Genetic analysis of the TBX1 gene promoter in indirect inguinal hernia

Gene

Volumn 535, Issue 2, 2014, Pages 290-293

  Zhang, Yu ^a   Han, Qingluan ^a   Li, Chunyu ^a   Li, Wei ^a   Fan, Hongjin ^a   Xing, Qining ^a   Yan, Bo ^a  

^a JINING MEDICAL UNIVERSITY   (China)

Author keywords

DSV; Genetics; Indirect inguinal hernia; Promoter; TBX1

Indexed keywords

ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FIBROBLAST; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; INDIRECT INGUINAL HERNIA; INFANT; INGUINAL HERNIA; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TBX1 GENE; TRANSCRIPTION INITIATION SITE;

DNA SEQUENCE VARIANTS; DSV; DSVS; FGF10; FGF8; FIBROBLAST GROWTH FACTOR 10; FIBROBLAST GROWTH FACTOR 8; FORKHEAD BOX FACTOR A2; FOXA2; GENETICS; IIH; INDIRECT INGUINAL HERNIA; PAIRED-LIKE HOMEODOMAIN FACTOR 2; PITX2; PROMOTER; SINGLE NUCLEOTIDE POLYMORPHISMS; SNPS; T-BOX TRANSCRIPTION FACTOR 1; TBX1;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HERNIA, INGUINAL; HUMANS; INFANT; MALE; PHENOTYPE; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA; T-BOX DOMAIN PROTEINS;

EID: 84891145200     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.012     Document Type: Article

References (47)

1. Amenta S., et al. Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population. Pediatr. Res. 2005, 57:789-795.
2. Antoniou G.A., et al. Assessment of insertion/deletion polymorphism of the angiotensin-converting enzyme gene in abdominal aortic aneurysm and inguinal hernia. Vascular 2013, 21:1-5.
3. Barnett C., Langer J.C., Hinek A., Bradley T.J., Chitayat D. Looking past the lump: genetic aspects of inguinal hernia in children. J. Pediatr. Surg. 2009, 44:1423-1431.
4. Burcharth J., Pommergaard H.C., Rosenberg J. The inheritance of groin hernia: a systematic review. Hernia 2013, 17:183-189.
5. Chieffo C., et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 1997, 43:267-277.
6. Dastjerdi A., et al. Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm. Dev. Dyn. 2007, 236:353-363.
7. de Wilde J., Hulshof M.F., Boekschoten M.V., de Groot P., Smit E., Mariman E.C. The embryonic genes Dkk3, Hoxd8, Hoxd9 and Tbx1 identify muscle types in a diet-independent and fiber-type unrelated way. BMC Genomics 2010, 11:176.
8. Finkbohner R., Johnston D., Crawford E.S., Coselli J., Milewicz D.M. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 1995, 91:728-733.
9. Freyer L., Morrow B.E. Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle. Dev. Dyn. 2010, 239:1708-1722.
10. Fulcoli F.G., Huynh T., Scambler P.J., Baldini A. Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS One 2009, 4:e6049.
11. Garg V., Yamagishi C., Hu T., Kathiriya I.S., Yamagishi H., Srivastava D. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev. Biol. 2001, 235:62-73.
12. Goldberg R., Motzkin B., Marion R., Scambler P.J., Shprintzen R.J. Velo-cardio-facial syndrome: a review of 120 patients. Am. J. Med. Genet. 1993, 45:313-319.
13. Gong Y., et al. Genetic study of indirect inguinal hernia. J. Med. Genet. 1994, 31:187-192.
14. Gong W., et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet. 2001, 38:E45.
15. Griffin H.R., et al. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart 2010, 96:1651-1655.
16. Grifone R., Jarry T., Dandonneau M., Grenier J., Duprez D., Kelly R.G. Properties of branchiomeric and somite-derived muscle development in Tbx1 mutant embryos. Dev. Dyn. 2008, 237:3071-3078.
17. Hilton T., Gross M.K., Kioussi C. Pitx2-dependent occupancy by histone deacetylases is associated with T-box gene regulation in mammalian abdominal tissue. J. Biol. Chem. 2010, 285:11129-11142.
18. Hu T., Yamagishi H., Maeda J., McAnally J., Yamagishi C., Srivastava D. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development 2004, 131:5491-5502.
19. Jansen P.L., Klinge U., Jansen M., Junge K. Risk factors for early recurrence after inguinal hernia repair. BMC Surg. 2009, 9:18.
20. Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 2001, 27:286-291.
21. Junge K., et al. Risk factors related to recurrence in inguinal hernia repair: a retrospective analysis. Hernia 2006, 10:309-315.
22. Lau H., Fang C., Yuen W.K., Patil N.G. Risk factors for inguinal hernia in adult males: a case-control study. Surgery 2007, 141:262-266.
23. Liem M.S., van der Graaf Y., Beemer F.A., van Vroonhoven T.J. Increased risk for inguinal hernia in patients with Ehlers-Danlos syndrome. Surgery 1997, 122:114-115.
24. Lindsay E.A., et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410:97-101.
25. Loeys B.L., et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 2005, 37:275-281.
26. Loeys B.L., et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N. Engl. J. Med. 2006, 355:788-798.
27. Lowery M.C., et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am. J. Hum. Genet. 1995, 57:49-53.
28. Merscher S., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001, 104:619-629.
29. Naiche L.A., Harrelson Z., Kelly R.G. T-box genes in vertebrate development. Annu. Rev. Genet. 2005, 39:219-239.
30. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic & Molecular Bases of Inherited Disease 2001, 3421-3452. McGraw-Hill, New York, NY. C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.).
31. Oskarsdóttir S., Persson C., Eriksson B.O., Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur. J. Pediatr. 2005, 164:146-153.
32. Papangeli I., Scambler P.J. Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling. Circ. Res. 2013, 112:90-102.
33. Paylor R., et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:7729-7734.
34. Pyeritz R.E., McKusick V.A. The Marfan syndrome: diagnosis and management. N. Engl. J. Med. 1979, 300:772-777.
35. Rauch R., et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J. Med. Genet. 2010, 47:321-331.
36. Sambasivan R., et al. Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev. Cell 2009, 16:810-821.
37. Scambler P.J. 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatr. Cardiol. 2010, 31:378-390.
38. Shih H.P., Gross M.K., Kioussi C. Muscle development: forming the head and trunk muscles. Acta Histochem. 2008, 110:97-108.
39. Shprintzen R.J., Goldberg R.B., Young D., Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981, 67:167-172.
40. Stoller J.Z., et al. Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp. Biol. Med. (Maywood) 2010, 235:569-576.
41. Viner R.M., Teoh Y., Williams D.M., Patterson M.N., Hughes I.A. Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK. Arch. Dis. Child. 1997, 77:305-309.
42. Xu H., Morishima M., Wylie J.N. Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development 2004, 131:3217-3227.
43. Yagi H., et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003, 362:1366-1373.
44. Yamagishi H., et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 2003, 17:269-281.
45. Yee K.K., Yagi H., Matsuoka R., Nakanishi T., Furukawa T. Transrepression activity of T-box1 in a gene regulation network in mouse cells. Gene 2012, 510:162-170.
46. Yu L., et al. De novo copy number variants are associated with congenital diaphragmatic hernia. J. Med. Genet. 2012, 49:650-659.
47. Zweier C., Sticht H., Aydin-Yaylagül I., Campbell C.E., Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am. J. Hum. Genet. 2007, 80:510-517.