Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome.
Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome.
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DOI：
10.7150/ijbs.47510
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发表时间：
2020
影响因子：
9.2
通讯作者：
Hu W
中科院分区：
文献类型：
--
作者：
Jia S;Wu X;Wu Y;Cui X;Tao B;Zhu Z;Hu W
先前的研究表明，人类Coffin-Siris综合征与SOX 11突变有关。由于纯合子SOX 11突变小鼠出生后不久即死亡，因此没有合适的模型可用于研究Coffin-Siris综合征的致病机制。为了解决这个问题，我们产生了两个可行的纯合斑马鱼突变体，sox 11 am/m和sox 11bm/m。我们发现sox 11 am/m突变体具有Coffin-Siris综合征的特征。sox 11 am/m突变体从3.3hpf胚胎到成年表现出生长缺陷。此外，sox 11 am/m突变体在成人中也表现为小头畸形、瞳孔间距狭窄、软骨发育不全和骨畸形。在单细胞阶段注射sox 11 a mRNA可以挽救生长缺陷。此外，软骨和骨相关基因的表达水平在sox 11 am/m突变体中下调，表明sox 11 a主要通过调节骨骼发育相关基因的表达来影响斑马鱼的生长发育。我们的研究结果表明，sox 11 am/m突变斑马鱼提供了一个潜在的模式系统，以帮助寻找人类Coffin-Siris综合征的致病机制。
A previous study suggested that human Coffin-Siris syndrome is related to the mutation of SOX11. Since the homozygous SOX11 mutant mice died soon after birth, no suitable model was available for the study of the pathogenic mechanism of Coffin-Siris syndrome. To solve this problem, we generated two viable homozygous zebrafish mutants, sox11am/m and sox11bm/m. We found that the sox11am/m mutant possessed Coffin-Siris syndrome features. The sox11am/m mutants exhibited growth deficiency from 3.3 hpf embryos to adulthood. Furthermore, the sox11am/m mutant also displayed microcephaly, narrow pupillary distance, achondroplasia, and bone deformity in adults. Growth deficiency could be rescued by the injection of sox11a mRNA at the one-cell stage. In addition, the expression levels of genes related to cartilage and bone were downregulated in the sox11am/m mutant, indicating that sox11a mainly affected the growth and development of zebrafish by regulating the expression of genes related to skeletal development. Our results indicate that sox11am/m mutant zebrafish offered a potential model system to help with the search for pathogenic mechanisms of human Coffin-Siris syndrome.
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DOI：
10.1016/j.biocel.2009.07.018
发表时间：
2010-03
影响因子：
4
作者：
Penzo-Mendez, Alfredo I.
通讯作者：
Penzo-Mendez, Alfredo I.
DOI：
10.1126/science.1162327
发表时间：
2009-06-26
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Badis G;Berger MF;Philippakis AA;Talukder S;Gehrke AR;Jaeger SA;Chan ET;Metzler G;Vedenko A;Chen X;Kuznetsov H;Wang CF;Coburn D;Newburger DE;Morris Q;Hughes TR;Bulyk ML
通讯作者：
Bulyk ML
影响因子：
30.8
作者：
Boyadjiev, Simeon A.;Fromme, J. Christopher;Eyaid, Wafaa
通讯作者：
Eyaid, Wafaa
影响因子：
30.8
作者：
Lang, Michael R.;Lapierre, Lynne A.;Knapik, Ela W.
通讯作者：
Knapik, Ela W.
拮抗基因旁系同源物UPF3A和UPF3B控制了废话介导的RNA衰变。
影响因子：
64.5
作者：
Shum EY;Jones SH;Shao A;Chousal JN;Krause MD;Chan WK;Lou CH;Espinoza JL;Song HW;Phan MH;Ramaiah M;Huang L;McCarrey JR;Peterson KJ;De Rooij DG;Cook-Andersen H;Wilkinson MF
通讯作者：
Wilkinson MF