Melanism in peromyscus is caused by independent mutations in agouti.
Melanism in peromyscus is caused by independent mutations in agouti.
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DOI：
10.1371/journal.pone.0006435
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发表时间：
2009-07-30
期刊：
影响因子：
3.7
通讯作者：
Hoekstra HE
中科院分区：
文献类型：
--
作者：
Kingsley EP;Manceau M;Wiley CD;Hoekstra HE
识别独立进化的表型的分子基础可以提供对遗传和发育限制影响表型多样性维持的方式的深入了解。哺乳动物中的黑色素（深色色素）表型提供了一个有效的系统，在其中研究自然发生的突变表型的遗传基础，因为黑变发生在许多哺乳动物中，哺乳动物色素沉着途径是很好理解的。已知一些关键色素沉着位点的自发等位基因在哺乳动物的家庭或实验室种群中引起黑化，但在自然种群中，一个基因的突变，黑皮质素-1受体（Mc 1 r），在绝大多数情况下，可能是由于其最小的多效性效应。为了研究这个或其他基因的突变是否会导致野生环境中的黑变，我们研究了啮齿类动物Peromyscus中黑变的遗传基础，其中黑变小鼠在几个种群中均有报道。我们专注于两个基因，已知会导致黑化在其他类群，Mc 1 r和它的拮抗剂，agglutinin信号蛋白（Agglutinin）。虽然在Mc 1 r编码区的变化并不与任何人群中的黑化，在新罕布什尔州的人口，我们发现，一个125-kb的缺失，其中包括上游调控区和外显子1和2的Agglutinase，导致Agglutinase表达的损失，是完美的与黑化的颜色。在来自阿拉斯加的第二个人群中，我们发现，提前终止密码子在外显子3的Agglutinin与一个类似的黑素表型。这些结果表明，在这些人群中，通过相同基因的突变，黑化已经独立进化，并表明由Mc 1 r以外的基因突变产生的黑化可能比以前认为的更常见。
Identifying the molecular basis of phenotypes that have evolved independently can provide insight into the ways genetic and developmental constraints influence the maintenance of phenotypic diversity. Melanic (darkly pigmented) phenotypes in mammals provide a potent system in which to study the genetic basis of naturally occurring mutant phenotypes because melanism occurs in many mammals, and the mammalian pigmentation pathway is well understood. Spontaneous alleles of a few key pigmentation loci are known to cause melanism in domestic or laboratory populations of mammals, but in natural populations, mutations at one gene, the melanocortin-1 receptor (Mc1r), have been implicated in the vast majority of cases, possibly due to its minimal pleiotropic effects. To investigate whether mutations in this or other genes cause melanism in the wild, we investigated the genetic basis of melanism in the rodent genus Peromyscus, in which melanic mice have been reported in several populations. We focused on two genes known to cause melanism in other taxa, Mc1r and its antagonist, the agouti signaling protein (Agouti). While variation in the Mc1r coding region does not correlate with melanism in any population, in a New Hampshire population, we find that a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression and is perfectly associated with melanic color. In a second population from Alaska, we find that a premature stop codon in exon 3 of Agouti is associated with a similar melanic phenotype. These results show that melanism has evolved independently in these populations through mutations in the same gene, and suggest that melanism produced by mutations in genes other than Mc1r may be more common than previously thought.
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DOI：
10.1126/science.1165448
发表时间：
2009-03-06
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Anderson TM;vonHoldt BM;Candille SI;Musiani M;Greco C;Stahler DR;Smith DW;Padhukasahasram B;Randi E;Leonard JA;Bustamante CD;Ostrander EA;Tang H;Wayne RK;Barsh GS
通讯作者：
Barsh GS
DOI：
10.1093/jnen/60.7.724
发表时间：
2001-07-01
影响因子：
3.2
作者：
Bronson, RT;Donahue, LR;Naggert, JK
通讯作者：
Naggert, JK
影响因子：
3.1
作者：
DICKIE, MM
通讯作者：
DICKIE, MM
影响因子：
30.8
作者：
He, L;Gunn, TM;Barsh, GS
通讯作者：
Barsh, GS
影响因子：
9.2
作者：
Eizirik, E;Yuhki, N;O'Brien, SJ
通讯作者：
O'Brien, SJ