Rebecca Bellone

image of Rebecca Bellone

Associate Adjunct Prof

Departments

Veterinary Genetics Laboratory
Vet Med - Population Health and Reproduction

Offices and Labs

+1 530 752 9299

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. Most recently I identified a long terminal repeat insertion in a calcium ion channel gene, TRPM1, as the causal variant for both a white spotting pattern in horses (leopard complex spotting) and an eye disorder (congenital stationary night blindness). Work is on-going to understand the role that TRPM1 plays in the disruption of pigmentation. I am also investigating the genetics of several other pigmentation phenotypes and/or ocular disorders, among these is the second most common tumor in the horse, limbal 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.

Degrees

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

Research Interests

Leopard complex spotting in horses as a genetic model for human vitiligo

Leopard complex spotting is characterized by white depigmentation patterns observed in several breeds of horses.   Akin to human generalized vitiligo , these spotting patterns in horse are bilateral and symmetrical and are characterized by the progressive loss of pigment as the horse ages. Ocular diseases have been associated with both vitiligo in humans and leopard complex spotting in horses.  The inheritance of these depigmentation patterns in horse is also polygenic but one locus , namely LP, controls for the presence or absence of  these spotting patterns while modifiers are thought to contribute to the amount of white spotting observed. A 1378bp  insertion in the calcium ion channel gene, Transient Receptor Potential Cation Channel Subfamily M, Member 1 (TRPM1,) is believed to be the cuase of both LP and one of the associated ocular conditions (CSNB).   However the precise functional mechanims that this insertion plays is not understood.  Additionally one  modifying locus has been investigated, PATN1, and  a dominant allele results in large amounts of dipigmentaiton.  However the precise molecular mechnaims of PATN1 is not yet understoodThe goal of this project is to better define the functional role of the TRPM1 insertion in pigmentaiton while using genomic approaches to identify other genes that modify LP. Our hope is that studying this naturally occuring model of vitiligo will unravel the biochemical mechanisms explaining both melanocyte loss and ocular issues in vitiligo.

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 (LSCC) 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 LSCC 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 for this project.  Interesting, Haflingers appear to be overrepresented for this cancer with two retrospective studies identifying 69% and 26% of the affected horses as Haflingers.  Additionally, a statistically lower age of onset amongst the affected Haflingers (average age 8.7 years) compared to other breeds (12.1 years) was detected (T = 3.59, P = 0.002). Taken together, high prevalence in a single breed and lower mean age of onset, these data are indicative of a genetic basis for risk of disease in this breed. Currenlty genetic and genomic approaches are being utilized to identify and interogate associated loci.

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

ProfessionalSocieties

International Society of Animal Genetics
Equine Science Society

CBS Grad Group Affiliations

Integrated Genetics and Genomics

Specialties / Focus

Integrated Genetics and Genomics
  • Integrated Genetics and Genomics
  • Animal Genomics

Graduate Groups not Housed in CBS

Animal Biology Graduate Group

Publications

10/28/2015 10:59:51 AM
  • Lassaline, M., Cranford, T.L., Latimer, C.A., Bellone, R. (2014) 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