Sara J. Bowne, PhD, Faculty Associate

Research Interests:

Dr. Bowne is a Faculty Associate 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:

• Faculty Associate, Human Genetics Center, School of Public Health, UTHealth

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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
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]
22. 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]
23. 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]
24. 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., 2009. [PubMed]
25. JS Friedman, JW Ray, N Waseem, K Johnson, MJ Brooks, T Hugosson, D Breuer, KE Branham, DS Krauth, SJ Bowne, LS Sullivan, V Ponjavic, L Gänse, R Khanna, EH Trager, LM Gieser, D Hughbanks-Wheaton, RI Cojocaru, NM Ghiasvand, CF Chakarova, M Abrahamson, HHH Göring, AR Webster, DG Birch, GR Abecasis, Y Fann, SS Bhattacharya, SP Daiger, JR Heckenlively, S Andréasson and A Swaroop. Mutations in a novel BTB-Kelch protein, KLHL7, cause autosomal dominant retinitis pigmentosa. Amer. J. Hum. Genet., 84:792-800, 2009. [PubMed]
26. 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]
27. C Zhao, DL Bellur, S Lu, F Zhao, MA Grassi, SJ Bowne, LS Sullivan, SP Daiger, LJ Chen, CP Pang, K Zhao, JP Staley, C Larsson. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am. J. Hum. Genet., 85:617-627, 2009. [PubMed]
28. SP Daiger, LS Sullivan, SJ Bowne, DG Birch DG, JR Heckenlively, EA Pierce, GM Weinstock. Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv. Exp. Med. Biol., 664:325-331, 2010. [PubMed]
29. CJ Spellicy, D Xu, G Cobb, L Hedstrom, SJ Bowne, LS Sullivan, SP Daiger. Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. Adv. Exp. Med. Biol., 664:541-548, 2010. [PubMed]
30. SA Riazuddin, M Iqbal, Y Wang, T Masuda, Y Chen, SJ Bowne, LS Sullivan, NH Waseem, S Bhattacharya, SP Daiger, K Zhang, SN Khan, S Riazuddin, JF Hejtmancik, PA Sieving, DJ Zack, N Katsanis. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am. J. Hum. Genet., 86:805-812, 2010. [PubMed]
31. L Köhn, Kohl, SJ Bowne, LS Sullivan, Kellner, SP Daiger, O Sandgren, I Golovleva. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Ophthalmic Genetics, 2010. [PubMed]
32. SJ Bowne, LS Sullivan, DC Koboldt, L Ding, R Fulton, RM Abbott, EJ Sodergren, DG Birch, DH Wheaton, JR Heckenlively, Q Liu, EA Pierce, GM Weinstock, SP Daiger. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest. Ophthalmol. Vis. Sci., 52:494-503, 2011. [PubMed]
33. SJ Bowne, MM Humphries, LS Sullivan, PF Kenna, LCS Tam, AS Kiang, M Campbell, GM Weinstock, DC Koboldt, L Ding, R Fulton, EJ Sodergren, D Alman, SH Blanton, S Slifer, I Konidari, GJ Farrar, SP Daiger, P Humphries. A dominant-acting mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Euro. J. Hum. Genet., 10:1-8, 2011. [PubMed]
34. AT Fahim, SJ Bowne, LS Sullivan, K Clark, JT Williams, DK Wheaton, DG Birch, SP Daiger. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to mutations in RPGR. PLoS One, 6:e23021, 2011. [PubMed]
35. Y Wen, KG Locke, M Klein, SJ Bowne, LS Sullivan, JW Ray, SP Daiger, DG Birch, DK Hughbanks-Wheaton. Phenotypic characterization of three families with autosomal dominant retinitis pigmentosa (adRP) due to mutations in KLHL7 Arch. Ophthalmol., 129:1475-1482, 2011. [PubMed]
36. AT Fahim, SJ Bowne, LS Sullivan, KD Webb, JT Williams, DK Wheaton, DG Birch, SP Daiger. Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Adv. Exp. Med. Biol., 723:313-320, 2012. [PubMed]
37. JD Churchill, SJ Bowne, LS Sullivan, RA Lewis, DK Wheaton, DG Birch, KE Branham, JR Heckenlively, SP Daiger. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 54:1411-1416, 2013. [PubMed]
38. SJ Bowne, LS Sullivan, CE Avery, EM Sasser, A Roorda, JL Duncan, DH Wheaton, DG Birch, KE Branham, JR Heckenlively, PA Sieving, SP Daiger. Mutations in the SNRNP200 gene cause 1.6% of autosomal dominant retinitis pigmentosa. 19:2407-2417, 2013. [PubMed]
39. LS Sullivan, SJ Bowne, MJ Reeves, D Blain, K Goetz, V NDifor, S Vitez, X Wang, SJ Tumminia, SP Daiger. Prevalence of mutations in eyeGENE® probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 19:6255-6261, 2013. [PubMed]
40. F Wang, H Wang, H-F Tuan, DH Nguyen, V Sun, V Keser, SJ Bowne, LS Sullivan, H Luo, L Zhao, X Wang, JE Zaneveld, JS Salvo, S Siddiqui, L Mao, DK Wheaton, DG Birch, KE Branham, JR Heckenlively, C Wen, K Flagg, H Ferreyra, A Khan, H Ren, K Wang, I Lopez, R Qamar, JC Zenteno, R Ayala-Ramirez, B Buentello-Volante, Q Fu, DA Simpson, Y Li, R Sui, G Silvestri, SP Daiger, RK Koenekoop, K Zhang, R Chen. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum. Genet., 133:331-345, 2013. [PubMed]
41. DC Koboldt, DE Larson, LS Sullivan, SJ Bowne, KM Steinberg, JD Churchill, AC Buhr, N Nutter, EA Pierce, SH Blanton, GM Weinstock, RK Wilson, SP Daiger. Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am. J. Hum. Genet., 94:373-384, 2014. [PubMed]
42. LS Sullivan, DC Koboldt, SJ Bowne, S Lang, SH Blanton, EL Cadena, CE Avery, RA Lewis, K Webb-Jones, DH Wheaton, DG Birch, R Coussa, H Ren, I Lopez, C Chakarova, RK Koenekoop, CA Garcia, RS Fulton, RK Wilson, GM Weinstock and SP Daiger. A dominant mutation in hexokinase 1 (HK1) causes retinitis 2 pigmentosa. Invest. Ophthalmol. Vis. Sci., 55:7147-7158, 2014. [PubMed]
43. SP Daiger, SJ Bowne and LS Sullivan. Genes and mutations causing autosomal dominant retinitis pigmentosa. Cold Spring Harb. Perspect. Med., 5:a017129, 2015. [PubMed]
44. SP Shankar, DG Birch, RS Ruiz, DK Hughbanks-Wheaton, LS Sullivan, SJ Bowne, EM Stone, SP Daiger. Founder effect of a PRPH2 c.828+3A>T splice-site mutation causing autosomal dominant retinal dystrophies. JAMA Ophthalmol., 133:511-517, 2015. [PubMed]
45. SP Shankar, DK Hughbanks-Wheaton, DG Birch, LS Sullivan, KN Conneely, SJ Bowne, EM Stone, SP Daiger. Autosomal dominant retinal dystrophies caused by a founder splice site mutation, c.828+3A>T, in PRPH2 and protein haplotypes in trans as modifiers. Invest. Ophthalmol. Vis. Sci., 57:349-359, 2016. [PubMed]
46. SP Strom, MJ Clark, A Martinez, S Garcia, A Matynia, S Parikh, LS Sullivan, SJ Bowne, SP Daiger, MB Gorin. De novo occurrence of a variant in ARL3 and apparent autosomal dominant transmission of retinitis pigmentosa. PLoS One, 11:e0150944, 2016. [PubMed]
47. SJ Bowne, LS Sullivan, DK Wheaton, KG Locke, KD Jones, DC Koboldt, RS Fulton, RK Wilson, SH Blanton, DG Birch, SP Daiger. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. Mol. Vis. 22:1239-1247, 2016. [PubMed]
48. LS Sullivan, SJ Bowne, DC Koboldt, EL Cadena, JR Heckenlively, KE Branham, DH Wheaton, KD Jones, RS Ruiz, ME Pennesi, P Yang, D Davis-Boozer, H Northrup, VV Gurevich, R Chen, M Xu, Y Li, DG Birch, SP Daiger. A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States. Invest. Ophthalmol. Vis. Sci., 58:2774-2784, 2017. [PubMed]
49. KD Jones, DK Wheaton, SJ Bowne,LS Sullivan, DG Birch, R Chen, SP Daiger. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol. Vis. 23:470-481, 2017. [PubMed]
50. SA Vishnivetskiy, LS Sullivan, SJ Bowne, SP Daiger, EV Gurevich, VW Gurevich. Molecular defects of the disease-causing human arrestin-1 C147F mutant. Invest. Ophthalmol. Vis. Sci. 59:13-20, 2018. [PubMed]
51. SP Daiger, SJ Bowne, LS Sullivan, K Branham, DK Wheaton, KD Jones, CE Avery, ED Cadena, JR Heckenlively, DG Birch DG. Molecular findings in families with an initial diagnose of autosomal dominant retinitis pigmentosa (adRP). Adv. Exp. Med. Biol. 1074:237-245, 2018. [PubMed]
52. K Kiser, KD Webb-Jones, SJ Bowne, LS Sullivan, SP Daiger, DG Birch. Time course of disease progression of PRPF31-mediated retinitis pigmentosa. Am. J. Ophthalmol. 2018. [PubMed]
53. SP Daiger, LS Sullivan, SJ Bowne , ED Cadena, D Koboldt, KM Bujakowska, EA Pierce. Detection of large structural variants causing inherited retinal diseases. Adv. Exp. Med. Biol. 1185:197-202, 2019. [PubMed]
54. AT Fahim, LS Sullivan, SJ Bowne, K Jones, DKH Wheaton, N Khan, JR Heckenlively, KT Jayasundera, K Branham, C Andrews, M Othmann, AJ Karoukis, D Birch, SP Daiger. X-chromosome inactivation is a biomarker of clinical severity in female carriers of X-Linked retinitis pigmentosa. Ophthalmol. Retina, 4:510-520, 2019. [PubMed]
55. B Cogné, X Latypova, L Martin, S Senaratne, G Kellaris, G Le Meur, D Caldari, D Debray, E Frengen, S Bowne, E Cadena, SP Daiger, K Bujakowska, EA Pierce, MB Gorin, L Legeai-Mallert, N Katsanis, S Bézieua, LS Sullivan. EE Davis, B Isidor. Mutations in kinesin-2 motor KIF3B cause an autosomal dominant ciliopathy. Amer. J. Hum. Genet., 106:893-904, 2020. [PubMed]