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本文引用的文献

1
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.SATB2 的小缺失会导致 2q33.1 微缺失综合征的部分临床特征。
PLoS One. 2009 Aug 10;4(8):e6568. doi: 10.1371/journal.pone.0006568.
2
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.与学习障碍和腭裂相关的2号染色体2q33.1带区4.5兆碱基微缺失
Eur J Med Genet. 2009 Nov-Dec;52(6):454-7. doi: 10.1016/j.ejmg.2009.06.003. Epub 2009 Jul 1.
3
MicroRNA Mirn140 modulates Pdgf signaling during palatogenesis.微小RNA Mirn140在腭发育过程中调节血小板衍生生长因子信号通路。
Nat Genet. 2008 Mar;40(3):290-8. doi: 10.1038/ng.82. Epub 2008 Feb 10.
4
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.与腭裂、骨质疏松症和认知缺陷相关的杂合性无义突变SATB2
Hum Mutat. 2007 Jul;28(7):732-8. doi: 10.1002/humu.20515.
5
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.Satb2单倍体不足模拟2q32 - q33缺失,而缺失表明其在颌骨发育协调中起重要作用。
Am J Hum Genet. 2006 Oct;79(4):668-78. doi: 10.1086/508214. Epub 2006 Aug 30.
6
Molecular control of secondary palate development.继发腭发育的分子调控
Dev Biol. 2007 Jan 15;301(2):309-26. doi: 10.1016/j.ydbio.2006.07.042. Epub 2006 Aug 5.
7
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.SATB2是颅面模式形成和成骨细胞分化的多功能决定因素。
Cell. 2006 Jun 2;125(5):971-86. doi: 10.1016/j.cell.2006.05.012.
8
Early Hedgehog signaling from neural to oral epithelium organizes anterior craniofacial development.从神经上皮到口腔上皮的早期刺猬信号通路调控前颅面部发育。
Development. 2006 Mar;133(6):1069-77. doi: 10.1242/dev.02281. Epub 2006 Feb 15.
9
Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.IRF6的小鼠和鸡直系同源基因的发育表达分析:该基因在范德伍德综合征中发生突变。
Dev Dyn. 2006 May;235(5):1441-7. doi: 10.1002/dvdy.20598.
10
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.通过对4例患者的临床和分子特征定义的2号染色体(q32.2q33)缺失综合征
Eur J Med Genet. 2005 Jul-Sep;48(3):276-89. doi: 10.1016/j.ejmg.2005.05.005.

跨物种 Satb2 表达分析表明其在脊椎动物谱系中深度保守。

A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages.

机构信息

Faculty of Life Sciences and Dental School, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, United Kingdom.

出版信息

Dev Dyn. 2010 Dec;239(12):3481-91. doi: 10.1002/dvdy.22483.

DOI:10.1002/dvdy.22483
PMID:21089028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3058410/
Abstract

Mutation of SATB2 causes cleft palate in humans. To understand the role of SATB2 function in palatogenesis, SATB2 analyses in vertebrate model systems will be essential. To facilitate these analyses, we have performed a cross-species comparison of SATB2 structure and function across three vertebrate model systems: mouse, chick, and zebrafish. We find that the SATB2 transcript is highly conserved across human, mouse, chick, and zebrafish, especially within the Satb2 functional domains. Furthermore, our expression analyses demonstrate that SATB2 is likely to have similar functions in vertebrate model organisms and humans during development of the facial processes and secondary palate. Together, these data suggest an evolutionary conserved role for SATB2 during development of the face and palate across vertebrates. Moreover, expression of zebrafish satb2 in the anterior neurocranium supports the utility of the anterior neurocranium as a simplified model of amniote palatogenesis.

摘要

SATB2 突变导致人类腭裂。为了了解 SATB2 功能在腭形成中的作用,在脊椎动物模型系统中对 SATB2 进行分析将是至关重要的。为了促进这些分析,我们在三个脊椎动物模型系统:小鼠、鸡和斑马鱼中进行了 SATB2 结构和功能的跨物种比较。我们发现 SATB2 转录本在人类、小鼠、鸡和斑马鱼中高度保守,尤其是在 Satb2 功能结构域内。此外,我们的表达分析表明,SATB2 在面部过程和次级腭的发育过程中,可能在脊椎动物模型生物和人类中具有相似的功能。这些数据共同表明,SATB2 在脊椎动物面部和腭的发育过程中具有进化保守的作用。此外,斑马鱼 satb2 在颅前神经嵴中的表达支持了颅前神经嵴作为羊膜动物腭形成简化模型的实用性。