PloS one · 2013
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПоддержка правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Bellone Rebecca R, Holl Heather, Setaluri Vijayasaradhi, Devi Sulochana, Maddodi Nityanand, Archer Sheila, Sandmeyer Lynne, Ludwig Arne, Foerster Daniel, Pruvost Melanie, Reissmann Monika, Bortfeldt Ralf, Adelson David L, Lim Sim Lin, Nelson Janelle, Haase Bianca, Engensteiner Martina, Leeb Tosso, Forsyth George, Mienaltowski Michael J, Mahadevan Padmanabhan, Hofreiter Michael, Paijmans Johanna L A, Gonzalez-Fortes Gloria, Grahn Bruce, Brooks Samantha A
Аннотация
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<<0.0005), and CSNB, testing 43 horses (χ(2)=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.