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首页> 外文期刊>Pigment cell research >The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregulation of the Normande Agouti gene
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The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregulation of the Normande Agouti gene

机译：全长Bos taurus LINE元件的插入导致Normande Agouti基因的转录失控

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摘要

Mammalian pigmentation is controlled by the concerted action of Tyr, Tyrp1 and Dct producing eumelanin and/or pheomelanin in melanocytes. The ratio of these two pigments is determined by the agonist alpha-melanocyte stimulating hormone and the antagonist Agouti protein acting on the Mc1r. Here we show that the Agouti gene is over-expressed in Normande breed compared with Prim'Holstein breed. The Normande cattle have a characteristic coat color phenotype with a variable presence of black (eumelanin) hair over a red/brown background. We have found a previously undescribed full-length L1-BT element inserted in the 5'-genomic sequence of the Agouti gene in Normande cattle which promotes the over-expression of alternative transcripts. The variable expression of the alternative transcript directed by the long interspersed nuclear element promoter may be the origin of the brindle coat color pattern of the Normande breed. This new bovine Agouti allele isolated in Normande breed has been named A(br). Finally, as ectopic over-expression of Agouti in A(y) mice is responsible for the obesity syndrome, we discuss the possible consequences of A(br) for meat and milk production in cattle.
机译：哺乳动物的色素沉着是由Tyr，Tyrp1和Dct在黑色素细胞中产生Eumelanin和/或pheomelanin的协同作用控制的。这两种色素的比例由激动剂α-黑素细胞刺激激素和作用于Mc1r的拮抗剂Agouti蛋白确定。在这里，我们显示，与Prim'Holstein品种相比，Agouti基因在Normande品种中过表达。诺曼德牛具有特征性的毛色表型，在红色/棕色背景下会出现黑色（真木兰）毛。我们在诺曼德牛的Agouti基因的5'基因组序列中发现了一个先前未描述的全长L1-BT元件，该元件促进了替代转录本的过表达。由长的散布的核元件启动子指导的替代转录物的可变表达可能是诺曼底犬品种的烟草花叶毛颜色模式的起源。在Normande品种中分离出的这个新的牛Agouti等位基因已被命名为A（br）。最后，由于A（y）小鼠中Agouti的异位过度表达是肥胖综合征的原因，我们讨论了A（br）对牛肉和奶生产的可能影响。

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