A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
作者： Emily S. Noël , Tarek S. Momenah , Khalid Al-Dagriri , Abdulrahman Al-Suwaid , Safar Al-Shahrani
DOI: 10.1002/HUMU.22928
关键词: Cell biology 、 Laterality 、 Cilium 、 Dextrocardia 、 Biology 、 Mutation 、 Zebrafish 、 Loss function 、 Heterotaxy 、 Lateral line 、 Anatomy
摘要: Establishing correct left–right asymmetry during embryonic development is crucial for proper asymmetric positioning of the organs. Congenital heart defects, such as dextrocardia, transposition of the arteries, and inflow or outflow tract malformations, comprise some of the most common birth defects and may be attributed to incorrect establishment of body laterality. Here, we identify new patients with dextrocardia who have mutations in CFAP53, a coiled‐coil domain containing protein. To elucidate the mechanism by which CFAP53 …
narcis.nl参考文章(42)
Jeroen Bakkers, Manon C. Verhoeven, Salim Abdelilah-Seyfried, Shaping the zebrafish heart: from left-right axis specification to epithelial tissue morphogenesis. Developmental Biology. ,vol. 330, pp. 213- 220 ,(2009) , 10.1016/J.YDBIO.2009.04.011
Woong Y Hwang, Yanfang Fu, Deepak Reyon, Morgan L Maeder, Shengdar Q Tsai, Jeffry D Sander, Randall T Peterson, J-R Joanna Yeh, J Keith Joung, Efficient genome editing in zebrafish using a CRISPR-Cas system Nature Biotechnology. ,vol. 31, pp. 227- 229 ,(2013) , 10.1038/NBT.2501
Costanza Lamperti, Mingyan Fang, Federica Invernizzi, Xuanzhu Liu, Hairong Wang, Qing Zhang, Franco Carrara, Isabella Moroni, Massimo Zeviani, Jianguo Zhang, Daniele Ghezzi, None, A novel homozygous mutation in SUCLA2 gene identified by exome sequencing Molecular Genetics and Metabolism. ,vol. 107, pp. 403- 408 ,(2012) , 10.1016/J.YMGME.2012.08.020
Matthew Swisher, Richard Jonas, Xin Tian, Elaine S. Lee, Cecilia W. Lo, Linda Leatherbury, Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy The Journal of Thoracic and Cardiovascular Surgery. ,vol. 141, pp. 637- 644.e3 ,(2011) , 10.1016/J.JTCVS.2010.07.082
B. Afzelius, A human syndrome caused by immotile cilia Science. ,vol. 193, pp. 317- 319 ,(1976) , 10.1126/SCIENCE.1084576
Jeffrey J Essner, Jeffrey D Amack, Molly K Nyholm, Erin B Harris, H Joseph Yost, Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut. Development. ,vol. 132, pp. 1247- 1260 ,(2005) , 10.1242/DEV.01663
Abel González-Pérez, Nuria López-Bigas, Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel American Journal of Human Genetics. ,vol. 88, pp. 440- 449 ,(2011) , 10.1016/J.AJHG.2011.03.004
S. S. Lopes, R. Lourenco, L. Pacheco, N. Moreno, J. Kreiling, L. Saude, Notch signalling regulates left-right asymmetry through ciliary length control Development. ,vol. 137, pp. 3625- 3632 ,(2010) , 10.1242/DEV.054452
Jing Hu, Pauline C. Ng, SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins PLOS ONE. ,vol. 8, pp. 1- 1 ,(2013) , 10.1371/JOURNAL.PONE.0077940
Aidas Nasevicius, Stephen C. Ekker, Effective targeted gene ‘knockdown’ in zebrafish Nature Genetics. ,vol. 26, pp. 216- 220 ,(2000) , 10.1038/79951