This study conducted an investigation on three exons of the endothelin receptor type B (EDNRB) gene of Thai odd-eyed cats to find out the association between the variations in the gene and heterochromia iridis. DNA sequencing analysis was performed on 11 odd-eyed cats compared to 11 normal-eyed cats. Seven variations were found across the studied region (XM_003980457.2: c.610A>G, c.820+40C>T, c.821-14C>T, c.916A>G, c.1025+36G>T, c.1025+69A>T, and c.1025+138C>T) with two of them (c.610A>G and c.916A>G) causing amino acid changes (P.Asn128Ser and P.Val230Ala). There was no statistical association between the variations near the three exons of EDNRB and feline heterochromia iridis (chi-square test, P-value >0.05).
Bu çalışmada Tayland tek-göz kedilerinde endotelin reseptör tip B (EDNRB) geninin üç ekzonunda gen varyasyonu ile heterokromia iridis arasında bir ilişki olup olmadığı araştırıldı. On bir tek-göz kedide DNA sekans analizi yapıldı ve 11 normal gözlü kedi ile karşılaştırıldı. Çalışılan bölge itibarıyla yedi varyasyon (XM_003980457.2: c.610A>G, c.820+40C>T, c.821-14C>T, c.916A>G, c.1025+36G>T, c.1025+69A>T ve c.1025+138C>T) tespit edildi ve bunların ikisi (c.610A>G ve c.916A>G) amino asit değişimine (P.Asn128Ser ve P.Val230Ala) neden olmaktaydı. Çalışmada, üç EDNRB ekzonu yakınındaki varyasyonlar ile kedi heterokromia iridis arasında istatistiksel bir ilişki tespit edilmedi (ki kare testi, P-değeri >0.05).
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Betts MJ, Russell RB: Amino acid properties and consequences of substitutions. In, Barnes MR, Gray IC (Eds): Bioinformatics for Geneticistsed., 28, John Wiley & Sons, Ltd., England, 2003.
Bernini A, Temussi P: Nuclear magnetic resonace of amino acids, peptides, and proteins. In, Hughes AB (Ed): Amino Acids, Peptides and Proteins in Organic Chemistry: Analysis and Function of Amino Acids and Peptidesed., 97-154, John Wiley & Sons, Weinheim, Germany, 2011.
Haddad NM, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z, Pingault V, Mégarbané A: Molecular study of three lebanese and syrian patients with waardenburg syndrome and report of novel mutations in the EDNRB and MITF genes. Mol Syndromol, 1, 169-175, 2011. DOI: 10.1159/000322891
Lahav R: Endothelin receptor B is required for the expansion of melanocyte precursors and malignant melanoma. Int J Dev Biol, 49 (2-3): 173-180, 2005. DOI: 10.1387/ijdb.041951rl
Meulemans D, Bronner-Fraser M: Gene-regulatory interactions in neural crest evolution and development. Dev Cell, 7 (3): 291-299, 2004. DOI: 10.1016/j.devcel.2004.08.007
Taş S: Purification of DNA from clotted blood. Clin Chem, 36 (10): 1851, 1990.
Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D: Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: Implications for molecular genetic diagnostics. BMJ Open, 3 (3): e001917, 2013. DOI: 10.1136/bmjopen-2012-001917
Rixon A: The Illustrated encyclopedia of cat breeds. 256, London: Quatro Publishing, 1995.
Verheij JBGM, Kunze J, Osinga J, van Essen AJ, Hofstra RMW: ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet, 108 (3): 223-225, 2002. DOI: 10.1002/ajmg.10172
Cui L, Wong EHM, Cheng G, Firmato de Almeida M, So MT, Sham PC, Cherny SS, Tam PKH, Garcia-Barceló MM: Genetic analyses of a three generation family segregating Hirschsprung disease and iris heterochromia. PLoS ONE, 8 (6): e66631, 2013. DOI: 10.1371/journal. pone.0066631
Sato-Jin K, Nishimura EK, Akasaka E, Huber W, Nakano H, Miller A, Du J, Wu M, Hanada K, Sawamura D, Fisher DE, Imokawa G: Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. FASEB J, 22 (4): 1155-1168, 2008. DOI: 10.1096/ fj.07-9080com
Pla P, Larue L: Involvement of endothelin receptors in normal and pathological development of neural crest cells. Int J Dev Biol, 47 (5): 315- 325, 2003.
Philipp U, Lupp B, Mömke S, Stein V, Tipold A, Eule JC, Rehage J, Distl O: A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. PLoS ONE, 6 (12): e28857, 2011. DOI: 10.1371/journal.pone.0028857
Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drogemuller C, Gerber V, Henke D, Janda J, Jude R, Magdesian KG, Matthews JM, Poncet PA, Svansson V, Tozaki T, Wilkinson-White L, Penedo MC, Rieder S, Leeb T: Mutations in MITF and PAX3 cause “splashed white” and other white spotting phenotypes in horses. PLoS Genet, 8 (4): e1002653, 2012. DOI: 10.1371/journal.pgen.1002653
Jiang L, Chen H, Jiang W, Hu Z, Mei L, Xue J, He C, Liu Y, Xia K, Feng Y: Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. Biochem Biophys Res Commun, 408 (4): 620-624, 2011. DOI: 10.1016/j.bbrc.2011.04.072
Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun, 397 (1): 70-74, 2010. DOI: 10.1016/j.bbrc.2010.05.066
Imesch PD, Wallow IHL, Albert DM: The color of the human eye: A review of morphologic correlates and of some conditions that affect iridial pigmentation. Surv Ophthalmol, 41, S117-S123, 1997. DOI: 10.1016/ S0039-6257(97)80018-5