Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and evidence of segmental uniparental isodisomy

European Journal of Oral Sciences

Volumn 117, Issue 1, 2009, Pages 20-26

  Callahan, Nicholas ^a   Modesto, Adriana ^a   Deeley, Kathleen ^a   Meira, Raquel ^b   Vieira, Alexandre R ^a,c  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSIDADE LUTERANA DO BRASIL   (Brazil)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Cleft lip and palate; Hypodontia; Linkage disequilibrium; Transcription factors; Uniparental disomy

Indexed keywords

TUMOR NECROSIS FACTOR ALPHA;

ADULT; ARTICLE; CONGENITAL MALFORMATION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETICS; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; HYPODONTIA; INCISOR; MALE; PEDIGREE; PREMOLAR TOOTH; UNIPARENTAL DISOMY;

ADULT; ANODONTIA; BICUSPID; FEMALE; HAPLOTYPES; HUMANS; INCISOR; LINKAGE DISEQUILIBRIUM; LOSS OF HETEROZYGOSITY; MALE; PEDIGREE; TUMOR NECROSIS FACTOR-ALPHA; UNIPARENTAL DISOMY;

EID: 58449110278     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2008.00593.x     Document Type: Article

References (34)

1. Vieira AR. Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review. Am J Epidemiol 2006 163 : 790 810.
2. Dixon MJ, Garner J, Ferguson MWJ. Immunolocalization of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFα) during murine palatogenesis in vivo and in vitro. Anat Embryol 1991 184 : 83 91.
3. Mitchell LE. Transforming growth factor 〈 locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet Epidemiol 1997 14 : 231 240.
4. Ioannidis JPA, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nat Genet 2001 29 : 306 309.
5. Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Shultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynsli DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tunçbilek G, Edwards M, Harkin L, Scott R, Roddick LG. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 2004 75 : 161 173.
6. Lopes LD, Mattos BSC, André M. Anomalies in number of teeth in patients with lip and/or palate clefts. Braz Dent J 1991 2 : 9 17.
7. Roth P, Hirschfelder U. Frequency of tooth agenesis in CLP patients with eruption of all four third molars. Dtsch Zahnarztl Z 1991 46 : 734 736.
8. Vieira AR. Oral clefts and syndromic forms of tooth agenesis may be the best models for genetics of isolated tooth agenesis. J Dent Res 2003 82 : 162 165.
9. Vieira AR, Meira R, Modesto A, Murray JC. MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. J Dent Res 2004 89 : 723 737.
10. Abecasis GR, Cookson WO. GOLD - graphical overview of linkage disequilibrium. Bioinformatics 2000 16 : 182 183.
11. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001 9 : 301 306.
12. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM. Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 2004 26 : 61 69.
13. Ashton GC. Mismatches in genetic markers in a large family study. Am J Hum Genet 1980 32 : 601 613.
14. Schouten JP, McElqunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002 30 : e57.
15. Grabe N. AliBaba2: context specific identification of transcription factor binding sites. In Silico Biol 2002 2 : S1 15.
16. Knuppel R, Dietze P, Lehnberg W, Frech K, Wingender E. TRANSFAC retrieval program: a network model database of eukaryotic transcription regulating sequences and proteins. J Comput Biol 1994 1 : 191 198.
17. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993 52 : 506 516.
18. Machida J, Yoshiura K, Funkhauser CD, Natsume N, Kawai T, Murray JC. Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics 1999 61 : 237 242.
19. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 2005 1 : e64.
20. Smith NG, Brandstrom M, Ellegren H. Evidence for turnover of functional noncoding DNA in mammalian genome evolution. Genomics 2004 84 : 806 813.
21. Stratakis C, Taymans SE, Schteingart D, Haddas BR. Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2. J Med Genet 2001 38 : 106 109.
22. Ralph A, Scott F, Tiernan C, Caubere M, Kollegger S, Junio J, Roberts C, Ewen K, Slater HR. Maternal uniparental isodisomy for chromosome 14 detected prenatally. Prenat Diagn 1999 19 : 681 684.
23. Elagib KE, Racke FK, Mogass M, Khetawat R, Delehanty LL, Goldfarb AN. RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood 2003 101 : 4333 4341.
24. Yamashiro T, Aberg T, Levannon D, Groner Y, Thesleff I. Expression of Runx1, -2 and -3 during tooth, palate and craniofacial bone development. Mech Dev 2002 119 : S107 S110.
25. Copik AJ, Webb MS, Miller AL, Wang Y, Kumar R, Thompson EB. Activation function 1 of glucocorticoid receptor binds TATA-binding protein in vitro and in vivo. Mol Endocrinol 2006 20 : 1218 1230.
26. Li X, Luo Y, Starremans PG, McNamara CA, Pei Y, Zhou J. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor id2. Nat Cell Biol 2005 7 : 1202 1212.
27. Jernvall J, Aberg T, Kettunen P, Keranen S, Thesleff I. The life history of an embryonic signaling center: BMP-4 induces p21 and is associated with apoptosis in the mouse tooth enamel knot. Development 1998 125 : 161 169.
28. Van Heel DA, Udalova IA, Silva AP, McGovern DP, Kinouchi Y, Hull J, Lench NJ, Cardon LR, Carey AH, Jewell DP, Kwiatkowski D. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. Hum Mol Genet 2002 11 : 1281 1289.
29. Liu LR, Du ZW, Zhao HL, Liu XL, Huang XD, Shen J, Ju LM, Fang FD, Zhang JW. T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice. J Biol Chem 2005 280 : 7452 7459.
30. Xue L, Wu J, Zheng W, Wang P, Li J, Zhang Z, Tong T. Sp1 is involved in the transcriptional activation of p16(INK4) by p21 (Waf1) in HeLa cells. FEBS Lett 2004 564 : 199 204.
31. Watt K, Jess TJ, Kelly SM, Price NC, McEwan IJ. Induced alpha-helix structure in the aryl hydrocarbon receptor transactivation domain modulates protein-protein interactions. Biochemistry 2005 18 : 734 743.
32. Sahlberg C, Pohjanvirta R, Gao YG, Alaluusua S, Tuomisto J, Lukinmaa PL. Expression of the mediators of dioxin toxicity, aryl hydrocarbon receptor (AHR) and the AHR nuclear translocator (ARNT) is developmentally regulated in mouse teeth. Int J Dev Biol 2002 46 : 295 300.
33. Hinrichs AS, Karolchik D, Baertsch R, Barber GP, Bejerano G, Clawson H, Diekhans M, Furey TS, Harte RA, Hsu F, Hillman-Jackson J, Kuhn RM, Pedersen JS, Pohl A, Raney BJ, Rosenbloom KR, Siepel A, Smith KE, Sugnet CW, Sultan-Qurraie A, Thomas DJ, Trumbower H, Weber RJ, Weirauch M, Zweig AS, Haussler D, Kent WJ. The UCSC Genome Browser Database: update 2006. Nucleic Acids Res 2006 34 : D590 D598.
34. Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, Clawson H, Spieth J, Hillier LW, Richards S, Weinstock GM, Wilson RK, Gibbs RA, Kent WJ, Miller W, Haussler D. Evolutionary conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 2005 15 : 1034 1050.