Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene

Pediatric Pulmonology

Volumn 43, Issue 5, 2008, Pages 443-450

  McBee, Amy D ^a   Wegner, Daniel J ^a   Carlson, Christopher S ^b   Wambach, Jennifer A ^a   Yang, Ping ^a   Heins, Hillary B ^a   Saugstad, Ola D ^c   Trusgnich, Michelle A ^a   Watkins Torry, Julie ^a   Nogee, Lawrence M ^d   Henderson, Howard ^e   Cole, F Sessions ^a   Hamvas, Aaron ^a,f  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Fred Hutchinson Cancer Research Center   (United States)

^c UNIVERSITY OF OSLO   (Norway)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF CAPE TOWN   (South Africa)

^f ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

Children; Genetics; Haplotype; Interstitial lung disease; Linkage disequilibrium

Indexed keywords

SURFACTANT PROTEIN B; SURFACTANT PROTEIN C;

ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DEMETHYLATION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; INFANT; INTERSTITIAL LUNG DISEASE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SOMATIC MUTATION;

AFRICAN AMERICANS; ALLELES; BAYES THEOREM; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HAPLOTYPES; HUMANS; INFANT; LUNG DISEASES, INTERSTITIAL; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RECOMBINATION, GENETIC; SEX FACTORS;

EID: 43249098873     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.20782     Document Type: Article

References (34)

1. Whitsett J, Weaver TE. Mechanisms of disease: hydrophobic surfactant proteins in lung function and disease. N Engl J Med 2002;347:2141-2148.
2. Beers M, Lomax CA, Russo SJ. Synthetic processing of Surfactant Protein C by alveolar epithelial cells. J Biol Chem 1998;273:15287-15293.
3. Nogee L, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994;93:1860-1863.
4. Cole F, Hamvas A, Rubinstein P, King E, Trusgnich M, Nogee LM, deMello DE, Colten HR. Population-based estimates of surfactant protein B deficiency. Pediatrics 2000;105:538-541.
5. Nogee L, Dunbar AE III, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001;344:573-579.
6. Thomas A, Lane K, Phillips J, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, Roberts R, Haines J, Stahlman M, Loyd JE. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Resp Crit Care Med 2002; 165:1322-1328.
7. Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet 2004;126A: 18-26.
8. Nogee L, de Mello DE, Dehner LP, Colten HR. Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993;328:406-410.
9. Shulenin SNL, Annuo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350:1296-1303.
10. Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res 2007;62:170-175.
11. Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boelle PY, Elion J, Jeanpierre M, Feingold J, couderc R, Bahuau M. Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. Am J Med Genet A 2006;140:62-69.
12. Hamvas A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol 2006;30:316-326.
13. Cameron H, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005;146:370-375.
14. Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL. Progressive lung disease and surfactant dysfunction with a deletion of surfactant protein C gene. Am J Resp Cell Mol Biol 2004;30:771-776.
15. Bullard J, Nogee LM. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein-C gene (SFTPC) mutation. Pediatr Res 2007;62:176-179.
16. Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, Cole FS. Population-based screening for rare mutations: high throughput DNA extraction and amplification from Guthrie cards. Pediatr Res 2001;50:666-668.
17. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003;73:1162-1169.
18. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978-989.
19. Crawford D, Bhangale T, Li N, Hellenthal G, Rieder MJ, Nickerson DA, Stephens M. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet 2004;36:700-706.
20. Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet 2001;27:234-236.
21. Yusen R, Cohen AH, Hamvas A. Normal lung function in subjects heterozygous for surfactant protein B deficiency. Am J Resp Crit Care Med 1999;159:411-414.
22. Hess S, Blake JD, Blake RD. Wide variations in neighbor-dependent substitution rates. J Mol Biol 1994;236:1022-1033.
23. Neale M, Keeney S. Clarifying the mechanics of DNA strand exchange in meiotic recombination. Nature 2006;442:153-158.
24. Berlin S, Brandstrom M, Backstrom N, Axelsson E, Smith N, Ellegren H. Substitution rate heterogeneity and the male mutation bias. J Mol Evol 2006;62:226-233.
25. Carlson K, Bracamontes J, Jackson CE, Clark R, Lacroix A, Wells SA, Goodfellow PJ. Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 1994;55:1076-1082.
26. Ardlie K, Liu-Cordero SN, Eberle MA, Daly M, Barrett J, Winchester E, Lander ES, Krugylak L. Lower-than-expected linkage disequilibrium between tightly linked markersin humans suggests a role for gene conversion. Am J Hum Genet 2001;69: 582-589.
27. Helleday T. Pathways for mitotic homologous recombination in mammalian cells. Mut Res 2003;532:103-115.
28. Erickson R. Somatic gene mutation and human disease other than cancer. Mut Res 2003;543:125-136.
29. Gollob M, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L, Bai D. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Eng J Med 2006;345:2677-2688.
30. Beck J, Poulter M, Campbell TA, Uphill JB, Adamson G, Gedes JF, Revesz T, Davis MB, Wood NW, Collinge J, Tabrizi SJ. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum Mol Genet 2004;13:1219-1224.
31. Franz D. Diagnosis and management of Tuberous Sclerosis Complex. Semin Pediatr Neurol 1998;5:253-268.
32. Lee N, Norton JA. Multiple endocrine neoplasia type 2B-genetic basis and clinical expression. Surg Oncol 2000;9:111-118.
33. Russell K, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Dominant paternal transmission of Cornelia de Lange Syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet 2001;104:267-276.
34. Lacz NL, Schwartz RA, Kihiczak G. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. Int J Dermatol 2005; 44:1-6.