Sara J. Bowne, PhD, Faculty Associate

Research Interests:

Dr. Bowne is a Research Scientist in the Laboratory for Molecular Diagnosis of Inherited Eye Diseases. Her research focuses on the genes and mutations causing inherited retinal diseases such as retinitis pigmentosa and macular degeneration. Her current research projects include i) mutation studies of genes causing retinitis pigmentosa, ii) characterization of the RP10 (IMPDH1) gene and gene product and iii) investigaton of consequences and possible therapies for retinitis pigmentosa caused by mutations in IMPDH1.

Professional Appointments:

• Research Scientist, Human Genetics Center, School of Public Health, UT-Houston

Education:

• BS, State University of New York College at Fredonia, 1993; major: Recombinant Gene Technology
• MS, Graduate School of Biomedical Sciences, The Univ. of Texas HSC, Houston, 1998; major: Human Genetics
• PhD, Graduate School of Biomedical Sciences, The Univ. of Texas HSC, Houston, 2001; major: Human Genetics

Recent Representative Publications:

1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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 Donavan, LS Sullivan. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol. Vis., 9:129-137, 2003. [PubMed]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. SP Daiger, SJ Bowne, LS Sullivan. Perspective on genes and mutations causing retinitis pigmentosa. Arch. Ophthalmol. 125:151-158, 2007. [PubMed]
18. 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]
19. 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]
20. 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]
21. 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]