Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the appaloosa horse (Equus caballus)

Genetics

Volumn 179, Issue 4, 2008, Pages 1861-1870

  Bellone, Rebecca R ^a   Brooks, Samantha A ^b   Sandmeyer, Lynne ^c   Murphy, Barbara A ^d   Forsyth, George ^c   Archer, Sheila ^e   Bailey, Ernest ^b   Grahn, Bruce ^c  

^a UNIVERSITY OF TAMPA   (United States)

^b UNIVERSITY OF KENTUCKY   (United States)

^c UNIVERSITY OF SASKATCHEWAN   (Canada)

^d UNIVERSITY COLLEGE DUBLIN   (Ireland)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MYOTUBULARIN RELATED PROTEIN 10; TIGHT JUNCTION PROTEIN 1; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRANSIENT RECEPTOR POTENTIAL CHANNEL M1; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EQUUS CABALLUS; FEMALE; GENE; GENE EXPRESSION; GENE LOCUS; HOMOZYGOSITY; HORSE; MALE; NIGHT BLINDNESS; NONHUMAN; OCULOCUTANEOUS ALBINISM TYPE 2 GENE; OTU DOMAIN CONTAINING 7A GENE; PRIORITY JOURNAL; RETINA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN PIGMENTATION; ANIMAL; ANIMAL DISEASE; DOMINANT GENE; EYE MALFORMATION; GENETICS; GENOTYPE; HORSE DISEASE; METABOLISM; PIGMENTATION;

EQUIDAE; EQUUS CABALLUS;

ANIMALS; EYE ABNORMALITIES; GENE EXPRESSION; GENES, DOMINANT; GENOTYPE; HORSE DISEASES; HORSES; NIGHT BLINDNESS; PIGMENTATION; TRPM CATION CHANNELS;

EID: 55749100524     PISSN: 00166731     EISSN: 00166731     Source Type: Journal    
DOI: 10.1534/genetics.108.088807     Document Type: Article

References (62)

1. BELLONE, R., T. LEAR, D. L. ADELSON and E. BAILEY, 2006a Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization. Cytogenet. Genome Res. 114: 93A.
2. BELLONE, R., S. LAWSON, N. HUNTER, S. ARCHER and E. BAILEY, 2006b Analysis of a SNP in exon 7 of equine OCA2 and its exclusion as a cause for appaloosa spotting. Anim. Genet. 37: 525.
3. BENNETT, D. C., and M. L. LAMOREUX, 2003 The color loci of mice: a genetic century. Pigment Cell Res. 16: 333-344.
4. BERGER, S. A., 2006 Signaling pathways influencing SLF and c-kit-mediated survival and proliferation. Immunol. Res. 35: 1-12.
5. BROOKS, S. A., and E. BAILEY, 2005 Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mamm. Genome 11: 893-899.
6. BROOKS, S., T. L. LEAR, D. ADELSON and E. BAILEY, 2007 A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet. Genome Res. 119: 225-230.
7. BRUNBERG, E., L. ANDERSSON, G. COTHRAN, K. SANDBERG, S. MIKKO et al., 2006 A missense mutation in PMEL17 is associated with the silver coat color in the horse. BMC Genet. 7: 46.
8. CHOMCZYNSKI, P., and N. SACCHI, 1987 Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162: 156-159.
9. CLAPHAM, D. E., L. W. RUNNELS and C. STRÜBING, 2001 The TRP ion channel family. Nat. Rev. Neurosci. 2: 387-396.
10. DEEDS, J., F. CRONIN and L. M. DUNCAN, 2000 Patterns of melastatin mRNA expression in melanocytic tumors. Hum. Pathol. 31: 1346-1356.
11. DRYJA, T. P., T. L. MCGEE, E. L. BERSON, G. A. FISHMAN, M. A. SANDBERG et al., 2005 Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc. Natl. Acad. Sci. USA 102: 4884-4889.
12. DUFFY, D. L., G. W. MONTGOMERY, W. CHEN, Z. Z. ZHAO, L. LE et al., 2007 A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am. J. Hum. Genet. 80: 241-252.
13. DUNCAN, L. M., J. DEEDS, J. HUNTER, J. SHAO, L. M. HOMGREN et al., 1998 Down-regulation of the novel gene melanstatin correlates with potential for melanomametastasis. Cancer Res. 58: 1515-1520.
14. DUNCAN, L. M., J. DEEDS, F. E. CRONIN, M. DONOVAN, A. J. SOBER et al., 2001 Melastatin expression and prognosis in cutaneous malignant melanoma. J. Clin. Oncol. 19: 568-576.
15. DUVOISIN, R. M., C. W. MORGANS and W. R. TAYLOR, 2005 The mGluR6 receptors in the retina: analysis of a unique G-protein signaling pathway. Cell Sci. Rev. 2: 225-243.
16. EIBERG, H., J. TROELSEN, M. NIELSEN, A. MIKKELSEN, J. MENGEL-FROM et al., 2008 Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located in the HERC2 gene inhibiting OCA2 expression. Hum. Genet. 123: 177-187.
17. ERICKSON, C. A., 1993 From the crest to the periphery: control of pigment cell migration and lineage segregation. Pigment Cell Res. 6: 336-347.
18. FANG, D., and V. SETALURI, 2000 Expression and up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells. Biochem. Biophys. Res. Commun. 279: 53-61.
19. GANSS, R., L. MONTOLIU, A. P. MONAGHAN and G. SCHÜTZ, 1994 A cell-specific enhancer far upstream of the mouse tyrosinase gene confers high level and copy number-related expression in transgenic mice. EMBO J. 13: 3083-3093.
20. GARDNER, J. M., Y. NAKATSU, Y. GONDO, S. LEE, M. F. LYON et al., 1992 The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257: 1121-1124.
21. GOMMERMAN, J. L., and S. A. BERGER, 1998 Protection from apoptosis by steel factor but not interleukin-3 is reversed through blockade of calcium influx. Blood 91: 1891-1900.
22. HAASE, B., S. A. BROOKS, A. SCHLUMBAUM, P. AZOR, E. BAILEY et al., 2007 Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet. 3: e195.
23. HUNTER, J. J., J. SHAO, J. S. SMUTKO, B. J. DUSSAULT, D. L. NAGLE et al., 1998 Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Genomics 54: 116-123.
24. KIM, C., 2004 Transient receptor ion channels and animal sensation: lessons from Drosophila functional research. J. Biochem. Mol. Biol. 37: 114-121.
25. KOIKE, C., R. SANUKI, K. MIYATA, T. KOYASU, T. MIYOSHI et al., 2007 The functional analysis of TRPM1 in retinal bipolar cells. Neurosci. Res. 58S: S41.
26. KOMARÓMY, A. M., S. E. ANDREW, H. L. SAPP, JR., D. E. BROOKS and W. W. DAWSON, 2003 Flash electroretinography in standing horses using the DTL microfiber electrode. Vet. Ophthalmol. 6: 27-33.
27. LAPP, R. A., and G. CARR, 1998 Applied appaloosa color genetics. Appaloosa J. 52: 113-115.
28. LEE, S. T., R. D. NICHOLLS, R. E. SCHNUR, L. C. GUIDA, J. LU-KUO et al., 1994 Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum. Mol. Genet. 3: 2047-2051.
29. MACLEOD, J. N., N. BURTON-WURSTER, D. N. GU and G. LUST, 1996 Fibronectin mRNA splice variant in articular cartilage lacks bases encoding the V, III-15, and I-10 protein segments. J. Biol. Chem. 271(31): 18954-18960.
30. MARIAT, D., S. TAOURIT and G. GUÉRIN, 2003 A mutation in the MATP gene causes the cream coat colour in the horse. Genet. Sel. Evol. 35: 119-133.
31. MARKLUND, L., M. J. MOLLER, K. SANDBERG and L. ANDERSSON, 1996 A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mamm. Genome 7: 895-899.
32. METALLINOS, D. L., A. T. BOWLING and J. RINE, 1998 A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease. Mamm. Genome 9: 426-431.
33. MILLER, R. W., 1965 Appaloosa coat color inheritance. Ph.D. Thesis, Animal Science Department, Montana State University, Bozeman, MT.
34. MURPHY, B. A., M. M. VICK, D. R. SESSIONS, R. F. COOK and B. P. FITZGERALD, 2006 Evidence of an oscillating peripheral clock in an equine fibroblast cell line and adipose tissue but not in peripheral blood. J. Comp. Physiol. A Neuroethol. Sens. Neural Behav. Physiol. 192: 743-751.
35. NAKANISHI, S., Y. NAKAJIMA, M. MASU, Y. UEDA, K. NAKAHARA et al., 1998 Glutamate receptors: brain function and signal transduction. Brain Res. Rev. 26: 230-235.
36. NI-KOMATSU, L., and S. J. ORLOW, 2006 Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. Exp. Eye Res. 82: 519-528.
37. NILIUS, B., 2007 TRP channels in disease. Biochim. Biophys. Acta 1772: 805-812.
38. NOMURA, M., H. IWAKABE, Y. TAGAWA, T. MIYOSHI, Y. YAMASHITA et al., 1994 Developmentally regulated postsynaptic localization of a metabotropic glutamate receptor in rat rod biopolar cells. Cell 77: 361-369.
39. PFAFFL, M. W., 2001 A new mathmatical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29: e45.
40. PFAFFL, M. W., G. W. HORGAN and L. DEMPFLE, 2002 Relative Expression software tool (REST) for group-wise comparison and stastistical analysis of relative expression results in real-time PCR. Nucleic Acids Res. 30: e36.
41. PORTER, S. D., and C. J. MEYER, 1994 A distal tyrosinase upstream element stimulates gene expression in neural-crest-derived melanocytes of transgenic mice: position-independent and mosaic expression. Development 120: 2103-2111.
42. PORTER, S., L. LARUE and B. MINTZ, 1991 Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygous chinchilla-mottled mice. Dev. Genet. 12: 393-402.
43. RAY, K., M. CHAKI and M. SENGUPTA, 2007 Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Prog. Retin. Eye Res. 26: 323-358.
44. REBHUN, W. C., E. R. LOEW, R. C. RIIS and L. J. LARATTA, 1984 Clinical manifestations of night blindness in the Appaloosa horse. Comp. Contin. Edu. Pract. Vet. 6: S103-S106.
45. RIEDER, S., S. TAOURIT, D. MARIAT, B. LANGLOIS and G. GUÉRIN, 2001 Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mamm. Genome 12: 450-455.
46. SANDMEYER, L., C. B. BREAUX, S. ARCHER and B. H. GRAHN, 2007 Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Vet. Ophthalmol. 10: 368-375.
47. SCHUBERT, G., and H. BORNSHEIN, 1952 Beitrag zur A lyse des menschlichen Electroretinogram. Ophthalmolgica 123: 396-413.
48. SILVERS, W. K, 1979 The Coat Colors of Mice. Springer-Verlag, New York.
49. SPONENBERG, D. P., and B. V. BEAVER, 1983 Horse Color. Texas A&M Press, College Station, TX.
50. SPONENBERG, D. P., G. CARR, E. SIMAK and K. SCHWINK, 1990 The inheritance of the leopard complex of spotting patterns in horses. J. Hered. 81: 323-331.
51. STEINGRÍMSSON, E., N. G. COPELAND and N. A. JENKINS, 2006 Mouse coat color mutations: from fancy mice to functional genomics. Dev. Dyn. 235: 2401-2411.
52. STRYER, L., 1991 Visual excitation and recovery. J. Biol. Chem. 266: 10711-10714.
53. STURM, R. A., R. D. TEASDALE and N. F. BOX, 2001 Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 277: 49-62.
54. SZABO, V., H. J. KREIENKAMP, T. ROSENBERG and A. GAL, 2007 Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum. Mutat. 28: 741-742.
55. TERRY, R. B., S. ARCHER, S. BROOKS, D. BERNOCO and E. BAILEY, 2004 Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Anim. Genet. 35: 134-137.
56. TOYOFUKU, K., I. WADA, R. A. SPRITZ and V. J. HEARING, 2001 The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem. J. 355: 259-269.
57. WITZEL, D. A., J. R. JOYCE and E. L. SMITH, 1977 Electroretinography of congenital night blindness in an Appaloosa filly. J. Eq. Med. Surg. 1: 226-229.
58. WITZEL, D. A., E. L. SMITH, R. D. WILSON and G. D. AGUIRRE, 1978 Congenital stationary night blindness: an animal model. Invest. Ophthalmol. Vis. Sci. 1978(117): 788-793.
59. XIAO, X., X. JIA, X. GUO, S. LI, Z. YANG et al., 2006 CSNB1 in Chinese families associated with novel mutations in NYX. J. Hum. Genet. 51: 634-640.
60. XU, X. Z., F. MOEBIUS, D. L. GILL and C. MONTELL, 2001 Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform. Proc. Natl. Acad. Sci. USA 98: 10692-10697.
61. ZEITZ, C., B. KLOECKENER-GRUISSEM, U. FORSTER, S. KOHL, I. MAGYAR et al., 2006 Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am. J. Hum. Genet. 79: 657-667.
62. ZHIQI, S., M. H. SOLTANI, K. M. BHAT, N. SANGHA, D. FANG et al., 2004 Human melastatin 1 (TRPM1) is regulated by MITF and produces multiple polypeptide isoforms in melanocytes and melanoma. Melanoma Res. 14: 509-516.