Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.

Autor: Rebecca R Bellone, Heather Holl, Vijayasaradhi Setaluri, Sulochana Devi, Nityanand Maddodi, Sheila Archer, Lynne Sandmeyer, Arne Ludwig, Daniel Foerster, Melanie Pruvost, Monika Reissmann, Ralf Bortfeldt, David L Adelson, Sim Lin Lim, Janelle Nelson, Bianca Haase, Martina Engensteiner, Tosso Leeb, George Forsyth, Michael J Mienaltowski, Padmanabhan Mahadevan, Michael Hofreiter, Johanna L A Paijmans, Gloria Gonzalez-Fortes, Bruce Grahn, Samantha A Brooks
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: PLoS ONE, Vol 8, Iss 10, p e78280 (2013)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0078280
Popis: Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ(2)=1022.00, p<
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