A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken.
A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken.
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DOI：
10.1371/journal.pgen.1002412
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发表时间：
2011-12
期刊：
影响因子：
4.5
通讯作者：
Andersson L
中科院分区：
文献类型：
--
作者：
Dorshorst B;Molin AM;Rubin CJ;Johansson AM;Strömstedt L;Pham MH;Chen CF;Hallböök F;Ashwell C;Andersson L
皮肤色素沉着或纤维黑素病（FM）是鸡皮肤色素沉着表型的少数例子之一，其中大多数其他色素沉着变异影响羽毛的颜色和图案。丝鸡是最普遍和研究最充分的品种，表现出这种表型。显性FM等位基因的存在导致皮肤真皮层和大部分内部结缔组织的广泛色素沉着。在这里，我们确定了FM的因果突变为两个基因组区域的反向复制和连接，在野生型个体中相隔超过400kb。其中一个重复区域包含内皮素3 (EDN3)，这是一种已知的促进黑色素细胞增殖的基因。我们发现EDN3的表达在发育中的Silkie胚胎中随着黑色素细胞的迁移而增加，并且在成年皮肤组织中保持较高的表达水平。我们研究了来自亚洲和欧洲的四种不同的鸡品种，它们表现出皮肤色素沉着，并得出结论，相同的结构变异是所有鸡品种这种表型的基础。这种复杂的基因组重排导致鸡的特定单基因性状，说明了具有主要表型效应的新突变如何在家畜品种形成过程中被重复使用。动物驯化的过程是人类长期持续的努力，目的是在农业生产或其他有益物种中培养有益的性状。利用快速发展的现代遗传和基因组技术，我们现在才刚刚开始了解这种选择压力对遗传变异和整体基因组结构的影响。在这里，我们展示了在动物驯化的过程中，鸡基因组中两个不同区域的重复和反转是如何发生的，可能会破坏内皮素3 （EDN3）的远程顺式调节元件，并导致非常极端的皮肤色素沉着表型。皮肤色素沉着，或称纤维黑素病（FM），是起源于中国的乌鸡品种的一个显著特征。中国古代传统医学文献中曾描述过与丝鸡非常相似的鸡，这说明了家养动物的独特表型是如何融入到人类文化和传统中，并持续到今天。在世界各地发现的其他FM鸡品种中也存在相同的重排，这既突出了这种突变的因果关系，也突出了人类如何传播与家畜新性状相关的遗传变异。
Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the dominant FM allele results in extensive pigmentation of the dermal layer of skin and the majority of internal connective tissue. Here we identify the causal mutation of FM as an inverted duplication and junction of two genomic regions separated by more than 400 kb in wild-type individuals. One of these duplicated regions contains endothelin 3 (EDN3), a gene with a known role in promoting melanoblast proliferation. We show that EDN3 expression is increased in the developing Silkie embryo during the time in which melanoblasts are migrating, and elevated levels of expression are maintained in the adult skin tissue. We have examined four different chicken breeds from both Asia and Europe displaying dermal hyperpigmentation and conclude that the same structural variant underlies this phenotype in all chicken breeds. This complex genomic rearrangement causing a specific monogenic trait in the chicken illustrates how novel mutations with major phenotypic effects have been reused during breed formation in domestic animals. The process of animal domestication has been a long and ongoing effort of the human race to cultivate beneficial traits in agriculturally productive or otherwise beneficial species. We are just now beginning to understand the effect this type of selection pressure has had on genetic variation and overall genome architecture using quickly advancing modern genetic and genomic technologies. Here we show how along the path of animal domestication a single large rearrangement involving a duplication and inversion of two distinct regions of the chicken genome occurred, likely disrupting long-range cis-regulatory elements of endothelin 3 (EDN3) and resulting in a very extreme skin pigmentation phenotype. Dermal hyperpigmentation, or Fibromelanosis (FM), is a defining characteristic of the Silkie chicken breed, which originates in China. Chickens very similar to the Silkie have been described in ancient Chinese texts on traditional medicine, illustrating how unique phenotypes in domesticated animals are incorporated into human culture and tradition that persists to this day. The presence of the same rearrangement in other FM chicken breeds found around the world highlights both the causality of this mutation as well as how humans serve to spread genetic variation linked to novel traits in domestic animals.
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影响因子：
4.4
作者：
Groenen MA;Megens HJ;Zare Y;Warren WC;Hillier LW;Crooijmans RP;Vereijken A;Okimoto R;Muir WM;Cheng HH
通讯作者：
Cheng HH
DOI：
10.1073/pnas.0831229100
发表时间：
2003-04-29
影响因子：
11.1
作者：
Dupin, E;Real, C;Le Douarin, NM
通讯作者：
Le Douarin, NM
影响因子：
64.5
作者：
Adameyko, Igor;Lallemend, Francois;Ernfors, Patrik
通讯作者：
Ernfors, Patrik
DOI：
10.1073/pnas.97.14.7882
发表时间：
2000-07-05
影响因子：
11.1
作者：
Dupin, E;Glavieux, C;Le Douarin, NM
通讯作者：
Le Douarin, NM
影响因子：
--
作者：
Kuklenski, J
通讯作者：
Kuklenski, J