Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus)
Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus)
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DOI：
10.1111/age.12187
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发表时间：
2014-10-01
期刊：
影响因子：
2.4
通讯作者：
Roed, K. H.
中科院分区：
文献类型：
--
作者：
Vage, D. I.;Nieminen, M.;Roed, K. H.
黑皮质素1受体（MC1R）的蛋白质编码区的测序，以确定潜在的变化影响驯鹿（Rangifer tarandus）的毛色。在核苷酸位置218处的TC序列变异（c.218T>C）导致氨基酸（aa）位置73处从甲硫氨酸变为苏氨酸（p.Met73Thr）。此外，在核苷酸位置839处发现TG序列变异（c.839T>G），导致氨基酸位置280处的苯丙氨酸被半胱氨酸取代（p.Phe280Cys）。发现两个序列变体（c.218C和c.839G）与没有这两个变体中任何一个的动物相比，与更深的腹部被毛密切相关。氨基酸变化p.Met73Thr影响与先前报道的p.Met73Lys相同的位置，从而在黑绵羊（Ovis aries）中产生MC1R的组成性激活，而p.Phe280Cys与先前报道的与北极狐（Alopex lagopus）中深色毛色相关的两种变体之一相同，支持在驯鹿中发现的两种变体是功能性的。在所分析的51头野生驯鹿中完全没有Thr73和Cys280，这提供了一些证据，表明这些变异在家养驯鹿群中更为常见。
The protein-coding region of melanocortin 1 receptor (MC1R) was sequenced to identify potential variation affecting coat color in reindeer (Rangifer tarandus). A TC sequence variation at nucleotide position 218 (c.218T>C) causing an amino acid (aa) change from methionine to threonine at aa position 73 (p.Met73Thr) was identified. In addition, a TG sequence variation was found at nucleotide position 839 (c.839T>G), causing phenylalanine to be exchanged by cysteine at aa position 280 (p.Phe280Cys). The two sequence variants (c.218C and c.839G) were found to be closely associated with a darker belly coat compared with animals not having any of these two variants. The aa acid change p.Met73Thr affects the same position as p.Met73Lys previously reported to give constitutive activation of MC1R in black sheep (Ovis aries), whereas p.Phe280Cys is identical to one of two variants previously reported to be associated with dark coat color in Arctic fox (Alopex lagopus), supporting that the two variants found in reindeer are functional. The complete absence of Thr73 and Cys280 among the 51 wild reindeer analyzed provides some evidence that these variants are more common in the domestic herds.