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
Masayo Sakaki-YumotoRyuichi Nishinakamura

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.

References

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

❮ Previous
Next ❯

Citations

Feb 22, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ryuichi NishinakamuraSayoko Fujimura
Aug 4, 2007·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·P Jeremy Wang, Jieyan Pan
Nov 28, 2008·In Vitro Cellular & Developmental Biology. Animal·Akihiro NakaneRyuichi Nishinakamura
Feb 17, 2010·International Journal of Hematology·Shinji Masui
Jan 25, 2011·Pathology Oncology Research : POR·Jeremy DeischDinesh Rakheja
Jul 16, 2010·Cell Research·Lingyi ChenGeorge Q Daley
Oct 13, 2009·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Kaiyong MeiDengfeng Cao
Mar 28, 2007·Nature Reviews. Genetics·Patrick P L Tam, David A F Loebel
Jan 21, 2009·Reproduction, Fertility, and Development·Tetsuya S Tanaka
Dec 9, 2008·Proceedings of the National Academy of Sciences of the United States of America·Jianchang YangYupo Ma
May 5, 2010·Proceedings of the National Academy of Sciences of the United States of America·Yukako UchiyamaRyuichi Nishinakamura
Apr 12, 2012·Proceedings of the National Academy of Sciences of the United States of America·Konstantinos KagiasSophie Jarriault
Nov 11, 2010·The Journal of Biological Chemistry·Efthimia KarantzaliAndroniki Kretsovali
Dec 1, 2011·The Journal of Biological Chemistry·Jianchang YangYupo Ma
Nov 26, 2009·Brain : a Journal of Neurology·A James BarkovichWilliam B Dobyns
Jan 8, 2010·Journal of Biochemistry·Qing JiangRyuichi Nishinakamura
Jan 13, 2009·Toxicological Sciences : an Official Journal of the Society of Toxicology·Måns JergilMichael Stigson
Jan 14, 2011·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Chang K SungThomas L Benjamin
Apr 7, 2007·Current Opinion in Cardiology·Constance G Weismann, Bruce D Gelb
May 5, 2012·Current Opinion in Hematology·Jianchang YangYupo Ma
Apr 25, 2009·The American Journal of Surgical Pathology·Dengfeng CaoPeter A Humphrey
Mar 8, 2012·Annals of Plastic Surgery·Mohammad M Al-Qattan
Apr 21, 2010·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Bart T PhillipsKyle E Orwig
Mar 20, 2010·Development, Growth & Differentiation·Kazutoshi Takahashi
Sep 15, 2010·Molecular and Cellular Biology·Sridhar RaoStuart H Orkin
Jan 27, 2009·Development·Yasuhiko KawakamiJuan Carlos Izpisua Belmonte
Jun 15, 2007·PLoS Genetics·Helen LiuHoward Y Chang
Dec 14, 2011·Critical Reviews in Oncogenesis·Chong GaoLi Chai
Mar 20, 2010·Journal of the American Society of Nephrology : JASN·Sayoko FujimuraRyuichi Nishinakamura
May 14, 2010·Future Cardiology·Antonella CecchettoLuciano Daliento
Nov 20, 2014·Cell Regeneration·Guangming Wu, Hans R Schöler
Oct 18, 2007·Proceedings of the National Academy of Sciences of the United States of America·Qing ZhouWing Hung Wong
Oct 22, 2010·Current Opinion in Endocrinology, Diabetes, and Obesity·Yusuke Miyanari, Maria-Elena Torres-Padilla
Jan 23, 2016·European Journal of Medical Genetics·Leandro Ucela AlvesRegina Célia Mingroni-Netto
Mar 4, 2015·The Journal of Cell Biology·Jianhua XiongYang Xu

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.