Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer

The American Journal of Human Genetics - Tập 84 - Trang 52-59 - 2009
Yongyu Wang1, Phillip J. Kuan1,2, Chao Xing1, Jennifer T. Cronkhite1, Fernando Torres2, Randall L. Rosenblatt2, J. Michael DiMaio3, Lisa N. Kinch4, Nick V. Grishin4,5, Christine Kim Garcia1,2
1Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
2Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
3Department of Cardiovascular and Thoracic Surgery, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA
4Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX 75390 USA
5Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390 USA

Tài liệu tham khảo

2002, Am. J. Respir. Crit. Care Med., 165, 277, 10.1164/ajrccm.165.2.ats01 Marshall, 2000, Adult familial cryptogenic fibrosing alveolitis in the United Kingdom, Thorax, 55, 143, 10.1136/thorax.55.2.143 Armanios, 2007, Telomerase mutations in families with idiopathic pulmonary fibrosis, N. Engl. J. Med., 356, 1317, 10.1056/NEJMoa066157 Tsakiri, 2007, Adult-onset pulmonary fibrosis caused by mutations in telomerase, Proc. Natl. Acad. Sci. USA, 104, 7552, 10.1073/pnas.0701009104 Cronkhite, 2008, Telomere shortening in familial and sporadic pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 178, 729, 10.1164/rccm.200804-550OC Abecasis, 2002, Merlin—Rapid analysis of dense genetic maps using sparse gene flow trees, Nat. Genet., 30, 97, 10.1038/ng786 Kong, 1997, Allele-sharing models: LOD scores and accurate linkage tests, Am. J. Hum. Genet., 61, 1179, 10.1086/301592 Victor, 2004, The Dallas Heart Study: A population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health, Am. J. Cardiol., 93, 1473, 10.1016/j.amjcard.2004.02.058 Cohen, 2005, Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9, Nat. Genet., 37, 161, 10.1038/ng1509 Wright, 2005, Immunoregulatory functions of surfactant proteins, Nat. Rev. Immunol., 5, 58, 10.1038/nri1528 Mason, 1998, Surfactant protein A and surfactant protein D in health and disease, Am. J. Physiol., 275, L1 Gupta, 2007, Collectins: sentinels of innate immunity, Bioessays, 29, 452, 10.1002/bies.20573 Drickamer, 1988, Two distinct classes of carbohydrate-recognition domains in animal lectins, J. Biol. Chem., 263, 9557, 10.1016/S0021-9258(19)81549-1 Korfhagen, 1998, Surfactant protein A (SP-A) gene targeted mice, Biochim. Biophys. Acta, 1408, 296, 10.1016/S0925-4439(98)00075-1 Head, 2003, Crystal structure of trimeric carbohydrate recognition and neck domains of surfactant protein A, J. Biol. Chem., 278, 43254, 10.1074/jbc.M305628200 Gazdar, 1990, Peripheral airway cell differentiation in human lung cancer cell lines, Cancer Res., 50, 5481 Whitsett, 1985, Glycosylation and secretion of surfactant-associated glycoprotein A, J. Biol. Chem., 260, 15273, 10.1016/S0021-9258(18)95731-5 Hubbard, 2000, Lung cancer and cryptogenic fibrosing alveolitis. A population-based cohort study, Am. J. Respir. Crit. Care Med., 161, 5, 10.1164/ajrccm.161.1.9906062 Beaumont, 1981, Simultaneous occurrence of pulmonary interstitial fibrosis and alveolar cell carcinoma in one family, Thorax, 36, 252, 10.1136/thx.36.4.252 Jones, 1970, Alveolar cell carcinoma occurring in idiopathic interstitial pulmonary fibrosis, Br. J. Dis. Chest, 64, 78, 10.1016/S0007-0971(70)80032-8 Wistuba, 2006, Lung cancer preneoplasia, Annu. Rev. Pathol., 1, 331, 10.1146/annurev.pathol.1.110304.100103 Sumiya, 1991, Molecular basis of opsonic defect in immunodeficient children, Lancet, 337, 1569, 10.1016/0140-6736(91)93263-9 McCormick, 1994, Human SP-A1 and SP-A2 genes are differentially regulated during development and by cAMP and glucocorticoids, Am. J. Physiol., 266, L367 Bridges, 2003, Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice, J. Biol. Chem., 278, 52739, 10.1074/jbc.M309599200 Mulugeta, 2005, A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation, Am. J. Respir. Cell Mol. Biol., 32, 521, 10.1165/rcmb.2005-0009OC Nogee, 2001, A mutation in the surfactant protein C gene associated with familial interstitial lung disease, N. Engl. J. Med., 344, 573, 10.1056/NEJM200102223440805 Thomas, 2002, Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred, Am. J. Respir. Crit. Care Med., 165, 1322, 10.1164/rccm.200112-123OC Korfei, 2008, Epithelial endoplasmic reticulum stress and apoptosis in sporadic idiopathic pulmonary fibrosis, Am. J. Respir. Crit. Care Med., 178, 838, 10.1164/rccm.200802-313OC Evans, 1975, Transformation of alveolar type 2 cells to type 1 cells following exposure to NO2, Exp. Mol. Pathol., 22, 142, 10.1016/0014-4800(75)90059-3 Driscoll, 2000, Telomerase in alveolar epithelial development and repair, Am. J. Physiol. Lung Cell. Mol. Physiol., 279, L1191, 10.1152/ajplung.2000.279.6.L1191 Borron, 2000, Surfactant-associated protein A inhibits LPS-induced cytokine and nitric oxide production in vivo, Am. J. Physiol. Lung Cell. Mol. Physiol., 278, L840, 10.1152/ajplung.2000.278.4.L840