Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the β-subunit of transducin with digenic disease

Molecular Vision

Volumn 13, Issue , 2007, Pages 287-292

  Gao, Yong Qing ^a   Danciger, Michael ^b   Özgül, Riza Köksal ^a,c   Gribanova, Yekaterina E ^a   Jacobson, Samuel G ^d   Farber, Debora B ^a,e  

^a JULES STEIN EYE INSTITUTE   (United States)

^b LOYOLA MARYMOUNT UNIVERSITY   (United States)

^c HACETTEPE UNIVERSITY   (Turkey)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; CYCLIC GMP PHOSPHODIESTERASE; PERIPHERIN; PHOSPHODIESTERASE 6A; PHOSPHODIESTERASE 6B; PHOSPHODIESTERASE 6G; SERINE; TRANSCRIPTION FACTOR SP4; TRANSDUCIN; UNCLASSIFIED DRUG;

ARTICLE; BETA CHAIN; COHORT ANALYSIS; CONTROLLED STUDY; DNA FLANKING REGION; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HISPANIC; HOMOZYGOTE; HUMAN; HUMAN CELL; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADENINE; ASPARAGINE; BLINDNESS; COHORT STUDIES; EXONS; GTP-BINDING PROTEIN BETA SUBUNITS; GUANINE; HISPANIC AMERICANS; HUMANS; INTRONS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DEGENERATION; SERINE; SP4 TRANSCRIPTION FACTOR; VARIATION (GENETICS);

EID: 33847351732     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997; 91:543-53.
2. Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997; 19:1329-36.
3. Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet 1999; 21:355-6.
4. Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antinolo G, Ayuso C, Carballo M. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat 2001; 17:520.
5. Harrison SM, Houzelstein D, Dunwoodie SL, Beddington RS. Sp5, a new member of the Sp1 family, is dynamically expressed during development and genetically interacts with Brachyury. Dev Biol 2000; 227:358-72.
6. Philipsen S, Suske G. A tale of three fingers: the family of mammalian Sp/XKLF transcription factors. Nucleic Acids Res 1999; 27:2991-3000.
7. Treichel D, Becker MB, Gruss P. The novel transcription factor gene Sp5 exhibits a dynamic and highly restricted expression pattern during mouse embryogenesis. Mech Dev 2001; 101:175-9.
8. Lania L, Majello B, De Luca P. Transcriptional regulation by the Sp family proteins. Int J Biochem Cell Biol 1997; 29:1313-23.
9. Suske G. The Sp-family of transcription factors. Gene 1999; 238:291-300.
10. Hagen G, Muller S, Beato M, Suske G. Cloning by recognition site screening of two novel GT box binding proteins: a family of Sp1 related genes. Nucleic Acids Res 1992; 20:5519-25.
11. Hagen G, Muller S, Beato M, Suske G. Sp1-mediated transcriptional activation is repressed by Sp3. EMBO J 1994; 13:3843-51.
12. Zhou X, Qyang Y, Kelsoe JR, Masliah E, Geyer MA. Impaired postnatal development of hippocampal dentate gyrus in Sp4 null mutant mice. Genes Brain Behav 2006; Epub ahead of print.
13. Lerner LE, Gribanova YE, Ji M, Knox BE, Farber DB. Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements. J Biol Chem 2001; 276:34999-5007.
14. Gollner H, Bouwman P, Mangold M, Karis A, Braun H, Rohner I, Del Rey A, Besedovsky HO, Meinhardt A, van den Broek M, Cutforth T, Grosveld F, Philipsen S, Suske G. Complex phenotype of mice homozygous for a null mutation in the Sp4 transcription factor gene. Genes Cells 2001; 6:689-97.
15. Lerner LE, Gribanova YE, Whitaker L, Knox BE, Farber DB. The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX. J Biol Chem 2002; 277:25877-83.
16. Lerner LE, Peng GH, Gribanova YE, Chen S, Farber DB. Sp4 is expressed in retinal neurons, activates transcription of photoreceptor-specific genes, and synergizes with Crx. J Biol Chem 2005; 280:20642-50.
17. Danciger M, Blaney J, Gao YQ, Zhao DY, Heckenlively JR, Jacobson SG, Farber DB. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 1995; 30:1-7.
18. Gao YQ, Danciger M, Zhao DY, Blaney J, Piriev NI, Shih J, Jacobson SG, Heckenlively JH, Farber DB. Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. Exp Eye Res 1996; 62:149-54.
19. Gao YQ, Danciger M, Akhmedov NB, Zhao DY, Heckenlively JR, Fishman GA, Weleber RG, Jacobson SG, Farber DB. Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. Mol Vis 1998; 4:16.
20. Gao YQ, Danciger M, Longmuir R, Piriev NI, Zhao DY, Heckenlively JR, Fishman GA, Weleber RG, Jacobson SG, Stone EM, Farber DB. Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. Invest Ophthalmol Vis Sci 1999; 40:1818-22.
21. Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Ophthalmology 2005; 112:159-66.
22. Kitamura E, Danciger M, Yamashita C, Rao NP, Nusinowitz S, Chang B, Farber DB. Disruption of the gene encoding the beta1-subunit of transducin in the Rd4/+ mouse. Invest Ophthalmol Vis Sci 2006; 47:1293-301.