Adaptive evolution of pelvic reduction in sticklebacks by recurrent deletion of a Pitx1 enhancer.

Adaptive evolution of pelvic reduction in sticklebacks by recurrent deletion of a Pitx1 enhancer.
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DOI:
10.1126/science.1182213
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发表时间:
2010-01-15
期刊:
Science (New York, N.Y.)
影响因子:
--
通讯作者:
Kingsley DM
Kingsley DM
中科院分区:
其他
文献类型:
--
作者:
Chan YF;Marks ME;Jones FC;Villarreal G Jr;Shapiro MD;Brady SD;Southwick AM;Absher DM;Grimwood J;Schmutz J;Myers RM;Petrov D;Jónsson B;Schluter D;Bell MA;Kingsley DM

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自然界中反复进化的主要表型变化背后的分子机制通常是未知的。三刺鱼不同自然种群的骨盆丢失是由于调节突变导致了脑下垂体同源盒转录因子1(Pitx1)基因的组织特异性增强子缺失。Pitx1基因缺失突变的高发生率可能受该基因座固有结构特征的影响。虽然Pitx1零突变在实验动物中是致命的,但Pitx1调节突变在骨盆减少的种群中显示出正选择的分子特征。这些研究表明,自然种群中的单个突变飞跃如何产生主要的表达和形态变化,通过关键发育控制基因的反复调控改变产生新的适应等位基因。
The molecular mechanisms underlying major phenotypic changes that have evolved repeatedly in nature are generally unknown. Pelvic loss in different natural populations of threespine stickleback fish has occurred by regulatory mutations deleting a tissue-specific enhancer of the Pituitary homeobox transcription factor 1 (Pitx1) gene. The high prevalence of deletion mutations at Pitx1 may be influenced by inherent structural features of the locus. Although Pitx1 null mutations are lethal in laboratory animals, Pitx1 regulatory mutations show molecular signatures of positive selection in pelvic-reduced populations. These studies illustrate how major expression and morphological changes can arise by single mutational leaps in natural populations, producing new adaptive alleles via recurrent regulatory alterations in a key developmental control gene.
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