Global genetic analysis in mice unveils central role for cilia in congenital heart disease

• Published in: Nature (London) Vol. 521; no. 7553; pp. 520 - 524
• Main Authors: Li, You, Klena, Nikolai T., Gabriel, George C., Liu, Xiaoqin, Kim, Andrew J., Lemke, Kristi, Chen, Yu, Chatterjee, Bishwanath, Devine, William, Damerla, Rama Rao, Chang, Chienfu, Yagi, Hisato, San Agustin, Jovenal T., Thahir, Mohamed, Anderton, Shane, Lawhead, Caroline, Vescovi, Anita, Pratt, Herbert, Morgan, Judy, Haynes, Leslie, Smith, Cynthia L., Eppig, Janan T., Reinholdt, Laura, Francis, Richard, Leatherbury, Linda, Ganapathiraju, Madhavi K., Tobita, Kimimasa, Pazour, Gregory J., Lo, Cecilia W.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 28.05.2015; Nature Publishing Group
• Subjects: 14/19; 14/63; 45; 45/23; 45/70; 631/208; 64/60; Animals; Birth defects; Cardiovascular disease; Cardiovascular diseases; Cilia - diagnostic imaging; Cilia - genetics; Cilia - pathology; Cilia - physiology; Cilia and ciliary motion; Congenital diseases; Congenital heart disease; Defects; DNA Mutational Analysis; Electrocardiography; Embryos; Exome - genetics; Fetuses; Genes, Recessive; Genetic aspects; Genetic Testing; Genetics; Genotype & phenotype; Heart Defects, Congenital - diagnostic imaging; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Human populations; Humanities and Social Sciences; Humans; letter; Male; Mice; Mice, Inbred C57BL; multidisciplinary; Mutation; Mutation - genetics; Pathogenesis; Proteins; Rodents; Science; Signal Transduction; Ultrasonography; Pennsylvania

A forward genetic screen in fetal mice to identify genes involved in congenital heart disease (CHD) reveals that a large proportion of genes associated with CHD are related to cilia and cilia-transduced cell signalling, with potential implications for the human disease. Cilia defects in congenital h...