle><date>2006-08-01</date><risdate>2006</risdate><volume>133</volume><issue>15</issue><spage>3005</spage><epage>3013</epage><pages>3005-3013</pages><issn>0950-1991</issn><eissn>1477-9129</eissn><abstract>Mutations in SALL4 , the human homolog of the Drosophila homeotic gene spalt ( sal ), cause the autosomal dominant disorder known as Okihiro syndrome. 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| ispartof | Development (Cambridge), 2006-08, Vol.133 (15), p.3005-3013 |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection; Company of Biologists |
| subjects | Animals Blastocyst - cytology Brain - embryology Cell Culture Techniques Cell Differentiation Crosses, Genetic DNA-Binding Proteins - genetics Drosophila Duane Retraction Syndrome - genetics Genetic Carrier Screening Genotype Heart - embryology Kidney - embryology Mice Rectum - embryology RNA, Small Interfering - genetics Stem Cells - cytology Transcription Factors - genetics Transfection |
| 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 |
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