Stephen P. Daiger, PhD, Professor

Research Interests:

Dr. Daiger is Director of the Laboratory for Molecular Diagnosis of Inherited Eye Diseases. His research focuses on genes and mutations causing inherited retinal diseases such as retinitis pigmentosa, Leber congenital amaurosis and macular degeneration. Ongoing projects include i) mutation studies of genes causing autosomal dominant retinitis pigmentosa, ii) linkage mapping in families with autosomal dominant retinal diseases, and iii) characterization of genes and proteins identified in earlier research, specifically IMPDH1 (also known as RP10) and RP1. Dr. Daiger has also given testimony in criminal cases as an expert witness on DNA fingerprinting.

Professional Appointments and Activities:

• Professor, Human Genetics Center, School of Public Health, UT-Houston
• Professor, Department Of Ophthalmology and Visual Science, UT-Houston
• Adjunct Professor, Pediatrics Department, Baylor College of Medicine
• Vice Chair, Scientific Advisory Board and Chair, Genetics Committee, Foundation Fighting Blindness

Education:

• AB, Johns Hopkins University, Experimental Psychology, 1965
• PhD, Stanford University, Human Population Genetics, 1975
• Postdoctoral Fellow, University of Washington, Seattle, Medical Genetics, 1976-1978

Research support:

• National Eye Institute, National Institutes of Health
• The Foundation Fighting Blindness
• The Hermann Eye Fund
• The William Stamps Farish Fund, The George Gund Foundation, and Alfred W. Lasher III

Recent and Representative Publications:

1. SH Blanton, JR Heckenlively, AW Cottingham, J Friedman, LA Sadler, M Wagner, LH Friedman, SP Daiger. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 11:857-873, 1991. [PubMed]
2. JR Heckenlively, JA Rodriguez, SP Daiger. Autosomal dominant sectoral retinitis pigmentosa: two families with rhodopsin codon 23 transversion. Arch. Ophthal., 109:84-91, 1991. [PubMed]
3. J Tomfohrde, S Wood, J Schertzer, MJ Wagner, DE Wells, J Parrish, LA Sadler, SH Blanton, SP Daiger, Z Wang, PJ Wilkie, JL Weber. Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors. Genomics 14:144-152, 1992. [PubMed]
4. RJH Smith, EC Lee, WJ Kimberling, SP Daiger, MZ Pelias, BJB Keats, M Jay, A Bird, W Reardon, M Guest, R Ayyagari, JF Hejtmancik. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:995-1002, 1992. [PubMed]
5. T Steinbrueck, C Read, SP Daiger, LA Sadler, JL Weber, S Wood, H Donis-Keller. Chromosome 8. Science 258:71-ff, 1992.
6. R Chakraborty, MR Srinivasan, SP Daiger. Evaluation of standard error and confidence interval of estimated multilocus genotype probabilities, and their implications in DNA forensics. Am. J. Hum. Genet., 52:60-70, 1993. [PubMed]
7. JA Rodriguez, CA Herrera, DG Birch, SP Daiger. A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa. Hum. Mutation 2:205-213, 1993. [PubMed]
8. RE McGuire, AM Gannon, LA Sadler-Sullivan, JA Rodriguez, SP Daiger. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Hum. Genet. 95:71-74, 1995. [PubMed]
9. SP Daiger, LS Sullivan, JA Rodriguez. Correlation of phenotype with genotype in inherited retinal degeneration. Behavioral Brain Sci.18:491-506, 1995.
10. RE McGuire, LS Sullivan, SH Blanton, ME Church, JR Heckenlively, SP Daiger. X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am. J. Hum. Genet. 57:87-94, 1995. [PubMed]
11. LS Sullivan, SP Daiger. Inherited degeneration of the retina: exceptional genetic and clinical heterogeneity. Molecular Med. Today, 2:380-386, 1996. [PubMed]
12. RE McGuire, SA Jordan, VV Braden, GG Bouffard, P Humphries, ED Green, SP Daiger. Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Genome Res. 6:255-266, 1996. [PubMed]
13. MM Sohocki, LS Sullivan, WR Harrison, EJ Sodergren, FFB Elder, G Weinstock, S Tanase, SP Daiger. Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequence, and polymorphic sites. Genomics, 40:247-252, 1997. [PubMed]
14. RE McGuire, SP Daiger, ED Green. Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) gene. Genomics, 41:481-484, 1997. [PubMed]
15. MM Sohocki, LS Sullivan, H Mintz-Hittner, K Small, RE Ferrell, SP Daiger. Exclusion of atypical vitelliform macular dystrophy (VMD1) from 8q24.3 and from other known macular degenerative loci. Am. J. Hum. Genet, 61:239-241, 1997. [PubMed]
16. RW Yee, LS Sullivan, HT Lai, EL Stock, Y Lu, MN Kahn, SP Daiger. Linkage mapping of Thiel-Behnke corneal dystrophy (CDTB) to chromosome 10q23-q24. Genomics, 46:152-154, 1997. [PubMed]
17. MM Sohocki, LS Sullivan, HA Mintz-Hittner, D Birch, JR Heckenlively, CA Freund, RR McInnes, SP Daiger. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription factor gene. Am. J. Hum. Genet, 63:1307-1315, 1998. [PubMed]
18. MM Sohocki, KA Malone, LS Sullivan, SP Daiger. Localization of retina/pineal-specific expressed sequences (ESTs): identification of novel candidate genes for inherited retinal disorders. Genomics, 57:1-7, 1999. [PubMed]
19. LS Sullivan, JR Heckenlively, SJ Bowne, J Zuo, WA Hide, A Gal, M Denton, CF Inglehearn, SH Blanton, SP Daiger. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat. Genet., 22:248-251, 1999. [PubMed]
20. SJ Bowne, SP Daiger, MM Hims, MS Sohocki, KA Malone, AB McKie, JR Heckenlively, DG Birch, CF Inglehearn, SS Bhattacharya, A Bird, LS Sullivan. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11:2121-2128, 1999. [PubMed]
21. SJ Bowne, LS Sullivan, L Ding, E Traer, SM Prescott, DG Birch, A Kennan, P Humphries, SP Daiger. Evaluation of human diacylglycerol kinase iota, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q. Mol. Vision, 6:6-9, 2000. [PubMed]
22. MM Sohocki, SJ Bowne, LS Sullivan, S Blackshaw, CL Cepko, AM Payne, SS Bhattacharya, S Khaliq, DG Birch, WR Harrison, FFB Elder, JR Heckenlively, SP Daiger. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat. Genet. 24:79-83, 2000. [PubMed]
23. MM Sohocki, I Perrault, B Leroy, AM Payne, S Dharmaraj, SS Bhattacharya, J Kaplan, IH Maumenee, R Koenekoop, DG Birch, JR Heckenlively, SP Daiger. Prevalence of AIPL1 mutations in inherited retinal degenerative diseases. Mol. Genet. Metabol., 70:142-150, 2000. [PubMed]
24. AJ Mears, S Hiriyanna, R Vervoort, B Yashar, L Gieser, S Fahrner, SP Daiger, JR Heckenlively, PA Sieving, AF Wright, A Swaroop. Re-mapping the RP15 locus and identification of a de novo insertion in a novel RPGR exon. Am. J. Hum. Genet, 67:1000-1003, 2000. [PubMed]
25. MM Sohocki, SP Daiger, SJ Bowne, JA Rodriquez, H Northrup, JR Heckenlively, DG Birch, H Mintz-Hittner, RS Ruiz, RA Lewis, DA Saperstein, LS Sullivan. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum. Mut, 17:42-51, 2001. [PubMed]
26. MM Sohocki, LS Sullivan, DL Tirpak, SP Daiger. Comparative analysis of aryl-hydrocarbon interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. Mamm. Genome, 12:566-568, 2001. [PubMed]
27. JR Heckenlively, SP Daiger. "Hereditary Retinal and Choroidal Degenerations". Principals and Practices of Medical Genetics, Fourth Edition, Rimoin et al., Eds., Churchill Livingston, 2002.
28. Q Liu, AH Milam, SP Daiger, DB Farber, JR Heckenlively, LS Sullivan, J Zuo, EA Pierce. Localization of the photoreceptor protein RP1 to connecting cilium of human and mouse photoreceptors. Invest. Ophthalmol. Vis. Sci. 43:22-32, 2002. [PubMed]
29. SJ Bowne, LS Sullivan, SH Blanton, CL Cepko, S Blackshaw, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum. Mol. Genet., 11:559-568, 2002. [PubMed]
30. J Gao, K Cheon, S Nusinowitz, Q Liu, D Bei, K Atkins, A Azimi, SP Daiger, DB Farber, JR Heckenlively, EA Pierce, LS Sullivan, J Zuo. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc. Natl. Acad. Sci. USA 99:5698-5703, 2002. [PubMed]
31. DT Akey, X Zhu, M Dyer, A Li, A Sorensen, S Blackshaw, T Fukuda-Kamitani, SP Daiger, CM Craft, T Kamitani, MM Sohocki. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum. Mol. Genet., 11:2723-2733, 2002. [PubMed]
32. SJ Bowne, SP Daiger, KA Malone, JR Heckenlively, A Kennan, P Humphries, D Hughbanks-Wheaton, DG Birch, Q Liu, EA Pierce, J Zuo, Q Huang, D Donovan, LS Sullivan. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1 ) gene. Mol. Vis, 9:129-137, 2003. [PubMed]
33. SC Khani, AJ Karoukis, JE Young, R Ambasudhan, T Burch, R Stockton, RA Lewis, LS Sullivan, SP Daiger, E Reichel, R Ayyagari. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and non-exudative maculopathy associated with mutation in RDS gene. Invest. Ophthalmol. Vis. Sci., 44:3570-3577, 2003. [PubMed]
34. LS Sullivan, X Zhao, SJ Bowne, X Xu, SP Daiger, SB Yee, RW Yee. Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2 on chromosome 10q23-q25. Curr Eye Res. 27:223-226, 2003. [PubMed]
35. A Kennan, A Aherne, SJ Bowne, SP Daiger, GJ Farrar, PF Kenna, P Humphries. On the role of IMPDH1 in retinal degeneration. Adv. Exp. Med. Biol., 533:13-18, 2003. [PubMed]
36. SP Daiger, LS Sullivan, SJ Bowne, A Kennan, P Humphries, DG Birch, JR Heckenlively, RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. Adv. Exp. Med. Biol., 533:1-11, 2003. [PubMed]
37. DT Akey, X Zhu, M Dyer, A Li, A Sorensen, T Fukada-Kamitani, SP Daiger, C Craft, T Kamitani, MM Sohocki. Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors. Adv. Exp. Med. Biol. 33:287-295, 2003. [PubMed]
38. SP Daiger. Identifying retinal disease genes: how far have we come, how far do we have to go? Novartis Found Symp. 255:17-27, 2004. [PubMed]
39. SP Daiger. Genetics. Was the Human Genome Project worth the effort? Science. 308:362-364, 2005. [PubMed]
40. P Kozma, DK Hughbanks-Wheaton, KG Locke, GE Fish, AI Gire, CJ Spellicy, LS Sullivan, SJ Bowne, SP Daiger, DG Birch DG. Phenotypic characterization of a large family with RP10 autosomal dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. Am. J Ophthalmol., 140:858-867, 2005. [PubMed]
41. SP Daiger, SP Shankar, AB Schindler, LS Sullivan, SJ Bowne, TM King, EW Daw, EM Stone, JR Heckenlively. Genetic factors modifying clinical expression of autosomal dominant RP. Adv. Exp. Med. Biol. 572:3-8, 2006. [PubMed]
42. SJ Bowne, LS Sullivan, SE Mortimer, L Hedstrom, J Zhu, CJ Spellicy, AI Gire, D Hughbanks-Wheaton, DG Birch, RA Lewis, JR Heckenlively, SP Daiger. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci, 47:34-42, 2006. [PubMed]
43. C Bowes Rickman, JN Ebright, ZJ Zavodni, L Yu, T Wang, SP Daiger, G Wistow, K Boon, MA Hauser. Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest. Ophthalmol. Vis. Sci., 47:2305-2316, 2006. [PubMed]
44. LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, RA Lewis, CA Garcia, RS Ruiz, SH Blanton, H Northrup, AI Gire, R Seaman, H Duzkale, CJ Spellicy, J Zhu, SP Shankar, SP Daiger. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa (adRP): a screen of known genes in 200 families. Invest. Ophthalmol. Vis. Sci., 47:3052-3064, 2006. [PubMed]
45. SJ Bowne, Q Liu, LS Sullivan, J Zhu, CJ Spellicy, CB Rickman, EA Pierce, SP Daiger. Why do mutations in the ubiquitously expressed housekeeping gene, IMPDH1, cause retinal-specific photoreceptor degeneration? Invest. Ophthalmol. Vis. Sci., 47:3754-3765, 2006. [PubMed]
46. LS Sullivan, SJ Bowne, CR Seaman, SH Blanton, RA Lewis, JR Heckenlively, DG Birch, D Hughbanks-Wheaton, SP Daiger. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 47:4579-4588, 2006. [PubMed]
47. SP Daiger, SJ Bowne, LS Sullivan. Perspective on genes and mutations causing retinitis pigmentosa. Arch. Ophthalmol. 125:151-158, 2007. [PubMed]
48. LS Sullivan, EB Baylin, R Font, SP Daiger, JS Pepose, TE Clinch, H Nakamura, XC Zhao, RW Yee. A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Mol Vis. 13:975-980, 2007. [PubMed]
49. CJ Spellicy, SP Daiger, LS Sullivan, J Zhu, Q Liu, EA Pierce, SJ Bowne. Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species. Mol. Vis. 13:1866-1872, 2007. [PubMed]
50. AI Gire, LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol. Vis. 13:1970-1975, 2007. [PubMed]
51. SP Shankar, JH Fingert, V Carelli, ML Valentino, TM King, SP Daiger, SR Salomao, A Berezovsky, R Belfort Jr, TA Braun, VC Sheffield, AA Sadun, EM Stone. Evidence for a novel X-linked modifier locus for Leber Hereditary Optic Neuropathy. Ophthalmic Genet. 29:17-24, 2008. [PubMed]
52. D Xu, G Cobb, CJ Spellicy, SJ Bowne, SP Daiger, L Hedstrom. Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins. Arch. Biochem. Biophys. 472:100-104, 2008. [PubMed]
53. SP Daiger, LS Sullivan, AI Gire, DG Birch, JR Heckenlively, SJ Bowne. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv. Exp. Med. Biol. 613:203-209, 2008. [PubMed]
54. SJ Bowne, LS Sullivan, AI Gire, DG Birch, D Hughbanks-Wheaton, JR Heckenlively, SP Daiger. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa (adRP). Mol. Vis., 14:922-927, 2008. [PubMed]
55. SE Mortimer, D Xu, N Hamaguchi, D McGrew, HC Lim, SJ Bowne, SP Daiger, L Hedstrom. The missing link to retinal degeneration: IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin. J. Biol. Chem., 283:36354-36360, 2008. [PubMed]
56. Köhn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O, Golovleva I. Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance. 17:651-655, Eur. J. Hum. Genet., 2008. [PubMed]
57. T Yamashita, J Liu, J Gao, S LeNoue, C Wang, J Kaminoh, SJ Bowne, LS Sullivan, SP Daiger, K Zhang, MEC Fitzgerald, VJ Kefalov, J Zuo. Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci. 29:9748-9760, 2009. [PubMed]

Patent Pending:

• SP Daiger, MM Sohocki. Diagnosis and Treatment of Retinal Diseases Associated with Human AIPL1, January 2001.

Commencement Address:

• SP Daiger. Graduate School of Biomedical Sciences, The University of Texas Health Science Center at Houston, Commencement Address, May 6, 2006. [text]