The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews

Journal of Cystic Fibrosis - Tập 17 - Trang e41-e45 - 2018
M. Mei-Zahav1,2, P. Stafler1,2, H. Senderowitz3, L. Bentur4,5, G. Livnat5,6, M. Shteinberg5,6, N. Orenstein2,7, L. Bazak2,7, D. Prais1,2, H. Levine1,2, M. Gur4, N. Khazanov3, L. Simhaev8, H. Eliyahu9, M. Cohen9, M. Wilschanski9, H. Blau1,2, H. Mussaffi1,2
1Kathy and Lee Graub Cystic Fibrosis Center and Pulmonary Unit, Schneider Children’s Medical Center of Israel, Petah Tikva, Israel
2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
3Department of Chemistry, Bar-Ilan University, Ramat Gan, Israel
4Pediatric Pulmonary Institute, Ruth Rappaport Children's Hospital, Rambam health Care Campus, Israel
5Rappaport Faculty of Medicine, Technion - Institute of Technology, Haifa, Israel
6Cystic Fibrosis Center, Carmel Hospital, Israel
7Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
8Department of Chemistry, Bar-Ilan University, Ramat-Gan, Israel
9Electrophysiology Laboratory, Hadassah Hebrew University Medical Center, Jerusalem, Israel

Tài liệu tham khảo

Rosenstein, 1998, Cystic fibrosis, Lancet, 351, 277, 10.1016/S0140-6736(97)09174-5 Shoshani, 1993, A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews, Genomics, 2003, 236, 10.1006/geno.1993.1046 http://www.genet.sickkids.on.ca - accessed 28.2.18. The Clinical and Functional TRanslation of CFTR (CFTR2); available at http://cftr2.org - accessed 28.2.18. Mornon, 2015, Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics, Cell Mol Life Sci, 72, 1377, 10.1007/s00018-014-1749-2 Zhang, 2017, Conformational changes of CFTR upon phosphorylation and ATP, Bindin Cell, 170 Behar, 2017, Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening, Mol Genet Genomic Med, 5, 223, 10.1002/mgg3.278 Farrell, 2017, Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation, Pediatrics, 181S Quanjer, 2012, Global Lungs Initiative. Age- and height-based prediction bias in spirometry reference equations, Eur Respir J, 40, 190, 10.1183/09031936.00161011 Schymkowitz, 2005, The FoldX web server: an online force field, Nucleic Acids Res, 33, W382, 10.1093/nar/gki387 Guerois, 2002, Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations, J Mol Biol, 320, 369, 10.1016/S0022-2836(02)00442-4 Schymkowitz, 2005, Prediction of water and metal binding sites and their affinities by using the Fold-X force field, Proc Natl Acad Sci U S A, 102, 10147, 10.1073/pnas.0501980102 Wilschanski, 2001, Nasal potential difference measurements in patients with atypical cystic fibrosis, Eur Respir J, 17, 1208, 10.1183/09031936.01.00092501 De, 2011, New clinical diagnostic procedures for cystic fibrosis in Europe, J Cyst Fibros, 10, S53 Highsmith, 1997, Identification of a splice site mutation (2789 + 5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis, Hum Mutat, 9, 332, 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7 Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057 Wang, 2010, Annovar. Functional annotation of genetic variants from next-generation sequencing data, Nucleic Acids Res, 38, 10.1093/nar/gkq603 Kos, 2009, C. The ATP-binding cassette family: a structural perspective, Cell Mol Life Sci, 66, 3111, 10.1007/s00018-009-0064-9 Locher, 2009, Structure and mechanism of ATP-binding cassette transporters, Philos Trans R Soc Lond B Biol Sci, 364, 239, 10.1098/rstb.2008.0125 Linsdell, 2017, Architecture and functional properties of the CFTR channel pore, Cell Mol Life Sci, 74, 67, 10.1007/s00018-016-2389-5 Bai, 2010, Dual roles of the sixth transmembrane segment of the CFTR chloride channel in gating and permeation, J Gen Physiol, 136, 293, 10.1085/jgp.201010480 Norimatsu, 2012, Cystic fibrosis transmembrane conductance regulator: a molecular model defines the architecture of the anion conduction path and locates a “bottleneck” in the pore, Biochemistry, 51, 2199, 10.1021/bi201888a