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Issues in Genetic Testing in Navajo Populations - Murray Brilliant PhD
Issues in Genetic Testing in Navajo Populations  
2010 SERGG Annual Meeting
University of Florida Health
Pediatric Specialties
Tallahassee, FL  
July 24th, 2010

About the Presentation
Dr. Brilliant presents at the 2010 SERGG Annual Meeting.

Selected Publications by the Presenter
  1. Chikaraishi, DM, Brilliant, MH & Lewis, EJ.  Cloning and characterization of rat-brain-specific transcripts:  rare, brain-specific transcripts and tyrosine hydroxylase.  Cold Spring Harbor Symp. Quant. Biol. 48: 309 18, 1983.
  2. Brilliant, MH, Sueoka, N & Chikaraishi, DM.  Cloning of DNA corresponding to rare transcripts of rat brain:  evidence of transcriptional and post-transcriptional control and of the existence of nonpolyadenylated transcripts.  Mol. Cell Biol. 4: 2187 2197, 1984.
  3. Brilliant, MH, Niemann, MM & Eicher, EM.  Murine tyrosine hydroxylase maps to the distal end of chromosome 7 within a region conserved in mouse and man. J. Neurogenetics 4: 259 266, 1987.
  4. Brilliant, MH, Szabo, G, Katarova, Z, Kozak, C, Glazer, T, Greenspan, R & Houseman D.  Sequences homologous to glutamic acid decarboxylase (GAD) cDNA are present on mouse chromosomes 2 and 10.  Genomics 6: 115-122, 1990.
  5. Fung BP, Brilliant, MH, & Chikaraishi, DM.  Brain-specific poly(A)  transcripts are detected in poly(A)+ RNA:  Do Complex poly(A)- brain RNAs really exist?  J. Neurosci. 11: 701-708, 1991.
  6. Brilliant, MH, Gondo, Y, & Eicher, EM.  Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning.  Science 252: 566-569, 1991.
  7. Nakatsu, Y, Gondo, Y & Brilliant, MH.  The p locus is closely linked to the mouse homologue of a gene from the Prader-Willi Chromosomal Region.  Mammalian Genome, 2: 69-71, 1992.
  8. Brilliant, MH, Gondo, Y, & Eicher, EM.  The Mouse Pink-Eyed Unstable Mutation:  A DNA Duplication Revealed by Genome Scanning.  (Invited paper) In:  Proceedings of the XIVth International Pigment Cell Conference, Y. Mishima, Ed., Pigment Cell Research (Suppl.) 2: 271-274, 1992.
  9. Brilliant, MH & Gondo, Y.  Molecular characterization of the pun allele of the mouse pink-eyed dilution allele.  (Invited paper)  Pigment Cell Research 5: 271-273, 1992.
  10. Brilliant, MH.  The mouse pink-eyed dilution locus: A model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.  (Review Article) Mammalian Genome. 3: 187-191, 1992.
  11. Lyon, MF, King, TR, Gondo, Y, Gardner, JM, Nakatsu, Y, Eicher, EM, & Brilliant, MH.  Genetic and molecular analysis of recessive alleles at the pink-eyed dilution locus.  Proc. Natl. Acad. Sci. USA 89: 6968-6972, 1992.
  12. Gardner, JM, Nakatsu, Y, Gondo, Y, Lee, S, Lyon, MF, King, RA, & Brilliant, MH.  The mouse pink-eyed dilution gene:  Association with human Prader-Willi and Angelman Syndromes.  Science 257: 1121-1124, 1992.
  13. Banerjee, SA, Hoppe, P, Brilliant, MH, & Chikaraishi, DM.  5' flanking sequences of the rat tyrosine hydroxlase gene target accurate tissue-specific, developmental and transsynaptic expression in transgenic mice.  J. Neuroscience, 12: 4460-4467, 1992.
  14. Chang-Yeh, A, Mold, DE, Brilliant, MH, & Huang, RCC.  MIPP IAP retrotransposition is mouse strain specific.  Proc. Natl. Acad. Sci. USA, 90: 292-296, 1993.
  15. Gondo, Y, Gardner, JM, Nakatsu, Y, Durham-Pierre, D, Deveau, SA, Kuper, C & Brilliant, MH.  High frequency genetic reversion mediated by a DNA duplication:  The mouse pink-eyed unstable mutation.  Proc. Natl. Acad. Sci. USA,  90: 296-301, 1993.
  16. Nakatsu, Y, Tyndale, RF, DeLorey, TM, Durham-Pierre D, Gardner, JM, McDanel, HJ, Nguyen, Q, Wagstaff, J, Lalande, M, Sikela, JM, Olsen, RW, Tobin, AJ & Brilliant, MH.  A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus.  Nature, 364: 448-450, 1993.
  17. Durham-Pierre, D, Gardner, JM, Nakatsu, Y, King, RA, Francke, U, Ching, A, Aquaron, R, del Marmol, V & Brilliant, MH. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism (OCA2).  Nature Genetics, 7:176-179, 1994.
  18. Magliocco, AM & Brilliant, MH.  Genome scanning detects genetic alterations in human ovarian cancer, Human Mutation, 4:141-149, 1994.
  19. Brilliant, MH, Ching, A, Nakatsu, Y & Eicher, EM.  The original pink-eyed dilution mutation (p) arose in Asiatic mice: Implications for the H-4 minor histocompatibility antigen, MyoD1 regulation and the origin of inbred strains.  Genetics, 138:203-211, 1994.
  20. Rosemblat, S, Durham-Pierre, D, Gardner, JM, Nakatsu, Y, Brilliant, MH & Orlow, SJ. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.  Proc. Natl. Acad. Sci. USA, 91:12071-12075, 1994.
  21. Brilliant, MH, Williams, RW, Oakey, RJ., Angel, JM, Conti, CJ, & Holdener, B. Chromosome 7.  Mammalian Genome, 5: S104-S123, Special Issue, 1994.
  22. Brilliant, MH, King, RA, Francke, U, Schuffenhauer, S, Meitinger, T, Gardner, JM, Durham-Pierre, D, & Nakatsu, Y. (Invited paper) The mouse pink-eyed dilution gene: association with hypopigmenation in Prader-Willi and Angelman syndromes, and with human OCA2.  Pigment Cell Research, 7:398-402, 1994.
  23. Brilliant, MH, Gondo, Y & Magliocco, AM.  One dimensional Genome Scanning:  Identification of the basis of a mouse mutation and identification of genomic changes in ovarian carcinoma.  Electrophoresis, 16:163-167, 1995.
  24. Gondo, Y & Brilliant, MH.  Theoretical basis of one dimensional Genome Scanning: A direct method to identify the site of a mutation.  Electrophoresis, 16:174-178, 1995.
  25. Greger, V, Knoll, J, Woolf, E, Glatt, K, Tyndale, RF, DeLorey, TM, Olsen, RW, Tobin, AJ, Sikela, JM, Nakatsu, Y, Brilliant, MH, Whiting, PJ & Lalande, M.  Mapping of the human GABAA receptor subunit ï§3 to the receptor cluster on chromosome 15 and construction of a high resolution map.  Genomics, 26: 258-264, 1995.
  26. Gahl, WA, Potterf, B, Durham-Pierre, D, Brilliant, MH & Hearing, VJ.  Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes.  Pigment Cell Research, 8: 229-233, 1995.
  27. Brilliant, MH, Williams, RW, Holdener, B & Angel, JM.  Chromosome 7.  Mammalian Genome, 6: S135-S150, 1996.
  28. Durham-Pierre, D, King, RA, Naber, JM, Laken, S & Brilliant, MH.  Estimation of the carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African Americans.  Human Mutation, 7: 370-373, 1996.
  29. Oakey, RJ, Keiper, NM, Ching, AS & Brilliant, MH.  Molecular analysis of the cDNAs encoded by the pJ and pun alleles of the pink-eyed dilution locus.  Mammalian Genome, 7:315-316, 1996.
  30. Oetting, WS, Brilliant, MH & King, RA.  The clinical spectrum of albinism in humans.  Molecular Medicine Today, 2: 330-335, 1996.
  31. Homanics, GE, DeLorey, TM, Firestone, LL, Quinlan, JJ, Handforth, A, Minassian, B, Korpi, ER, Makela, R, Brilliant, MH, Hagiwara, N, Ferguson, C, Snyder, K, Delgado-Escueta, AV & Olsen, RW.  Mice devoid of ï§-aminobutyrate type A receptor ï¢3 subunit have epilepsy and cleft palate. Proc. Natl. Acad. Sci. USA, 94:4143-4148, 1997.
  32. Brilliant, MH, Williams, RW, Holdener, BC, Angel, JM, Stern, M & Hunter, K.  Chromosome 7.  Mammalian Genome, 7:S121-S142, 1997.
  33. Lund, PM, Puri, N, Durham-Pierre, D, King, RA & Brilliant, MH.  Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. J. Medical Genetics, 34:733-735, 1997.
  34. Gardner, JM, Wildenberg, SC, Keiper, NM, Novak, EK, Rusiniak, ME, Swank, RT, Puri, N, Finger, JN, Hagiwara, N, Lehman, AL, Gales, TL, Bayer, ME, King, RA & Brilliant, MH.  The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak Syndrome (HPS).  Proc. Natl. Acad. Sci. USA, 94:9238-9243, 1997.
  35. Puri, N, Durham-Pierre, D, Aquaron, R, Lund, PM, King, RA & Brilliant, MH.  Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7 kb deletion allele of the P gene.  Human Genetics, 100:651-656, 1997.
  36. Hubbard, FC, Goodrow, TL, Liu, S-C, Brilliant, MH, Basset, P, Mains, RE & Klein-Szanto, JPA.  Expression of PACE4 in chemically-induced carcinoma is associated with spindle cell tumor conversion and increased invasive ability.  Cancer Research, 57:5226-5231, 1997.
  37. Brilliant, MH & Barsh, GS.  “Genes Regulating the Type of Melanin Pigment Produced by the Melanocyte”  In: The Pigmentary System: Physiology and Pathophysiology, J. J. Nordlund, R. E. Boissy, V. J. Hearing, R. A. King, W. S. Oetting, and J. P. Ortonne, Eds, Oxford University Press, 1998.
  38. Wildenberg, SC, Fryer, JP, Gardner, JM, Oetting, WS, Brilliant, MH, & King, RA.  Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.  J. Invest. Dermatol., 110:777-78, 1998.
  39. Lehman, AL, Nakatsu, Y, Ching, A, Bronson, RT, Oakey, RJ, Keiper-Hyrnko, N, Finger, JN, Durham-Pierre, D, Horton, DB, Newton, JM, Lyon, MF & Brilliant, MH.  A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.  Proc. Natl. Acad. Sci. USA, 95:9436-9441, 1998.
  40. Sweet, HO, Brilliant, MH, Cook, SA, Johnson, KR & Davisson, MT.  A new alleleic series for the underwhite gene on mouse Chromosome 15.  J. Heredity, 89:546-51, 1998.
  41. Oetting, WS, Gardner, JM, Fryer, JP, Ching, A, Durham-Pierre, D, King, RA & Brilliant, MH.  Mutations of the human P gene associated with Type II Oculocutaneous Albinism (OCA2).  Human Mutation, 12: 434, 1998. Online Citation:
  42. Orlow, SJ & Brilliant, MH.  The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye.  Exp. Eye Res., 68:147-54, 1999.
  43. Hagiwara, N, Klewer, S, Samson, R, Lyon, MF, Erickson, D & Brilliant, MH. An x-ray induced mutation in the mouse associated with myopathy, heart block and disruption of the Sox6 gene, Proc. Natl. Acad. Sci. USA, 97:4180-4185, 2000.
  44. Lehman, AL, Silvers, WK, Puri, N, Wakamatsu, K, Ito, S & Brilliant, MH.  The underwhite (uw) locus acts autonomously and reduces the production of melanin. J. Invest. Dermatol., 115:601-606, 2000.
  45. Puri, N, Gardner, JM & Brilliant, MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J. Invest. Dermatol., 115:607-613, 2000.
  46. Cohen-Barak, O, Hagiwara, N, Arlt, MF, Horton, JP & Brilliant, MH.  Cloning, characterization and chromosome mapping of the human SOX6 gene.  Gene, 265:157-164, 2001.
  47. Brilliant, MH.  The p (pink-eyed dilution) and Human P Genes, Oculocutaneous Albinism Type 2 (OCA2), and Melanosomal pH. (Review Article) Pigment Cell Res. 14:86-93, 2001.
  48. Newton, JM, Cohen-Barak O, Hagiwara, N, Gardner, JM, Davisson, MT, King, RA & Brilliant, MH. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.  Am. J. Hum. Genet. 69:981-988, 2001.
  49. Yi, Z, Garrison, N, Cohen-Barak, O, Karafet, TM, King, RA, Erickson, RA, Hammer, MF & Brilliant, MH.  A 122.5 kb deletion of the P gene underlies the high prevalence of Oculocutaneous Albinism Type 2 (OCA2) in the Navajo population. Am. J. Hum. Genet. 72:62-72, 2003.
  50. Hagiwara, N, Katarova, Z, Siracusa, L & Brilliant, MH. Non-neuronal expression of the GABAA ï¢3 subunit gene is required for normal palate development in mice. Devel. Biol. 254:93-101, 2003.
  51. Cohen-Barak, O, Yi, Z, Hagiwara, N, Monzen, K, Komuro, I & Brilliant, MH. SOX6 Regulation of cardiac myocyte development. Nucleic Acids Res. 31:5941-5948, 2003.
  52. Garrison, NA., Yi, Z, Cohen-Barak, O, Huizing, M, Hartnell, LM, Gahl, WA & Brilliant, MH. Gene Mutations in Patients With Oculocutaneous Albinism and Findings Suggestive of Hermansky-Pudlak Syndrome, J. Med. Genet. 41:e86, 2004.
  53. Odeh, H, Hagiwara, N, Skynner, M, Mitchem, KL, Beyer, LA, Allen, N, Brilliant, M, Lebart, MC, Dolan, DF, Raphael, Y & Kohrman, DC. Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus. Audiol Neurootol. 9:303-314, 2004.
  54. Ikinciogullari, A, Tekin, M, Dogu, F, Reisli, I, Tanir, G, Yi, Z, Garrison, N, Brilliant ,MH, Babacan, E. Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. Eur J Pediatr. 164:177-179. 2005
  55. Brilliant, MH. “Molecular Regulation of Melanin Formation: Melanosome Transporter Proteins” In: The Pigmentary System: Physiology and Pathology. JJ Nordlund, RE Boissy, VJ Hearing, RA King, WS Oetting, & JP Ortonne, Eds, Blackwell Publishing, 2nd Edition, 2006.
  56. Brilliant, MH. GeneReview: Oculocutaneous Albinism Type  4. GeneReviews: Genetic Disease Online Reviews (Formerly GeneClinics)
  57. Yi, Z, Cohen-Barak, O, Hagiwara, N, Kingsley, PD, Fuchs, DA, Erickson, DT, Epner, EM, Palis, J & Brilliant, MH. Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genetics: 2(2):e14, 2006.
  58. Cohen-Barak, O, Erickson, DT,.Badowski, M, Fuchs, DA, Erickson, DT, Klassen, CL, Harris, DT & Brilliant, MH. Stem cell transplantation demonstrates that Sox6 represses ï¥y globin expression in definitive erythrocytes of adult mice. Exp. Hematol 35(3):358-367, 2007.
  59. Camenisch TD, Brilliant MH & Segal DJ. Critical parameters for genome editing using zinc finger nucleases. Mini Rev Med Chem. 8(7):669-676, 2008.
  60. Carrasco, A, Forbes, EM, Jeambrun, P, & Brilliant, MH. A Splice Site Mutation is the Cause of the High Prevalence of Oculocutaneous Albinism Type 2 in the Kuna Population. Pigment Cell and Melanoma Res., 22(5):645-647, 2009.
  61. Valenzuela, R, Henderson, MS, Kim, MH, Garrison, NA, Kelch, JT, Cohen-Barak, O, Erickson, DT, Meaney FJ, Walsh, JB, Cheng, KC, Ito, S, Wakamatsu, K, Frudakis, T, Thomas, M & Brilliant, MH.  Predicting Phenotype from Genotype: Normal Pigmentation.  J  Forensic Sci, J Forensic Sci. 55(2):315-322, 2010.
  62. Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC.  Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.  Am J Hum Genet. 86(2):148-160, 2010.
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