Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFβ2 in the pathogenesis of Peters' anomaly

Genomics

Volumn 81, Issue 5, 2003, Pages 489-503

  David, Dezsö ^a   Cardoso, Joana ^a   Marques, Bárbara ^a   Marques, Ramira ^a   Silva, Eduardo D ^b   Santos, Heloisa ^c   Boavida, Maria G ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF COIMBRA   (Portugal)

^c HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

Chromosome 1q41; Chromosome 7p21; Disease associated translocation; HDAC9; Peters' anomaly; TGF 2

Indexed keywords

HISTONE DEACETYLASE; HISTONE DEACETYLASE 9; LYSOPHOSPHOLIPASE LIKE PROTEIN 1; PROTEIN; PROTEIN SUBUNIT; TRANSFORMING GROWTH FACTOR BETA2; UNCLASSIFIED DRUG;

ADULT; ANIMAL MODEL; ARTICLE; CATARACT; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 7; CLINICAL ARTICLE; CONTROLLED STUDY; DEACETYLATION; FAMILIAL DISEASE; FEMALE; GENE DISRUPTION; HUMAN; MALE; MOLECULAR GENETICS; MOUSE; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; PATHOGENESIS; PETERS ANOMALY; PRIORITY JOURNAL; PROMOTER REGION;

ANIMALIA;

EID: 0037404122     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0888-7543(03)00046-6     Document Type: Article

References (49)

1. Holmström G.E., Reardon W.P., Baraitser M., Elston J.S., Taylor D.S. Heterogeneity in dominant anterior segment malformations. Br. J. Opthalmol. 75:1991;591-597.
2. Churchill A., Booth A. Genetics of aniridia and anterior segment dysgenesis. Br. J. Ophthalmol. 80:1996;669-673.
3. Jamiseon R.V., et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis, and coloboma. Hum. Mol. Genet. 11:2002;33-42.
4. Hanson L.M., et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat. Genet. 6:1994;168-173.
5. Doward W., et al. A mutation in the RIEG1 gene associated with Peters' anomaly. Med. Genet. 36:1999;152-155.
6. Semina E.V., et al. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat. Genet. 19:1998;167-170.
7. Nishimura D.Y., et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am. J. Hum. Genet. 68:2001;364-372.
8. Semina E.V., Brownell I., Mintz-Hittner H.A., Murray J.C., Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum. Mol. Genet. 10:2001;231-236.
9. Azuma N., Hirakiyama A., Inoue T., Asaka A., Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum. Mol. Genet. 9:2000;363-366.
10. Okajima K., et al. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am. J. Med. Genet. 85:1999;160-170.
11. Vincent A.L., et al. Phenotypic heterogeneity of CYP1B1 mutations in a patient with Peters' anomaly . J. Med. Genet. 38:2001;324-326.
12. Izquierdo N.J., Maumenee I.H., Traboulsi E.I. Anterior segment malformations in 18q-(de Grouchy) syndrome. Ophthalmic Paediatr. Genet. 14:1993;91-94.
13. Mayer U.M., Bialasiewicz A.A. Ocular findings in a 4p-deletion syndrome (Wolf-Hirschhorn). Ophthalmic Paediatr. Genet. 10:1989;69-72.
14. Bateman J.B., Maumenee I.H., Sparkes R.S. Perters' anomaly associated with partial deletion of the long arm of chromosome 11. Am. J. Ophthalmol. 97:1984;11-15.
15. Frydman M., Steinberger J., Shabtai F., Katznelson M.B., Varsano I. Interstitial deletion of 2q14q21. Am. J. Med. Genet. 34:1989;476-479.
16. Cibis G.W., Waeltermann J., Harris D.J. Peters' anomaly in association with ring 21 chromosomal abnormality. Am. J. Ophthalmol. 100:1985;733-734.
17. Dichtl A., Jonas J.B., Naumann G.O. Atypical Peters' anomaly associated with partial trisomy 5p. Am. J. Ophthalmol. 120:1995;541-542.
18. Wang A.H., et al. HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor. Mol. Cell Biol. 19:1999;7816-7827.
19. Mahlknecht U., et al. Chromosomal organization and localization of the human histone deacetylase 5 gene (HDAC5). Biochim. Biophys. Acta. 1493:2000;342-348.
20. Sparrow D.B., et al. MEF-2 function is modified by a novel co-repressor. MITR, EMBO J. 18:1999;5085-5098.
21. Zhou X., Richon V.M., Rifkind R.A., Marks P.A. Identification of a transcriptional repressor related to the noncatalytic domain of histone deacetylases 4 and 5. Proc. Natl. Acad. Sci. USA. 97:2000;1056-1061.
22. Zhou X., Marks P.A., Rifkind R.A., Richon V.M. Cloning and characterization of a histone deacetylase, HDAC9. Proc. Natl. Acad. Sci. USA. 98:2001;10572-10577.
23. Mahlknecht U., Schnittger S., Will J., Cicek N., Hoelzer D. Chromosomal organization and localization of the human histone deacetylase 9 gene (HDAC9). Biochem. Biophys. Res. Commun. 293:2002;182-191. doi:10.1006/bbrc.2002.0193.
24. Wang A., Denis E.A. Mammalian lysophospholipases. Biochim. Biophys. Acta. 1439:1999;1-16.
25. Carmen A.A., Rundlett S.E., Grunstein M. HDA1 and HDA3 are components of a yeast histone deacetylase (HDA) complex. J. Biol. Chem. 271:1996;15837-15844.
26. Fischle W., et al. A new family of human histone deacetylases related to Saccharomyces cerevisiae HDA1p. J. Biol. Chem. 274:1999;11713-11720.
27. Fischle W., Kiermer V., Dequiedt F., Verdin E. The emerging role of class II histone deacetylases. Biochem. Cell Biol. 79:2001;337-348.
28. Zhang C.L., McKinsey T.A., Olson E.N. The transcriptional corepressor MITR is a signal-responsive inhibitor of myogenesis. Proc. Natl. Acad. Sci. USA. 98:2001;7354-7359.
29. Kao H.-Y., Downes M., Ordentlich P., Evans R.M. Isolation of a novel histone deacetylase reveals that class I and class II deacetylases promote SMRT-mediated repression. Genes Dev. 14:2000;55-66.
30. Ng H.H., Bird A. Histone deacetylases silencers for hire . Trends Biochem. Sci. 25:2000;121-126.
31. Rundlett S.E., Carmen A.A., Suka N., Turner B.M., Grunstein M. Transcriptional repression by UME6 involves deacetylation of lysine 5 of histone H4 by RPD3. Nature. 392:1998;831-835.
32. Van Lint C., Emiliani S., Verdin E. The expression of a small fraction of cellular genes is changed in response to histone hyperacetylation. Gene Expr. 5:1996;245-253.
33. Chai Y., et al. Inhibition of transforming growth factor-β type II receptor signalling accelerates tooth formation in mouse first branchial arch explants. Mech. Dev. 86:1999;63-74.
34. Pelton R.W., Saxena B., Jones M., Moses H.L., Gold L.I. Immunohistochemical localisation of TGFβ1, TGFβ2, and TGFβ3 in the mouse embryo expression patterns suggest multiple roles during embryonic development . J. Cell Biol. 115:1991;1091-1105.
35. Delannet M., Duband J.L. Transforming growth factor-β control of cell-substratum adhesion during avian neural crest cell emigration in vitro. Development. 116:1992;275-287.
36. Sanford L.P., et al. TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes. Development. 124:1997;2659-2670.
37. Saika S., et al. TGFβ2 in corneal morphogenesis during mouse embryonic development. Dev. Biol. 240:2001;419-431. doi:10.1006/dbio.2001.0480.
38. Lovicu F.J., et al. TGFβ induces morphological and molecular changes similar to human anterior subcapsular cataract. Br. J. Ophthalmol. 86:2002;220-226.
39. Kleinjan D.-J., van Heyningen V. Position effect in human genetic disease. Hum. Mol. Genet. 7:1998;1611-1618.
40. Gripp K.W., et al. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat. Genet. 25:2000;205-208.
41. Johnson D., et al. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am. J. Hum. Genet. 63:1998;1282-1293.
42. Vincent A.L., et al. Digenic inheritance of early-onset glaucoma CYPIB1, a potential modifier gene . Am. J. Hum. Genet. 70:2002;460-488.
43. Nomura M., Li E. Smad2 role in mesoderm formation, left-right pattering and craniofacial development. Nature. 393:1989;786-790.
44. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet. 73:1986;320-326.
45. Silverman G.A. Purification of YAC-containing total yeast DNA. Markie D. Methods in Molecular Biology 54 YAC Protocols . 1996;65-68 Humana Press Inc, Totowa, NJ.
46. Willis T.G., et al. Rapid molecular cloning of rearrangements of the IGHJ locus using long distance inverse polymerase chain reaction. Blood. 90:1997;2456-2464.
47. David D., et al. Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B. Hum. Mut. 2:1993;355-361.
48. Telenius H., et al. Degenerate oligonucleotide-primed PCR general amplification of target DNA by a single degenerate primer . Genomics. 13:1992;718-725.
49. Tagle D.A., Collins F.S. An optimized Alu-PCR primer pair for human-specific amplification of YAC and somatic cell hybrids. Hum. Mol. Genet. 1:1992;121-122.