Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription

Pediatric Research

Volumn 68, Issue 3, 2010, Pages 216-220

  Wambach, Jennifer A ^a   Yang, Ping ^a   Wegner, Daniel J ^a   An, Ping ^a   Hackett, Brian P ^a   Cole, F S ^a   Hamvas, Aaron ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIREFLY LUCIFERASE; SURFACTANT PROTEIN C;

ALLELE; ARTICLE; BINDING SITE; CASE CONTROL STUDY; EUROPE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC RISK; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; GESTATIONAL AGE; HIGH MOBILITY GROUP BOX DOMAIN; HUMAN; IN VITRO STUDY; INFANT; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN METHYLATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL LINE, TUMOR; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HUMANS; INFANT, NEWBORN; LINKAGE DISEQUILIBRIUM; LOGISTIC MODELS; LUCIFERASES; MICE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC; UNTRANSLATED REGIONS;

EID: 77955609910     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181eb5d68     Document Type: Article

References (34)

1. Farrell PM, Avery ME 1975 Hyaline membrane disease. Am Rev Respir Dis111:657-688
2. Myrianthopoulos NC, Churchill JA, Baszynski AJ 1971 Respiratory distress syndromein twins. Acta Genet Med Gemellol (Roma) 20:199-204
3. Van Sonderen L, Halsema EF, Spiering EJ, Koppe JG 2002 Genetic influences inrespiratory distress syndrome: a twin study. Semin Perinatol 26:447-449
4. Hallman M, Haataja R 2006 Surfactant protein polymorphisms and neonatal lungdisease. Semin Perinatol 30:350-361
5. Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA 2000 Allelic heterogeneityin hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med161:973-981
6. Nogee LM, Dunbar AE III, Wert S, Askin F, Hamvas A, Whitsett JA 2002 Mutationsin the surfactant protein C gene associated with interstitial lung disease. Chest121:20S-21S
7. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M 2004 ABCA3 genemutations in newborns with fatal surfactant deficiency. N Engl J Med 350:1296-1303
8. Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K,An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A 2008Population and disease-based prevalence of the common mutations associated withsurfactant deficiency. Pediatr Res 63:645-649
9. Cheng YW, Nicholson JM, Nakagawa S, Bruckner TA, Washington AE, CaugheyAB 2008 Perinatal outcomes in low-risk term pregnancies: do they differ by week ofgestation? Am J Obstet Gynecol 199:370.e371-370.e377
10. Ananth CV, Gyamfi C, Jain L 2008 Characterizing risk profiles of infants who aredelivered at late preterm gestations: does it matter? Am J Obstet Gynecol 199:329-331
11. Bastek JA, Sammel MD, Pare E, Srinivas SK, Posencheg MA, Elovitz MA 2008Adverse neonatal outcomes: examining the risks between preterm, late preterm, andterm infants. Am J Obstet Gynecol 199:367.e361-367.e368
12. Whitsett JA, Weaver TE 2002 Hydrophobic surfactant proteins in lung function anddisease. N Engl J Med 347:2141-2148
13. Beers MF, Mulugeta S 2005 Surfactant protein C biosynthesis and its emerging rolein conformational lung disease. Annu Rev Physiol 67:663-696
14. Khoor A, Stahlman MT, Gray ME, Whitsett JA 1994 Temporal-spatial distributionof SP-B and SP-C proteins and mRNAs in developing respiratory epithelium ofhuman lung. J Histochem Cytochem 42:1187-1199
15. Liley HG, White RT, Warr RG, Benson BJ, Hawgood S, Ballard PL 1989 Regulationof messenger RNAs for the hydrophobic surfactant proteins in human lung. J ClinInvest 83:1191-1197
16. Solarin KO, Ballard PL, Guttentag SH, Lomax CA, Beers MF 1997 Expression andglucocorticoid regulation of surfactant protein C in human fetal lung. Pediatr Res42:356-364
17. Nogee LM, Dunbar AE III, Wert SE, Askin F, Hamvas A, Whitsett JA 2001 Amutation in the surfactant protein C gene associated with familial interstitial lungdisease. N Engl J Med 344:573-579
18. Thomas AQ, Lane K, Phillips J III, Prince M, Markin C, Speer M, Schwartz DA,Gaddipati R, Marney A, Johnson J, Roberts R, Haines J, Stahlman M, Loyd JE 2002Heterozygosity for a surfactant protein C gene mutation associated with usualinterstitial pneumonitis and cellular nonspecific interstitial pneumonitis in onekindred. Am J Respir Crit Care Med 165:1322-1328
19. Hamvas A, Cole FS, Nogee LM 2007 Genetic disorders of surfactant proteins.Neonatology 91:311-317
20. Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, DeutschG, Nogee LM 2005 A common mutation in the surfactant protein C gene associatedwith lung disease. J Pediatr 146:370-375
21. Lahti M, Marttila R, Hallman M 2004 Surfactant protein C gene variation in theFinnish population-association with perinatal respiratory disease. Eur J Hum Genet12:312-320
22. McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, SaugstadOD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, HamvasA 2008 Recombination as a mechanism for sporadic mutation in the surfactantprotein-C gene. Pediatr Pulmonol 43:443-450
23. Perelman RH, Palta M, Kirby R, Farrell PM 1986 Discordance between male andfemale deaths due to the respiratory distress syndrome. Pediatrics 78:238-244
24. Benjamini Y, Drai D, Elmer G, Kafkafi N, Golani I 2001 Controlling the falsediscovery rate in behavior genetics research. Behav Brain Res 125:279-284
25. Wikenheiser KA, Vorbroker DK, Rice WR, Clark JC, Bachurski CJ, Oie HK,Whitsett JA 1993 Production of immortalized distal respiratory epithelial cell linesfrom surfactant protein C/simian virus 40 large tumor antigen transgenic mice. ProcNatl Acad Sci USA 90:11029-11033
26. Kelly SE, Bachurski CJ, Burhans MS, Glasser SW 1996 Transcription of thelung-specific surfactant protein C gene is mediated by thyroid transcription factor 1.J Biol Chem 271:6881-6888
27. Rockman MV, Wray GA 2002 Abundant raw material for cis-regulatory evolutionin humans. Mol Biol Evol 19:1991-2004
28. Steagall WK, Lin JP, Moss J 2007 The C/A(-18) polymorphism in the surfactantprotein B gene influences transcription and protein levels of surfactant protein B.Am J Physiol Lung Cell Mol Physiol 292:L448-L453
29. Thomas KH, Meyn P, Suttorp N 2006 Single nucleotide polymorphism in 5-flanking region reduces transcription of surfactant protein B gene in H441 cells.Am J Physiol Lung Cell Mol Physiol 291:L386-L390
30. Wray GA 2007 The evolutionary significance of cis-regulatory mutations. Nat RevGenet 8:206-216
31. Glasser SW, Burhans MS, Korfhagen TR, Na CL, Sly PD, Ross GF, Ikegami M,Whitsett JA 2001 Altered stability of pulmonary surfactant in SP-C-deficient mice.Proc Natl Acad Sci USA 98:6366-6371
32. Lawson WE, Polosukhin VV, Stathopoulos GT, Zoia O, Han W, Lane KB, Li B,Donnelly EF, Holburn GE, Lewis KG, Collins RD, Hull WM, Glasser SW, WhitsettJA, Blackwell TS 2005 Increased and prolonged pulmonary fibrosis in surfactantprotein C-deficient mice following intratracheal bleomycin. Am J Pathol 167:1267-1277
33. Ikegami M, Weaver TE, Conkright JJ, Sly PD, Ross GF, Whitsett JA, Glasser SW2002 Deficiency of SP-B reveals protective role of SP-C during oxygen lung injury.J Appl Physiol 92:519-526
34. Richardson DK, Torday JS 1994 Racial differences in predictive value of thelecithin/sphingomyelin ratio. Am J Obstet Gynecol 170:1273-1278