Intragenic deletion of tgif causes defects in brain development
文献类型：期刊论文
| 作者 | Kuang, Chenzhong; Xiao, Yan; Yang, Ling; Chen, Qian; Wang, Zhenzhen; Conway, Simon J.; Chen, Yan |
| 刊名 | Human molecular genetics
 |
| 出版日期 | 2006-12-15 |
| 卷号 | 15期号:24页码:3508-3519 |
| ISSN号 | 0964-6906 |
| DOI | 10.1093/hmg/ddl427 |
| 通讯作者 | Chen, yan(ychen3@iupui.edu) |
| 英文摘要 | Tg-interacting factor (tgif) is a homeodomain-containing protein and functions as a transcriptional repressor within the tgf-beta and retinoic acid signaling pathways. heterozygous mutations of tgif have been found in patients with holoprosencephaly (hpe), which is the most common congenital brain malformation in humans. however, targeted null deletions of the entire tgif gene in mice surprisingly revealed no apparent brain defects. we report here that deletion of the third exon of tgif gene resulted in a defined spectrum of brain developmental defects including exencephaly, microcephaly, hpe, and abnormalities in embryonic brain ventricle formation and cleavage. these defects could be detected in mice both heterozygous and homozygous for the targeted tgif deletion. moreover, expression of dorsal-ventral patterning genes including shh, pax6 and nkx2.2 was altered. the ventricular neuroepithelium exhibited focalized increase of cell proliferation rate and resultant tissue expansion. the incidence of brain abnormalities within the mutant mice was dependent on its genetic background, suggesting that additional genetic modifiers functionally interact with tgif during embryonic brain development. the intragenic tgif deletion mouse, therefore, would serve as a useful model that can be used to unravel the genetic complexity implicated in the pathogenesis of hpe. |
| WOS关键词 | SMAD TRANSCRIPTIONAL COREPRESSOR ; SONIC HEDGEHOG ; HOMEOBOX GENE ; MUTATIONS ; PROTEIN ; MICE ; IDENTIFICATION ; PROLIFERATION ; EXPRESSION ; IDENTITY |
| WOS研究方向 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| WOS类目 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000242716200003 |
| 出版者 | OXFORD UNIV PRESS |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2379277 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Chen, Yan |
| 作者单位 | 1.Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA 2.Walther Canc Inst, Indianapolis, IN 46202 USA 3.Chinese Acad Sci, Grad Sch, Shanghai Inst Biol Sci, Inst Nutrit Sci, Shanghai 200031, Peoples R China 4.Indiana Univ, Sch Med, Herman B Wells Ctr Pediat Res, Cardiovasc Dev Grp, Indianapolis, IN 46202 USA |
| 推荐引用方式 GB/T 7714 | Kuang, Chenzhong,Xiao, Yan,Yang, Ling,et al. Intragenic deletion of tgif causes defects in brain development[J]. Human molecular genetics,2006,15(24):3508-3519. |
| APA | Kuang, Chenzhong.,Xiao, Yan.,Yang, Ling.,Chen, Qian.,Wang, Zhenzhen.,...&Chen, Yan.(2006).Intragenic deletion of tgif causes defects in brain development.Human molecular genetics,15(24),3508-3519. |
| MLA | Kuang, Chenzhong,et al."Intragenic deletion of tgif causes defects in brain development".Human molecular genetics 15.24(2006):3508-3519. |
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来源：中国科学院大学
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