Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.
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DOI：
10.1371/journal.pone.0078280
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Brooks SA
中科院分区：
文献类型：
--
作者：
Bellone RR;Holl H;Setaluri V;Devi S;Maddodi N;Archer S;Sandmeyer L;Ludwig A;Foerster D;Pruvost M;Reissmann M;Bortfeldt R;Adelson DL;Lim SL;Nelson J;Haase B;Engensteiner M;Leeb T;Forsyth G;Mienaltowski MJ;Mahadevan P;Hofreiter M;Paijmans JL;Gonzalez-Fortes G;Grahn B;Brooks SA
豹纹复杂斑疹是由不完全显性基因（LP）引起的一组白色斑疹，其中纯合子（LP/LP）也受到先天性静止性夜盲症的影响。以往的研究表明，瞬时受体电位阳离子通道，M亚家族，成员1 （TRPM1）是CSNB和LP的最佳候选基因。RNA-Seq数据确定TRPM1内含子1中1378 bp的插入是潜在的原因。这种内源性逆转录病毒的长末端重复（LTR）插入与LP（511匹马）和CSNB（43匹马）完全相关（χ2=1022.00, p<<0.0005）。LTR被证明通过过早聚腺苷化破坏TRPM1的转录。此外，虽然有害的转座因子插入应该被快速选择，但在三个古代DNA样本中对该插入的鉴定表明，它在马的基因库中至少维持了17,000年。这项研究首次描述了LTR插入与色素沉着表型和眼部疾病相关。
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 (χ2=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=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.
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影响因子：
4.3
作者：
Devi S;Markandeya Y;Maddodi N;Dhingra A;Vardi N;Balijepalli RC;Setaluri V
通讯作者：
Setaluri V
DOI：
10.1146/annurev-genom-082509-141802
发表时间：
2011
影响因子：
8.7
作者：
Beck CR;Garcia-Perez JL;Badge RM;Moran JV
通讯作者：
Moran JV
DOI：
10.1111/j.1460-9568.2011.07944.x
发表时间：
2012-01
期刊：
The European journal of neuroscience
影响因子：
--
作者：
Hughes S;Pothecary CA;Jagannath A;Foster RG;Hankins MW;Peirson SN
通讯作者：
Peirson SN
影响因子：
30.8
作者：
Chuong, Edward B.;Rumi, M. A. Karim;Soares, Michael J.;Baker, Julie C.
通讯作者：
Baker, Julie C.
影响因子：
5.5
作者：
Devi, Sulochana;Kedlaya, Rajendra;Setaluri, Vijayasaradhi
通讯作者：
Setaluri, Vijayasaradhi