Rebecca Bellone

Rebecca Bellone

Position Title
Associate Adjunct Professor

Unit
Department of Population Health and Reproduction, School of Veterinary Medicine
Veterinary Genetics Laboratory


Bio

Profile Introduction

My research interests involve investigating the genetics of traits in the horse that are economically and medically important and/or are useful models for other species, including humans. I am investigating the genetics of several pigmentation phenotypes and associated ocular disorders, among these is the second most common tumor in the horse, ocular squamous cell carcinoma. The primary goal of my research program is to develop tools that will assist animal breeders in making informed mating decisions and work towards better management practices, by understanding the biological mechanisms behind complex heritable traits.

Research Interests

The genetics of ocular squamous cell carcinoma in horses

Squamous cell carcinoma (SCC) is the most common form of cancer of the equine eye and the second most common tumor of the horse overall. The most common ocular locations for SCC are the nictitating membrane and the limbus. Ocular SCC originating at the limbus can spread more deeply and laterally through the membrane and into the corneal region of the eye and can quickly lead to visual impairment and destruction of the eye.  Furthermore, no treatment has a 100% efficacy and reoccurrence rates within a year are high. The etiopathogenesis of ocular SCC is not entirely understood but several factors including ultraviolet radiation, pigmentation surrounding the eye, nutrition, viral agents, hormonal, immunological, and genetics are thought to be involved. Of these, genetics is the least known and is the focus of study in my laboratory. Haflinger horses are among those breeds that are over-represented for both limbal and third eye lid SCC and we recently identified a recessive genetic risk variant in a protein known to repair ultraviolet radiation, namely DDB2. Horses with two copies of this variant are at a five times greater risk of developing ocular squamous cell carcinoma than those with one or no copies.  Currenlty we are working to identify other genetic risk factors in multiple horse breeds.

The genetics of equine recurrent uveitis

Equine Recurrent Uveitis (ERU), also known as moon blindness, is characterized by episodes of inflammation of the middle layer of the eye. . This inflammation results in intraocular changes and can lead to the development of cataracts, glaucoma and eventually complete loss of vision. ERU is the most common cause of blindness in horses. The Appaloosa breed is commonly affected by this ocular condition and the focus of this project is to determine the inherited risk factors in this and other breeds.

The genetics of bilateral corneal stromal loss

Bilateral corneal stromal loss (BCSL), a corneal disorder that affects Friesian horses, is characterized by bilaterally symmetrical regions of corneal stromal loss that are not typically associated with inflammation or trauma. If left untreated, the cornea can perforate and cause permanent damage leaving vision compromised. Bilateral disorders occurring in a single breed are often inherited. Thus, investigating the genetics of this disorder in the horse may inform clinical management and breeding decisions.

Grad Group Affiliations

  • Animal Biology Graduate Group
  • Integrative Genetics and Genomics

Specialties / Focus

  • Animal Genomics
  • Integrated Genetics and Genomics

Courses

  • ANG 105 Horse Genetics, Spring

Honors and Awards

  • 2013-2014 College of Natural and Health Sciences at the University of Tampa Outstanding Scholar Award
  • 2011-2012 College of Natural and Health Sciences at the University of Tampa Outstanding Scholar Award
  • 2010-2011 College of Natural and Health Sciences at the University of Tampa Outstanding Scholar Award
  • 2008-2009 College of Natural and Health Sciences at the University of Tampa Outstanding Supervision of Student Research Award

    Professional Societies

    • International Society of Animal Genetics
    • Equine Science Society

    Degrees

    • 1996 B.S. Agriculture University of Florida
    • 2001 Ph.D. Veterinary Science University of Kentucky

    Publications

    Bellone, R. R., Liu, J., Petersen, J. L., Mack, M., Singer-Berk, M., Drögemüller, C., Malvick, J., Wallner, B., Brem, G., Penedo, M. C. & Lassaline, M. (2017), A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses. International Journal of Cancer, 141 (2), 342–353. doi:10.1002/ijc.30744.

    Mack, M., Kowalski, E., Grahn, R., Bras, D., Penedo, M. C. T., & Bellone, R. (2017). Two Variants inSLC24A5Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses.G3: Genes|Genomes|Genetics,7(8), 2799–2806. doi:10.1534/g3.117.043786

    Scott, E. Y., Mansour, T., Bellone, R. R., Brown, C. T., Mienaltowski, M. J., Penedo, M. C., Ross, P.J., Valberg, S.J., Murray, J.D.., & Finno, C. J. (2017). Identification of long non-coding RNA in the horse transcriptome.BMC Genomics,18, 511. doi:10.1186/s12864-017-3884-2.

    Mansour, T. A., Scott, E. Y., Finno, C. J., Bellone, R. R., Mienaltowski, M. J., Penedo, M. C., Ross, P.J., Valberg, S.J., Murray, J.D., & Brown, C. T. (2017). Tissue resolved, gene structure refined equine transcriptome.BMC Genomics,18, 103. doi:10.1186/s12864-016-3451-2.

    Tuggle, C. K., Giuffra, E., White, S. N., Clarke, L., Zhou, H., Ross, P. J., Acloque, H., Reecy, J. M., Archibald, A., Bellone, R. R., Boichard, M., Chamberlain, A., Cheng, H., Crooijmans, R. P.M.A., Delany, M. E., Finno, C. J., Groenen, M. A. M., Hayes, B., Lunney, J. K., Petersen, J. L., Plastow, G. S., Schmidt, C. J., Song, J., & Watson, M. (2016), GO-FAANG meeting: a Gathering On Functional Annotation of Animal Genomes. Animal Genetics, 47 (5), 528–533. doi:10.1111/age.12466.

    Staiger, E.A., Bellone, R.R., Sutter, N.B., & Brooks, S.A. (2016) Morphological variation in gaited horse breeds. Journal of Equine Veterinary Science, 43, 55-65. doi:10.1016/j.jevs.2016.04.096

    Holl, H. M., Brooks, S. A., Archer, S., Brown, K., Malvick, J., Penedo, M. C. T. and Bellone, R. R. (2016), Variant in theRFWD3gene associated withPATN1, a modifier of leopard complex spotting. Animal Genetics, 47(1), 91–101. doi:10.1111/age.12375.

    Lassaline, M., Cranford, T.L., Latimer, C.A., Bellone, R. (2015) Limbal squamous cell carcinoma in Haflinger horses. Veterinary Ophthalmology doi: 10.1111/vop.12229.http://onlinelibrary.wiley.com/doi/10.1111/vop.12229/full

    Ludwig, A., Reissmann, M., Benecke, N., Bellone, R., Sandoval-Castellanos, E., Cieslak, M., Fortes, G.G., Morales-Muñiz, A., Hofreiter, M., & Pruvost, M. (2014) 25,000 years fluctuating selection on leopard complex spotting and congenital night blindness in horses. PHIL TRANS R SOC B DOI: 10.1098/rstb.2013.0386.

    Fritz, K.L., Kaese, H.J., Valberg, S.J., Hendrickson, J.A., Rendahl, A.K., Bellone, R.R., Dynes, K.M.. Wagner, M.L., Lucio,  M.A.,  Cuomo, F.M., Brinkmeyer-Langford, C.L.,  Skow,  L.C., Mickelson, J.R., Rutherford, M.S., & McCue, M.E. (2013) Genetic risk factors for insidious Equine Recurrent Uveitis in Appaloosa horses. Animal Genetics 45(3):392-399.http://onlinelibrary.wiley.com/doi/10.1111/age.12129/full

    Promerová, M., Andersson, L.S., Juras, R., Penedo, M.C.T., Reissmann, M., Tozaki, T., Bellone, R., Dunner, S., Hořín, P., Imsland, F., Imsland, P., Mikko, S., Modrý, D., Roed, K.H., Schwochow, D., Vega-Pla, J.L., Yeganeh, H.M., Mashouf, N.Y., Cothran, E.G., Lindgren, G., & Andersson, L. (2013) World-wide frequency distribution of the ‘Gait keeper’ mutation in the DMRT3 gene. Animal Genetics 45(2): 274–282.http://onlinelibrary.wiley.com/doi/10.1111/age.12120/full

    Bellone, R.R.,  Holl, H.,  Setaluri, V.,  Devi, S., Maddodi, N., Archer, S., Sandmeyer, L., Ludwig, A., Foerster, D.,  Pruvost, M.,  Reissmann, M., Bortfeldt, R., Adelson, D.L.,  Lim, S.L.,  Nelson, J., Haase, B.,  Engensteiner, M., Leeb, T.,   Forsyth, G.,  Mienaltowski, M.J.,  Mahadevan, P., Hofreiter, M., Paijmans, J. L.A., Gonzalez-Fortes, G.,  Grahn, B., &  Brooks, S.A.  (2013) Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse. PLoS ONE 8(10):e78280 (doi:10.1371/journal.pone.0078280).http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0078280

    Haase, B., Signer-Hasler, H., Binns, M.M., Obexer-Ruff, G., Hauswirth, R., Bellone, R., Burger, D., Rieder, S., Wade, C., & Leeb, T. (2013) Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses. PLoS ONE  8(9):e75071 (doi:10.1371/journal.pone.007507).http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0075071

    Hauswirth, R., Jude, R., Haase, B., Bellone, R.R., Archer, S., Holl, H., Brooks, S.A., Tozaki, T., Penedo, M.C.T., Rieder, S., & Leeb, T. (2013) Novel variants in the KIT and PAX3 gene in horses with white spotted coat colour phenotypes. Animal Genetics. 44(6):763-765. http://onlinelibrary.wiley.com/doi/10.1111/age.12057/full

    Makvandi-Nejad, S., Hoffman, G.E., Allen, J.J., Chu, E., Gu, E., Chandler, A.M., Loredo, A.I., Bellone, R.R., Mezey, J.G., Brooks, S.A., & Sutter, N.B. (2012) Four Loci Explain 83% of Size Variation in the Horse. PLoS One 7(7):e39929. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0039929

    Sandmeyer, L. S., Bellone, R.R., Archer, S., Bauer, B. S., Nelson, J., Forsyth, G. & Grahn, B. H. (2012) Congenital stationary night blindness is associated with the leopard complex in the miniature horse. Veterinary Ophthalmology. 15:18-22.http://onlinelibrary.wiley.com/doi/10.1111/j.1463-5224.2011.00903.x/full

    Pruvost, M., Bellone, R., Beneck, N., Sandoval-Castellanos, E., Cieslak, M.,Kuznetsova, T., Morales-Muñiz, A., O’Connor, T., Reissmann, M., Hofreiter, M., & Ludwig, A. (2011) Genotypes of predomestic horses match phenotypespainted in Paleolithic works of cave art. PNAS 108(46):186260-18630.http://www.pnas.org/content/108/46/18626.long

    Bellone R.R., S. Archer S., Wade, C.M., Cuka-Lawson, C.,  Haase, B.,  Leeb,T.,  Forsyth, G.,  Sandmeyer, L., & Grahn, B. (2010) Association analysis of candidate SNPs in TRPM1 with leopard complex spotting (LP) and congenital stationary night blindness (CSNB) in horses.  Animal Genetics 41(Suppl. 2): 207.http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02119.x/full

    Brooks, S.A., Makvandi-Nejad, S., Chu, E., Allen, J., Streeter, C., Gu, E., McCleery, B., Murphy, B.A., Bellone, R., & Sutter, N.B. (2010) Morphological Variation in the Horse: Defining Complex Traits of Body Size and Shape. Animal Genetics 41(Suppl. 2):159-165.http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02127.x/full

    Bellone, R.R.  (2010) Pleiotropic effects of pigmentation genes in horses. Animal Genetics 41(Suppl. 2):100–110. http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2052.2010.02116.x/full

    Bellone, R., Forsyth, G., Leeb, T., Archer, S., Sigurdsson, S., Mauceli, E., Engensteiner, M., Bailey, E., Sandmeyer, L., Grahn, B.,  Lindblad-Toh, K., & Wade, C. (2010) Fine-mapping and Mutation Analysis of TRPM1 a Candidate Gene for Leopard Complex (LP) Spotting and Congenital Stationary Night Blindness (CSNB) in Horses. Briefings in Functional Genomics 9(3):193-207.http://bfg.oxfordjournals.org/content/9/3/193.full.pdf+html

    Wade, C.M., Giulotto, E., Sigurdsson, S., Zoli, M., Gnerre, S., Imsland, F., Lear, T.L., Adelson, D.L., Bailey, E., Bellone, R.R., Blöcker, H., Distl, O., Edgar, R.C., Garber, M., Leeb, T., Mauceli, E., MacLeod, J.N., Penedo, M.C.T., Raison,  J.M., Sharpe, T., Vogel, J., Andersson, L., Antczak,  D.F., Biagi, T., Binns,  M.M., Chowdhary, B.P., Coleman, S.J., Della Valle, G., Fryc,  S., Guérin, G., Hasegawa, T., Hill, E.W., Jurka, J., Kiialainen, A., Lindgren, G., Liu, J., Magnani, E., Mickelson, J.R., Murray, J., Nergadze, S.G., Onofrio, R., Pedroni, S., Piras, M.F., Raudsepp, T., Rocchi, M., Røed, K.H., Ryder, O.A., Searle S., Skow, L., Swinburne, J.E., Syvänen, A.C., Tozaki, T., Valberg, S.J., Vaudin, M., White, J.R., Zody, M.C., Broad Institute Genome Sequencing Platform, Broad Institute Whole Genome Assembly Team, Lander, E.S., & Lindblad-Toh , K. (2009)  Genome sequence, comparative analysis and population genetics of the domestic horse (Equus caballus). Science 326(5954):865-867.http://www.sciencemag.org/content/326/5954/865.full

    Cook, D., Brooks, S., Bellone, R., & Bailey, E. (2008) Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses.  PLoS Genetics 4(9): e1000195 (doi:10.1371/journal.pgen.1000195).http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000195

    Bellone, R., Brooks, S., Murphy, B., Sandmeyer, L., Forsyth, G., Archer, S., Bailey, E., & Grahn, B. (2008) Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in Appaloosa horses (Equus caballus). Genetics 179:1861-1870.http://www.genetics.org/content/179/4/1861.long

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