A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 8, 2004, Pages 2716-2721

  Smaoui, Nizar ^a,b   Beltaief, Omar ^b   BenHamed, Sonia ^a   M'Rad, Ridha ^b   Maazoul, Faouzi ^b   Ouertani, Amel ^b   Chaabouni, Habiba ^b   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b CHARLES NICOLLE HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 16Q; CONGENITAL CATARACT; CONSANGUINITY; CONTROLLED STUDY; DNA FLANKING REGION; EXON; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HAPLOTYPE; HOMOZYGOSITY; HSF4 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TUNISIA;

CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HEAT-SHOCK PROTEINS; HUMANS; INTRONS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; TRANSCRIPTION FACTORS; TUNISIA;

EID: 3242880191     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.03-1370     Document Type: Article

References (24)

1. Hejtmancik JF, Smaoui N. Molecular genetics of cataract. Developments in Ophthalmology. Basel, Switzerland: S. Karger; 2003:67-82.
2. Robinson GC, Jan JE, Kinnis C. Congenital ocular blindness in children, 1945 to 1984. Am J Dis Child. 1987;141:1321-1324.
3. Hess JF, Casselman JT, FitzGerald PG. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. J Biol Chem. 1996;271:6729-6735.
4. Jamieson RV, Perveen R, Kerr B, et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2002;11:33-42.
5. Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GC. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Ophthalmol. 2003;87:411-412.
6. Pras E, Frydman M, Levy-Nissenbaum E, et al. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci. 2000;41:3511-3515.
7. Pras E, Levy-Nissenbaum E, Bakhan T, et al. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet. 2002;70:1363-1367.
8. Heon E, Paterson AD, Fraser M, et al. A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22. Am J Hum Genet. 2001;68:772-777.
9. Pras E, Pras E, Bakhan T, et al. A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. Isr Med Assoc J. 2001;3:559-562.
10. Eiberg H, Marner E, Rosenberg T, Mohr J. Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet. 1988;34:272-275.
11. Marner E, Rosenberg T, Eiberg H. Autosomal dominant congenital cataract: morphology and genetic mapping. Acta Ophthalmol. 1989;67:151-158.
12. Bu L, Jin YP, Shi YF, et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet. 2002;31:276-278.
13. Sorger PK, Nelson HC. Trimerization of a yeast transcriptional activator via a coiled-coil motif. Cell. 1989;59:807-813.
14. Pirkkala L, Nykanen P, Sistonen L. Roles of the heat shock transcription factors in regulation of the heat shock response and beyond. FASEB J. 2001;15:1118-1131.
15. Frejtag W, Zhang Y, Dai R, Anderson MG, Mivechi NF. Heat shock factor-4 (HSF-4a) represses basal transcription through interaction with TFIIF. J Biol Chem. 2001;276:14685-14694.
16. Nakai A, Tanabe M, Kawazoe Y, Inazawa J, Morimoto RI, Nagata K. HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator. Mol Cell Biol. 1997;17:469-481.
17. Tanabe M, Sasai N, Nagata K, et al. The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing. J Biol Chem. 1999;274:27845-27856.
18. Smith RJH, Holcomb JD, Daiger SP, et al. Exclusion of Usher syndrome gene from much of chromosome 4. Cytogenet Cell Genet. 1989;50:102-106.
19. Jiao X, Munier FL, Iwata F, et al. Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000;67:1309-1313.
20. Cottingham RW, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252-263.
21. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
22. Rogan PK, Faux BM, Schneider TD. Information analysis of human splice site mutations. Hum Mutat. 1998;12:153-171.
23. Fiorenza MT, Farkas T, Dissing M, Kolding D, Zimarino V. Complex expression of murine heat shock transcription factors. Nucleic Acids Res. 1995;23:467-474.
24. Goodson ML, Park-Sarge OK, Sarge KD. Tissue-dependent expression of heat shock factor 2 isoforms with distinct transcriptional activities. Mol Cell Biol. 1995;15:5288-5293.